LOCUS       NM_001008793            4053 bp    mRNA    linear   ROD 07-AUG-2024
DEFINITION  Mus musculus whirlin (Whrn), transcript variant 4, mRNA.
ACCESSION   NM_001008793
VERSION     NM_001008793.2
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4053)
  AUTHORS   Aguilar,C., Williams,D., Kurapati,R., Bains,R.S., Mburu,P.,
            Parker,A., Williams,J., Concas,D., Tateossian,H., Haynes,A.R.,
            Banks,G., Vikhe,P., Heise,I., Hutchison,M., Atkins,G., Gillard,S.,
            Starbuck,B., Oliveri,S., Blake,A., Sethi,S., Kumar,S., Bardhan,T.,
            Jeng,J.Y., Johnson,S.L., Corns,L.F., Marcotti,W., Simon,M.,
            Wells,S., Potter,P.K. and Lad,H.V.
  TITLE     Pleiotropic brain function of whirlin identified by a novel
            mutation
  JOURNAL   iScience 27 (7), 110170 (2024)
   PUBMED   38974964
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4053)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 4053)
  AUTHORS   Guan,Y., Du,H.B., Yang,Z., Wang,Y.Z., Ren,R., Liu,W.W., Zhang,C.,
            Zhang,J.H., An,W.T., Li,N.N., Zeng,X.X., Li,J., Sun,Y.X.,
            Wang,Y.F., Yang,F., Yang,J., Xiong,W., Yu,X., Chai,R.J., Tu,X.M.,
            Sun,J.P. and Xu,Z.G.
  TITLE     Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through
            Improper Phosphorylation of WHRN and WDSUB1 Recruitment
  JOURNAL   Adv Sci (Weinh) 10 (16), e2205993 (2023)
   PUBMED   37066759
  REMARK    GeneRIF: Deafness-Associated ADGRV1 Mutation Impairs USH2A
            Stability through Improper Phosphorylation of WHRN and WDSUB1
            Recruitment.
REFERENCE   4  (bases 1 to 4053)
  AUTHORS   Akturk,A., Day,M. and Tarchini,B.
  TITLE     RGS12 polarizes the GPSM2-GNAI complex to organize and elongate
            stereocilia in sensory hair cells
  JOURNAL   Sci Adv 8 (42), eabq2826 (2022)
   PUBMED   36260679
REFERENCE   5  (bases 1 to 4053)
  AUTHORS   Michel,V., Pepermans,E., Boutet de Monvel,J., England,P.,
            Nouaille,S., Aghaie,A., Delhommel,F., Wolff,N., Perfettini,I.,
            Hardelin,J.P., Petit,C. and Bahloul,A.
  TITLE     Interaction of protocadherin-15 with the scaffold protein whirlin
            supports its anchoring of hair-bundle lateral links in cochlear
            hair cells
  JOURNAL   Sci Rep 10 (1), 16430 (2020)
   PUBMED   33009420
  REMARK    GeneRIF: Interaction of protocadherin-15 with the scaffold protein
            whirlin supports its anchoring of hair-bundle lateral links in
            cochlear hair cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4053)
  AUTHORS   Rinchik,E.M.
  TITLE     Molecular genetics of the brown (b)-locus region of mouse
            chromosome 4. II. Complementation analyses of lethal brown
            deletions
  JOURNAL   Genetics 137 (3), 855-865 (1994)
   PUBMED   8088529
REFERENCE   7  (bases 1 to 4053)
  AUTHORS   Rinchik,E.M., Bell,J.A., Hunsicker,P.R., Friedman,J.M.,
            Jackson,I.J. and Russell,L.B.
  TITLE     Molecular genetics of the brown (b)-locus region of mouse
            chromosome 4. I. Origin and molecular mapping of radiation- and
            chemical-induced lethal brown deletions
  JOURNAL   Genetics 137 (3), 845-854 (1994)
   PUBMED   7916309
REFERENCE   8  (bases 1 to 4053)
  AUTHORS   Fleming,J., Rogers,M.J., Brown,S.D. and Steel,K.P.
  TITLE     Linkage analysis of the whirler deafness gene on mouse chromosome 4
  JOURNAL   Genomics 21 (1), 42-48 (1994)
   PUBMED   8088814
REFERENCE   9  (bases 1 to 4053)
  AUTHORS   Weltman,A.S., Sackler,A.M., Lewis,A.S. and Johnson,L.
  TITLE     Metabolism rate, biochemical and endocrine alterations in male
            whirler mice
  JOURNAL   Physiol Behav 5 (1), 17-22 (1970)
   PUBMED   5538400
REFERENCE   10 (bases 1 to 4053)
  AUTHORS   Sackler,A.M. and Weltman,A.S.
  TITLE     Metabolic and endocrine differences between the mutation whirler
            and normal female mice
  JOURNAL   J Exp Zool 164 (2), 133-140 (1967)
   PUBMED   6034501
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK157955.1 and AY739117.1.
            
            On Feb 9, 2013 this sequence version replaced NM_001008793.1.
            
            Summary: This gene encodes a protein required for elongation and
            actin polymerization in the hair cell stereocilia. The encoded
            protein is localized to the cytoplasm and co-localizes with the
            growing end of actin filaments. Mutations in this gene have been
            linked to deafness. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (4) lacks an in-frame exon and
            uses an alternate in-frame splice site in the coding region,
            compared to variant 2. The encoded isoform (4) is shorter than
            isoform 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY739117.1, AK122523.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AK157955.1         2-41
            41-4053             AY739117.1         1-4013
FEATURES             Location/Qualifiers
     source          1..4053
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 33.97 cM"
     gene            1..4053
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /note="whirlin"
                     /db_xref="GeneID:73750"
                     /db_xref="MGI:MGI:2682003"
     exon            1..1379
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     CDS             759..3479
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /note="isoform 4 is encoded by transcript variant 4;
                     whirler"
                     /codon_start=1
                     /product="whirlin isoform 4"
                     /protein_id="NP_001008793.1"
                     /db_xref="CCDS:CCDS18256.1"
                     /db_xref="GeneID:73750"
                     /db_xref="MGI:MGI:2682003"
                     /translation="MNAQLDGLSVSSSSTGSLGSAAAAAGGGGGAGLRLLSANVRQLH
                     QALTALLSEPEREQFTHCLNAYHARRNVFDLVRTLRVLLDSPVKRRLLPMLRLVIPRS
                     DQLLFDQYTAEGLYLPATTPYRQPAWAAPDGAGPGEVRLVSLRRAKAHEGLGFSIRGG
                     SEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKGSKKLVLS
                     VYSAGRIPGGYVTNHIYTWVDPQGRSTSPPSSLPQPHGSTLRQREDDRRSTLHLLQSG
                     DEKKVNLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAESSGLKVGDQILEVNGRS
                     FLNILHDEAVKLLKSSRHLILTVKDVGRLPHARTTVDQTKWIASSRIGESVANSAGFP
                     GDHTEEGTSKPGFYKGPAGSQVTLSSLGNQTRALLDDQARHLLTEQERATMMYYLAQY
                     RGGTISVEAMVMALFELLNTHAKFSLLSEVRSIISPQDLDRFDHLVLRREIESMKARQ
                     PPGPGVGDTYSMVSYSDTGSSTGSHGTSTTVSSARNTLDLEGTGETTQGSTNALPDVS
                     VDDVKSPSEDLPGIKPPPPPPPLAQGHDRLLGQPRKPGREDPAPLSSAAHSGIVFSAP
                     RNRSPPPGTAPTPGPSSAQDSPSSPIYASISHANPSSRKPLDTHLALVNQHPIGPFPR
                     VQSPPHLKSPPAETPGAGACLPPPSPSEHPDAVGANQHFVLVEVHRPDSEPDVNEVRA
                     LPQTRTSTLSQLSDSGQTLSEDSGVDAGETEASTSGRGRQTASAKNKNGKEQPRTERT
                     AEGANKPPGLLEPTSTLVRVRKSAATLGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQ
                     LKVGHVILEVNGQTLRGKEHKEAARIIAEAFKTKERDYIDFLVTEFNVML"
     exon            1380..1598
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1724
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1725..1927
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1928..1964
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            1965..2177
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2178..2387
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2388..2459
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2460..2994
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            2995..3173
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            3174..3296
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     exon            3297..4053
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4035..4040
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /note="hexamer: AATAAA"
     polyA_site      4051
                     /gene="Whrn"
                     /gene_synonym="1110035G07Rik; C430046P22Rik; Dfnb31;
                     Ush2d; wi"
                     /note="major polyA site"
ORIGIN      
        1 aacagttcgc aaagtccggg ctcccggccg cgtggctccg tgtgcgcccg ggcggcgttg
       61 gggcgcgggg gcccgggctg ctgcatggtg ggcggcccgg gacatgcccc gcaccccccg
      121 ccggacgccc gcgtggctcc tctggctgcg actgctccgg actctgagcc tagattgacc
      181 ggcgccctaa cttctttctg actttggggt cccccagccc tagaggaacg ggcatctcgg
      241 ctgggggagc cccggacatg gtgtgacggg gcgggcggcg tggctgcgcc ccccactgcg
      301 gccacgcacg gtccccgcgc cttccggcat gtagctgctg ttctcgctcc ccccggcctc
      361 cagccgcagt ctccacgacc tccggcctcc aggcgccaac tctttgtccc cccaggatcc
      421 cgccgcggtc ctcaggattg cagccgccgt ctcttcgtcc tccgaattcc agtttcacct
      481 gccttcgcgc ccctgggaca ccagccgctg tccctgccac ctccccagga tccagccagc
      541 gctctagctc acctgcacct ccccaaccca ccctgcagcc gtcgtctccg ctctccgggc
      601 cagtctagac tgcagccggt gactccgcgt ctaccccaaa cccagactcc agccgtgacc
      661 tccgcgcccc ggggaatcca gctgtcgcgc ctctggccgc aggtgcagct gccgccccgc
      721 gccgcgcgcc ccgagtgcgg ccgggcctcg gcggggagat gaacgcacag ctggacggcc
      781 tgtcggtgag ctcgtcctcc accggctcgc tgggctcggc ggcggcggcg gcgggcggcg
      841 gcgggggcgc ggggttgcgg ctgctgtctg ccaacgtgcg ccagctgcac caagcgctca
      901 cggcgctgct gagcgagccc gagcgggagc agttcactca ctgcctcaac gcgtaccacg
      961 cgcgccgcaa cgtcttcgac ctggtgcgca ccctgcgcgt cctgctggac agcccggtca
     1021 agcggcgtct gctgcccatg ctgcgtctgg tcatcccgcg ctccgaccag ctgctcttcg
     1081 accagtacac ggccgagggc ctctacctgc cagccaccac cccctacagg cagcccgcct
     1141 gggccgctcc cgacggcgcg gggcccgggg aggtgcgact cgtgagcctg cggcgcgcca
     1201 aggcccacga gggcttgggc ttcagcatcc gcgggggctc ggaacacggc gtgggcatct
     1261 acgtgtctct agtggagccg ggctccctgg cagagaagga agggttgcgg gtcggggacc
     1321 agattctgcg cgtcaacgat aaatctctag cccgggtgac ccacgcggag gctgtcaagg
     1381 ctctcaaagg ctccaagaag ctggtgctgt ctgtatactc agctgggcgt atcccagggg
     1441 gctatgtgac caaccacatc tacacctggg tggacccaca gggtcgaagc acatcccctc
     1501 cctccagcct gccccagccc catggcagca ccctgagaca gcgtgaagat gaccgaagga
     1561 gtaccctcca cctcctgcag agtggagatg agaaaaaggt gaacctggtg ttgggggacg
     1621 gccggtcctt gggcctcacg atccgaggtg gagcagagta cggccttggc atttacatca
     1681 ctggtgtgga cccaggctct gaagcagaga gcagcggcct caaggttgga gaccagattc
     1741 tggaggtgaa tgggcggagc tttctcaaca tcctgcatga tgaggcagtg aagctgctca
     1801 agtcatcccg gcacctcatc ctgacggtga aggacgtcgg aaggctgccc cacgcacgta
     1861 ccaccgtgga ccagaccaag tggatcgcca gttcccggat cggggaaagc gtcgccaact
     1921 cagcagggtt tccaggggac cacacagaag aagggacaag caagccagga ttttacaagg
     1981 gcccagccgg ctcccaggtg accctgagca gcctggggaa tcagactcgt gcactgctgg
     2041 acgaccaagc caggcacctg ctgacagagc aggagcgcgc caccatgatg tactacctgg
     2101 cccagtaccg tggtggcacc atctctgtgg aggccatggt catggcactg tttgagttgc
     2161 tcaacacaca cgccaagttc tcactcctgt ctgaggtgag aagcatcatc tcaccccaag
     2221 acctggaccg ctttgaccac ctggtgctga ggcgcgagat cgagtctatg aaggcgaggc
     2281 agccccccgg ccccggggtt ggagacacgt attccatggt ttcctacagc gacacaggct
     2341 catccacagg cagccacggc acctctacaa ccgtcagctc ggccaggaat acattagacc
     2401 tggaaggaac cggtgagacc acccagggca gcaccaacgc tctcccggat gtgtctgtgg
     2461 atgatgtcaa atccccctca gaagatctgc ctggtatcaa gccacctcct cccccaccac
     2521 ccctggctca aggtcatgac cgcttgcttg gccagccacg gaagccaggg agggaggacc
     2581 ccgcacctct gtcttctgct gcccactcag gcattgtctt ctcagcacca cggaaccgca
     2641 gcccgccgcc agggactgct cccactccgg gaccttcctc agcacaggac tctccctcct
     2701 cccccattta tgcctccatc tcccatgcca accccagttc cagaaagccg ctggacaccc
     2761 acctggccct ggttaaccag caccccatcg gccccttccc tcgagtccag tccccacctc
     2821 acctgaagag ccctcctgca gagaccccag gagctggggc ctgccttcca ccaccatcac
     2881 cctctgaaca ccctgacgcc gtgggtgcaa accagcactt tgttctggtg gaggtgcacc
     2941 gtccggacag tgagcctgat gtgaatgaag tgcgggctct gccccagact cgcacctcca
     3001 cactctctca gctctcagac agtgggcaga ccctgagcga ggacagtggc gtggatgccg
     3061 gggagacgga ggccagcacc tcaggccgag gcagacagac agcatccgct aagaacaaga
     3121 atggcaagga gcagccccgg acggagagga ccgcggaggg tgccaacaaa cctcccggcc
     3181 tgctggagcc aacgtccacc ctggtccgtg tgaggaaaag tgcagccaca ctgggcatcg
     3241 ccattgaggg cggtgccaac acacgccagc ctctgcccag gatcgtcaca attcagcgag
     3301 gaggttctgc ccataactgt ggacagctca aggtgggcca cgtaattctg gaagtgaatg
     3361 ggcagacact tcggggtaag gagcacaagg aggccgcccg aatcatcgct gaggccttca
     3421 agaccaagga gagagactac atcgactttc tggtcactga gttcaacgtg atgctctagg
     3481 ggtggggcca agttcagggc tatcagccgg ggtcacaggc agagtctccc accccaccct
     3541 gacacataca ccctgcctgg gcccttggcc cagactagga gaagaagagg gccagacaag
     3601 gcaagcagaa agtcaggtta aaacctgtgt gccagaaaca cagtaggggc tcaataaaac
     3661 tatgttaggt gaagggaagg aaggcagagt acatttctct aggctggaga ggggtactgc
     3721 caccccagat gcctaggcct ttggctgtga ggacacagga gagttcacac agactgcttc
     3781 ctgccaggag gaccttcagt gccacaaatg agccgccagc acgcttgttc acaccagtcg
     3841 cacccccttc ctcctggctc cgtgccccta tggtatttat ttatttattt atttcccttc
     3901 ctgtgcttca ggggagcccc ccccccaaag gccccagctt ccctttgcac tcccagccta
     3961 tcccagaggc cttgcaggcg accagcaatg tcagtgtatt tatatacaga gcttatgact
     4021 ttaatttttc aataaataaa tctgaacaag gtt
//
