LOCUS       NM_001416775            1362 bp    mRNA    linear   ROD 07-AUG-2024
DEFINITION  Mus musculus DiGeorge syndrome critical region gene 6 (Dgcr6),
            transcript variant 5, mRNA.
ACCESSION   NM_001416775
VERSION     NM_001416775.1
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 1362)
  AUTHORS   Paronett,E.M., Meechan,D.W., Karpinski,B.A., LaMantia,A.S. and
            Maynard,T.M.
  TITLE     Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a
            Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical
            Projection Neuron Generation
  JOURNAL   Cereb Cortex 25 (10), 3977-3993 (2015)
   PUBMED   25452572
REFERENCE   2  (bases 1 to 1362)
  AUTHORS   Karpinski,B.A., Maynard,T.M., Fralish,M.S., Nuwayhid,S., Zohn,I.E.,
            Moody,S.A. and LaMantia,A.S.
  TITLE     Dysphagia and disrupted cranial nerve development in a mouse model
            of DiGeorge (22q11) deletion syndrome
  JOURNAL   Dis Model Mech 7 (2), 245-257 (2014)
   PUBMED   24357327
REFERENCE   3  (bases 1 to 1362)
  AUTHORS   Maynard,T.M., Haskell,G.T., Peters,A.Z., Sikich,L., Lieberman,J.A.
            and LaMantia,A.S.
  TITLE     A comprehensive analysis of 22q11 gene expression in the developing
            and adult brain
  JOURNAL   Proc Natl Acad Sci U S A 100 (24), 14433-14438 (2003)
   PUBMED   14614146
REFERENCE   4  (bases 1 to 1362)
  AUTHORS   Edelmann,L., Stankiewicz,P., Spiteri,E., Pandita,R.K., Shaffer,L.,
            Lupski,J.R. and Morrow,B.E.
  TITLE     Two functional copies of the DGCR6 gene are present on human
            chromosome 22q11 due to a duplication of an ancestral locus
  JOURNAL   Genome Res 11 (2), 208-217 (2001)
   PUBMED   11157784
  REMARK    Erratum:[Genome Res 2001 Mar;11(3):503. Lupski, J [corrected to
            Lupski, JR]]
REFERENCE   5  (bases 1 to 1362)
  AUTHORS   Puech,A., Saint-Jore,B., Merscher,S., Russell,R.G., Cherif,D.,
            Sirotkin,H., Xu,H., Factor,S., Kucherlapati,R. and Skoultchi,A.I.
  TITLE     Normal cardiovascular development in mice deficient for 16 genes in
            550 kb of the velocardiofacial/DiGeorge syndrome region
  JOURNAL   Proc Natl Acad Sci U S A 97 (18), 10090-10095 (2000)
   PUBMED   10963672
REFERENCE   6  (bases 1 to 1362)
  AUTHORS   Lund,J., Roe,B., Chen,F., Budarf,M., Galili,N., Riblet,R.,
            Miller,R.D., Emanuel,B.S. and Reeves,R.H.
  TITLE     Sequence-ready physical map of the mouse chromosome 16 region with
            conserved synteny to the human velocardiofacial syndrome region on
            22q11.2
  JOURNAL   Mamm Genome 10 (5), 438-443 (1999)
   PUBMED   10337614
REFERENCE   7  (bases 1 to 1362)
  AUTHORS   Sutherland,H.F., Kim,U.J. and Scambler,P.J.
  TITLE     Cloning and comparative mapping of the DiGeorge syndrome critical
            region in the mouse
  JOURNAL   Genomics 52 (1), 37-43 (1998)
   PUBMED   9740669
REFERENCE   8  (bases 1 to 1362)
  AUTHORS   Puech,A., Saint-Jore,B., Funke,B., Gilbert,D.J., Sirotkin,H.,
            Copeland,N.G., Jenkins,N.A., Kucherlapati,R., Morrow,B. and
            Skoultchi,A.I.
  TITLE     Comparative mapping of the human 22q11 chromosomal region and the
            orthologous region in mice reveals complex changes in gene
            organization
  JOURNAL   Proc Natl Acad Sci U S A 94 (26), 14608-14613 (1997)
   PUBMED   9405660
REFERENCE   9  (bases 1 to 1362)
  AUTHORS   Botta,A., Lindsay,E.A., Jurecic,V. and Baldini,A.
  TITLE     Comparative mapping of the DiGeorge syndrome region in mouse shows
            inconsistent gene order and differential degree of gene
            conservation
  JOURNAL   Mamm Genome 8 (12), 890-895 (1997)
   PUBMED   9383280
  REMARK    Erratum:[Mamm Genome 1998 Apr;9(4):344]
REFERENCE   10 (bases 1 to 1362)
  AUTHORS   Lindsay,E.A. and Baldini,A.
  TITLE     A mouse gene (Dgcr6) related to the Drosophila gonadal gene is
            expressed in early embryogenesis and is the homolog of a human gene
            deleted in DiGeorge syndrome
  JOURNAL   Cytogenet Cell Genet 79 (3-4), 243-247 (1997)
   PUBMED   9605865
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087064.27.
            
            Summary: This gene encodes a protein that is similar to the gonadal
            protein in Drosophila (fruit fly). The encoded protein is thought
            to play a role in migration of neural crest cells during
            development. Deletions in the human gene are associated with
            DiGeorge syndrome (or velocardiofacial syndrome) which has many
            clinical features including cardiac abnormalities, cleft palate,
            atypical facial features, hypocalcemia, hypoparathyroidism and
            defective development or congenital absence of the thymus.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Jan 2014].
            
            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 :: SRR7345562.4764529.1,
                                           SRR17253012.8973831.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849376, SAMN00849379
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-173               AC087064.27        68720-68892         c
            174-334             AC087064.27        68463-68623         c
            335-435             AC087064.27        65795-65895         c
            436-606             AC087064.27        65088-65258         c
            607-1362            AC087064.27        63686-64441         c
FEATURES             Location/Qualifiers
     source          1..1362
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 11.19 cM"
     gene            1..1362
                     /gene="Dgcr6"
                     /note="DiGeorge syndrome critical region gene 6"
                     /db_xref="GeneID:13353"
                     /db_xref="MGI:MGI:1202877"
     exon            1..173
                     /gene="Dgcr6"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..690
                     /gene="Dgcr6"
                     /note="isoform 4 is encoded by transcript variant 5;
                     protein DGCR6; diGeorge syndrome critical region 6
                     homolog; DiGeorge syndrome chromosome region 6"
                     /codon_start=1
                     /product="protein DGCR6 isoform 4"
                     /protein_id="NP_001403704.1"
                     /db_xref="GeneID:13353"
                     /db_xref="MGI:MGI:1202877"
                     /translation="MDRYAAAGDEAADRARQQERHYQLLSALQSLVKELPSSFQQRLS
                     YTTLSDLALALLDGTVFEIVQGLLEIQHLTEKSLYNQRLRLQNEHRVLRQTLRQKHLE
                     AQQSCRPHNLPVLQAAQQRELEQEPPLLKSWQAMEHRIREEQQAMDRKIVLELDRKVA
                     DQQSTLEKAGVAGFYVTTNPQELTLQMNLLELIRKLQQRGCQVGKAAL"
     exon            174..334
                     /gene="Dgcr6"
                     /inference="alignment:Splign:2.1.0"
     exon            335..435
                     /gene="Dgcr6"
                     /inference="alignment:Splign:2.1.0"
     exon            436..606
                     /gene="Dgcr6"
                     /inference="alignment:Splign:2.1.0"
     exon            607..1362
                     /gene="Dgcr6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1052..1057
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dgcr6"
                     /note="hexamer: AATAAA"
     polyA_site      1072
                     /gene="Dgcr6"
                     /note="major polyA site"
     regulatory      1339..1344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Dgcr6"
                     /note="hexamer: AATAAA"
     polyA_site      1362
                     /gene="Dgcr6"
ORIGIN      
        1 gcgccggggc accctaggag accgagtaga ggggcggcgg gggaccgcgc ggtaaaccgc
       61 gcgatggacc gctatgcggc cgccggggat gaggcggcgg atcgggcccg gcagcaggag
      121 cggcactacc agctgctgtc agcactacag agcctggtca aggagctgcc cagctccttt
      181 cagcagcgcc tgtcctacac cacgctcagc gacttggccc tggcgctgct cgacggaacg
      241 gtgtttgaaa tcgtgcaggg tcttctggag attcagcacc tcactgagaa gagcctctac
      301 aaccagagac tgcggctgca gaacgaacac cgagtgctca gacagactct aaggcagaag
      361 cacctggaag cccagcagtc ctgccggccc cacaacttgc cagtgctcca ggcagctcag
      421 cagcgtgagc tggagcagga accaccctta ctcaagtcat ggcaggccat ggaacatcgg
      481 atccgggagg agcagcaggc tatggaccga aagattgtcc tggagctgga ccggaaggtt
      541 gccgaccagc agagcacact ggagaaggca ggggtagctg gtttctacgt gaccaccaat
      601 cctcaggagc tgacgctgca gatgaaccta ttggaactca tcaggaagct gcagcagagg
      661 ggctgccaag tgggaaaggc agctctgtga ccaagcaggg ggtccttgct gtcctccgtt
      721 gcctaggatg gctggcgggt gccacagcct tgactgtgtg ggggctactg tccagctgcc
      781 aacaggtctg atctctctga ggggctgatt agatcctggc tatgcctgct gccatccact
      841 gttcagattt ggaggggaag ggcccaagca ataggaatga tgtcatgaga aggccccttg
      901 actggatgct gagtgggaat attggttcta gcaccttctc ctctgggcat atcccacatt
      961 ccttccaggc ttgggtgttg ccttattcct gtgtagcccc tcccttgaca gtcccagccc
     1021 tggatggaag aagccagagg atggcctaga aaataaagaa cccaggacat ggtttgtgtc
     1081 tgtgctacct aggatccttt cctagtgact ctggtcatgt tggcgccaac agagtgacag
     1141 acaagccctg aggccttgca ttgtcaggtc cctaattaat acagcctcca aaccgctgta
     1201 tgaaactgaa gagcttagca ggaggcaagc cacacgccca gctaggactt tagctactgg
     1261 agtgaaggac agagaggggc tggagggggg ctggaggggg gctgggtccc agggaccatg
     1321 catgcatctg gaatgtagaa taaaagtatg gatgtcgctg ca
//
