Incidental Mutation 'R4089:Sox10'
ID 317531
Institutional Source Beutler Lab
Gene Symbol Sox10
Ensembl Gene ENSMUSG00000033006
Gene Name SRY (sex determining region Y)-box 10
Synonyms Sox21, gt
MMRRC Submission 040982-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4089 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79039113-79048690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79040563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 165 (V165M)
Ref Sequence ENSEMBL: ENSMUSP00000155639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040019] [ENSMUST00000040077] [ENSMUST00000229973] [ENSMUST00000230261] [ENSMUST00000230271] [ENSMUST00000230532]
AlphaFold Q04888
Predicted Effect probably benign
Transcript: ENSMUST00000040019
AA Change: V326M

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006
AA Change: V326M

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: V165M

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000230271
Predicted Effect probably benign
Transcript: ENSMUST00000230532
AA Change: V326M

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.1080 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (51/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
A530064D06Rik A G 17: 48,473,678 (GRCm39) S80P probably damaging Het
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Actr5 T C 2: 158,467,022 (GRCm39) probably benign Het
Arhgef17 T A 7: 100,533,006 (GRCm39) E1173V probably damaging Het
Brca1 T C 11: 101,415,002 (GRCm39) N1044S possibly damaging Het
Cap1 A G 4: 122,756,202 (GRCm39) V398A probably benign Het
Cbs A C 17: 31,851,980 (GRCm39) C8G probably benign Het
Csmd1 T A 8: 16,042,738 (GRCm39) I2332F probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dip2a T C 10: 76,114,323 (GRCm39) probably null Het
Dock9 A T 14: 121,820,883 (GRCm39) C1494S probably damaging Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fbn2 C T 18: 58,186,841 (GRCm39) D1687N probably benign Het
Flt1 C A 5: 147,501,051 (GRCm39) L1327F probably benign Het
Frem3 T C 8: 81,341,802 (GRCm39) F1365S probably damaging Het
Gigyf2 A G 1: 87,371,394 (GRCm39) E1169G probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm14443 T C 2: 175,013,685 (GRCm39) Y29C probably damaging Het
Gpr108 A G 17: 57,544,925 (GRCm39) Y313H probably damaging Het
Ifngr1 T C 10: 19,477,233 (GRCm39) probably null Het
Il31ra C T 13: 112,688,453 (GRCm39) W41* probably null Het
Ints4 T A 7: 97,178,462 (GRCm39) Y687* probably null Het
Jpt2 A G 17: 25,175,076 (GRCm39) S37P probably benign Het
Kcnk9 A G 15: 72,418,112 (GRCm39) V6A probably benign Het
Lamc3 C T 2: 31,810,520 (GRCm39) R797* probably null Het
Lrig1 A G 6: 94,586,840 (GRCm39) I612T possibly damaging Het
Mapk4 C A 18: 74,063,530 (GRCm39) C564F probably damaging Het
Marveld2 T A 13: 100,736,988 (GRCm39) H215L probably benign Het
Mindy3 T C 2: 12,369,327 (GRCm39) M84V probably benign Het
Nek3 T C 8: 22,639,929 (GRCm39) D182G probably damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Pkp3 G A 7: 140,664,056 (GRCm39) R411H probably damaging Het
Plau A G 14: 20,891,134 (GRCm39) D366G probably damaging Het
Prkd3 A G 17: 79,278,817 (GRCm39) M423T possibly damaging Het
Prmt9 A T 8: 78,299,174 (GRCm39) I623L probably benign Het
Rgs6 A T 12: 83,110,261 (GRCm39) E175D probably damaging Het
Rnf135 G A 11: 80,089,872 (GRCm39) G403S probably damaging Het
Scn11a C T 9: 119,624,719 (GRCm39) probably null Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sos1 A G 17: 80,756,781 (GRCm39) V257A probably benign Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Tex14 A G 11: 87,403,029 (GRCm39) D533G probably damaging Het
Topbp1 T C 9: 103,201,700 (GRCm39) probably null Het
Trim30d T C 7: 104,137,007 (GRCm39) N66D probably damaging Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Trip4 A G 9: 65,765,565 (GRCm39) V378A probably benign Het
Vmn2r115 A C 17: 23,565,358 (GRCm39) Q415P probably benign Het
Washc2 A T 6: 116,233,253 (GRCm39) probably null 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
R5533:Sox10 UTSW 15 79,040,502 (GRCm39) missense probably benign 0.08
R5883:Sox10 UTSW 15 79,040,463 (GRCm39) missense probably damaging 1.00
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'- TCAAACTGGGGTCGTGAGATG -3'
(R):5'- AAAGACAGAGCTGCAGTCCG -3'

Sequencing Primer
(F):5'- CCGTAGTGGGGCAGACTGAG -3'
(R):5'- AAAGGGATGGGCGCTCCTTG -3'
Posted On 2015-05-15