Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Sox10'

167130

Institutional Source

Beutler Lab

Gene Symbol

Sox10

Ensembl Gene

ENSMUSG00000033006

Gene Name

SRY (sex determining region Y)-box 10

Synonyms

Sox21, gt

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1517 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

79039113-79048690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79043378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 218 (E218D)

Ref Sequence

ENSEMBL: ENSMUSP00000155574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040019] [ENSMUST00000230261] [ENSMUST00000230532]

AlphaFold

Q04888

Predicted Effect

probably benign
Transcript: ENSMUST00000040019
AA Change: E218D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006
AA Change: E218D

Domain	Start	End	E-Value	Type
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: ENSMUST00000230261
AA Change: E57D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000230532
AA Change: E218D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230891

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	probably damaging	Het

Other mutations in Sox10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGTTGCCCATCTCTCAGAAGCACC -3'
(R):5'- TGAACGAAAGTGACAAGCGCCC -3'

Sequencing Primer
(F):5'- GGTTCCATATTCCAGCTAGGGTAAC -3'
(R):5'- AAGCGCCCCTTCATTGAG -3'

Posted On

2014-04-13