Incidental Mutation 'IGL01693:Sox10'
ID104175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox10
Ensembl Gene ENSMUSG00000033006
Gene NameSRY (sex determining region Y)-box 10
SynonymsSox21
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01693
Quality Score
Status
Chromosome15
Chromosomal Location79154908-79165240 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79156273 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 195 (V195M)
Ref Sequence ENSEMBL: ENSMUSP00000155639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040019] [ENSMUST00000040077] [ENSMUST00000229973] [ENSMUST00000230261] [ENSMUST00000230271] [ENSMUST00000230532]
Predicted Effect probably benign
Transcript: ENSMUST00000040019
AA Change: V356M

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006
AA Change: V356M

DomainStartEndE-ValueType
Pfam:Sox_N 12 93 1.8e-31 PFAM
HMG 103 173 8.16e-27 SMART
low complexity region 183 205 N/A INTRINSIC
low complexity region 238 245 N/A INTRINSIC
low complexity region 310 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040077
SMART Domains Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020

DomainStartEndE-ValueType
low complexity region 3 37 N/A INTRINSIC
Pfam:RNA_pol_Rpb6 51 104 2.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229762
Predicted Effect probably benign
Transcript: ENSMUST00000229973
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229978
Predicted Effect possibly damaging
Transcript: ENSMUST00000230261
AA Change: V195M

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000230271
Predicted Effect probably benign
Transcript: ENSMUST00000230532
AA Change: V356M

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for null mutations lack peripheral glial cells, melanocytes, and autonomic and enteric neurons, and die neonatally or sooner. Heterozygotes exhibit white spotting and megacolon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Slco1a6 G T 6: 142,133,209 S120* probably null Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Sox10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01645:Sox10 APN 15 79156339 missense probably benign 0.24
IGL02137:Sox10 APN 15 79159193 missense probably benign 0.01
Dalmatian UTSW 15 79163324 missense probably damaging 1.00
Kat UTSW 15 79163319 missense probably damaging 1.00
R0479:Sox10 UTSW 15 79163319 missense probably damaging 1.00
R0589:Sox10 UTSW 15 79163285 splice site probably benign
R0624:Sox10 UTSW 15 79159386 missense possibly damaging 0.90
R0679:Sox10 UTSW 15 79156588 missense probably benign 0.00
R0835:Sox10 UTSW 15 79156441 missense probably damaging 1.00
R1517:Sox10 UTSW 15 79159178 missense probably benign 0.00
R1635:Sox10 UTSW 15 79156460 missense probably damaging 1.00
R4089:Sox10 UTSW 15 79156363 missense possibly damaging 0.90
R5533:Sox10 UTSW 15 79156302 missense probably benign 0.08
R5883:Sox10 UTSW 15 79156263 missense probably damaging 1.00
R6742:Sox10 UTSW 15 79156476 missense probably damaging 1.00
R7457:Sox10 UTSW 15 79156139 missense probably benign 0.06
R7514:Sox10 UTSW 15 79156221 missense probably benign 0.01
X0062:Sox10 UTSW 15 79156030 missense probably damaging 0.96
Posted On2014-01-21