Incidental Mutation 'R5883:Sox10'
ID 454534
Institutional Source Beutler Lab
Gene Symbol Sox10
Ensembl Gene ENSMUSG00000033006
Gene Name SRY (sex determining region Y)-box 10
Synonyms Sox21, gt
MMRRC Submission 044086-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5883 (G1)
Quality Score 215
Status Validated
Chromosome 15
Chromosomal Location 79039113-79048690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79040463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 359 (E359G)
Ref Sequence ENSEMBL: ENSMUSP00000155574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040019] [ENSMUST00000040077] [ENSMUST00000229973] [ENSMUST00000230261] [ENSMUST00000230271] [ENSMUST00000230532]
AlphaFold Q04888
Predicted Effect probably damaging
Transcript: ENSMUST00000040019
AA Change: E359G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006
AA Change: E359G

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 probably damaging
Transcript: ENSMUST00000230261
AA Change: E198G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000230271
Predicted Effect probably damaging
Transcript: ENSMUST00000230532
AA Change: E359G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.2132 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.9%
  • 20x: 83.7%
Validation Efficiency 100% (70/70)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,872,380 (GRCm39) V103I possibly damaging Het
Aass G A 6: 23,072,993 (GRCm39) T920I probably benign Het
Akirin2 A G 4: 34,565,256 (GRCm39) I168V possibly damaging Het
Ambn T A 5: 88,615,688 (GRCm39) Y372* probably null Het
Ano3 T A 2: 110,711,209 (GRCm39) E85V probably null Het
Bmf C T 2: 118,377,447 (GRCm39) silent Het
Bmper T A 9: 23,317,970 (GRCm39) S530T probably benign Het
Bop1 T C 15: 76,339,049 (GRCm39) D383G probably damaging Het
Bub1b T A 2: 118,440,363 (GRCm39) Y156N probably damaging Het
Cacna1h A G 17: 25,595,896 (GRCm39) V1987A probably benign Het
Cd84 T C 1: 171,700,405 (GRCm39) V174A possibly damaging Het
Cep290 T A 10: 100,359,261 (GRCm39) L997Q probably benign Het
Chil4 C T 3: 106,117,886 (GRCm39) R128H possibly damaging Het
Cpne3 A T 4: 19,552,314 (GRCm39) V106D possibly damaging Het
D6Wsu163e A G 6: 126,943,879 (GRCm39) E425G probably damaging Het
Dlgap1 A T 17: 70,824,008 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,369,711 (GRCm39) H4379N probably damaging Het
Gm10309 A G 17: 86,806,185 (GRCm39) probably benign Het
Gm6264 G A 1: 85,148,903 (GRCm39) probably benign Het
Has2 T A 15: 56,531,459 (GRCm39) I419F possibly damaging Het
Hscb A G 5: 110,987,444 (GRCm39) C51R probably benign Het
Ighv1-61 T C 12: 115,323,183 (GRCm39) S4G probably benign Het
Islr2 G T 9: 58,105,998 (GRCm39) Q465K probably benign Het
Jakmip2 T C 18: 43,715,059 (GRCm39) I156V possibly damaging Het
Klk1b24 A G 7: 43,839,787 (GRCm39) I49V probably benign Het
Krt90 C T 15: 101,461,654 (GRCm39) probably benign Het
Larp1 C T 11: 57,933,125 (GRCm39) S243F probably damaging Het
Lrp4 T C 2: 91,318,778 (GRCm39) Y872H probably benign Het
Maip1 T C 1: 57,446,260 (GRCm39) M110T probably damaging Het
Marchf7 G A 2: 60,064,786 (GRCm39) R354Q probably damaging Het
Med12l G T 3: 58,998,889 (GRCm39) E605D probably damaging Het
Nt5c1a T A 4: 123,110,049 (GRCm39) probably null Het
Or2j6 T A 7: 139,980,101 (GRCm39) Y286F probably damaging Het
Or5ac25 A T 16: 59,182,078 (GRCm39) C168S probably damaging Het
Or5p66 C T 7: 107,885,451 (GRCm39) S294N probably damaging Het
Pdzd9 T A 7: 120,267,776 (GRCm39) E13V possibly damaging Het
Ppip5k2 C T 1: 97,635,535 (GRCm39) A1100T possibly damaging Het
Prkdc C A 16: 15,533,778 (GRCm39) Q1539K probably benign Het
Rad54l C G 4: 115,956,243 (GRCm39) probably benign Het
Ric1 T A 19: 29,573,389 (GRCm39) I943N probably damaging Het
Rif1 T A 2: 51,995,651 (GRCm39) probably null Het
Rpl12 T C 2: 32,852,536 (GRCm39) probably benign Het
Ryr3 T C 2: 112,860,637 (GRCm39) probably benign Het
Scarb1 C A 5: 125,417,971 (GRCm39) probably benign Het
Taf5 A G 19: 47,056,228 (GRCm39) T9A unknown Het
Tmem128 C T 5: 38,423,885 (GRCm39) A33V possibly damaging Het
Tox A C 4: 6,697,444 (GRCm39) V453G probably benign Het
Ubxn4 T A 1: 128,183,867 (GRCm39) C76S probably damaging Het
Vmn2r100 A T 17: 19,743,786 (GRCm39) Y483F probably benign Het
Xkr5 A G 8: 18,990,806 (GRCm39) S154P probably damaging Het
Zfp687 T C 3: 94,919,355 (GRCm39) N139S probably benign Het
Other mutations in Sox10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01645:Sox10 APN 15 79,040,539 (GRCm39) missense probably benign 0.24
IGL01693:Sox10 APN 15 79,040,473 (GRCm39) missense possibly damaging 0.85
IGL02137:Sox10 APN 15 79,043,393 (GRCm39) missense probably benign 0.01
Dalmatian UTSW 15 79,047,524 (GRCm39) missense probably damaging 1.00
Kat UTSW 15 79,047,519 (GRCm39) missense probably damaging 1.00
R0479:Sox10 UTSW 15 79,047,519 (GRCm39) missense probably damaging 1.00
R0589:Sox10 UTSW 15 79,047,485 (GRCm39) splice site probably benign
R0624:Sox10 UTSW 15 79,043,586 (GRCm39) missense possibly damaging 0.90
R0679:Sox10 UTSW 15 79,040,788 (GRCm39) missense probably benign 0.00
R0835:Sox10 UTSW 15 79,040,641 (GRCm39) missense probably damaging 1.00
R1517:Sox10 UTSW 15 79,043,378 (GRCm39) missense probably benign 0.00
R1635:Sox10 UTSW 15 79,040,660 (GRCm39) missense probably damaging 1.00
R4089:Sox10 UTSW 15 79,040,563 (GRCm39) missense possibly damaging 0.90
R5533:Sox10 UTSW 15 79,040,502 (GRCm39) missense probably benign 0.08
R6742:Sox10 UTSW 15 79,040,676 (GRCm39) missense probably damaging 1.00
R7457:Sox10 UTSW 15 79,040,339 (GRCm39) missense probably benign 0.06
R7514:Sox10 UTSW 15 79,040,421 (GRCm39) missense probably benign 0.01
R8356:Sox10 UTSW 15 79,040,652 (GRCm39) missense probably damaging 1.00
R9242:Sox10 UTSW 15 79,040,640 (GRCm39) missense probably damaging 1.00
X0062:Sox10 UTSW 15 79,040,230 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGCATGGCCATAATAGGGTCC -3'
(R):5'- CCACGAGGTAATGTCCAACATGG -3'

Sequencing Primer
(F):5'- CCATAATAGGGTCCTGAGGGCTG -3'
(R):5'- TGACTGAGCTGGACCAATACCTG -3'
Posted On 2017-02-10