This spontaneous C-to-A transversion on chromosome 11 position 6,3151,168 (GRCm38) changes a codon in exon 4 and causes a serine to arginine substitution at amino acid 76 (p.S76R), which is in the second transmembrane domain. (J:201866)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count