Mutagenetix > Incidental Mutation

Incidental Mutation 'R0589:Sox10'

55896

Institutional Source

Beutler Lab

Gene Symbol

Sox10

Ensembl Gene

ENSMUSG00000033006

Gene Name

SRY (sex determining region Y)-box 10

Synonyms

Sox21, gt

MMRRC Submission

038779-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0589 (G1)

Quality Score

110

Status

Validated

Chromosome

Chromosomal Location

79039113-79048690 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 79047485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155574 (fasta)

Gene Model

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

AlphaFold

Q04888

Predicted Effect

probably benign
Transcript: ENSMUST00000040019

SMART Domains

Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006

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

noncoding transcript
Transcript: ENSMUST00000130745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147620

Predicted Effect

probably benign
Transcript: ENSMUST00000230261

Predicted Effect

probably benign
Transcript: ENSMUST00000230532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230891

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.1%

Validation Efficiency

98% (62/63)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,833,094 (GRCm39)	A1202E	probably damaging	Het
Abcc12	A	T	8: 87,287,101 (GRCm39)	I155N	possibly damaging	Het
Atf4	T	A	15: 80,140,640 (GRCm39)	H47Q	probably damaging	Het
Atm	T	A	9: 53,401,492 (GRCm39)	D1459V	possibly damaging	Het
Bicral	A	G	17: 47,112,522 (GRCm39)	S893P	probably benign	Het
Camk2a	G	A	18: 61,097,036 (GRCm39)		probably null	Het
Cebpz	G	A	17: 79,244,308 (GRCm39)	T51I	probably damaging	Het
Cers5	A	T	15: 99,638,837 (GRCm39)	D208E	probably damaging	Het
Cimip2b	T	C	4: 43,427,355 (GRCm39)		probably benign	Het
Cyp1a2	T	C	9: 57,586,345 (GRCm39)	D391G	possibly damaging	Het
Dct	G	T	14: 118,280,682 (GRCm39)	F111L	probably benign	Het
Ddb1	T	G	19: 10,599,080 (GRCm39)	I529S	probably benign	Het
Dhx9	G	T	1: 153,348,037 (GRCm39)	Q361K	probably damaging	Het
Dnai3	A	G	3: 145,768,086 (GRCm39)	S592P	probably benign	Het
Erbin	G	T	13: 104,022,795 (GRCm39)	R15S	probably damaging	Het
F13b	T	C	1: 139,434,671 (GRCm39)	S146P	possibly damaging	Het
Ggnbp2	A	T	11: 84,727,277 (GRCm39)	C520S	probably damaging	Het
Gpx3	A	G	11: 54,800,329 (GRCm39)	I208V	probably benign	Het
Grk3	A	G	5: 113,076,629 (GRCm39)		probably benign	Het
Heatr9	T	C	11: 83,405,516 (GRCm39)		probably benign	Het
Heg1	T	G	16: 33,552,077 (GRCm39)	I762R	probably damaging	Het
Ints11	A	T	4: 155,971,343 (GRCm39)	T264S	probably damaging	Het
Ints14	T	C	9: 64,887,113 (GRCm39)	L348P	probably damaging	Het
Maco1	C	A	4: 134,555,528 (GRCm39)	C315F	probably benign	Het
Marf1	C	A	16: 13,959,919 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,174,075 (GRCm39)	Y1808H	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrpl45	A	T	11: 97,214,714 (GRCm39)	T134S	probably benign	Het
Myh8	A	G	11: 67,189,453 (GRCm39)	I1210V	probably benign	Het
Nsd3	T	C	8: 26,131,303 (GRCm39)	S223P	probably damaging	Het
Or2j6	T	G	7: 139,980,813 (GRCm39)	S49R	possibly damaging	Het
Or4c115	A	G	2: 88,927,606 (GRCm39)	F222L	probably benign	Het
Or5be3	A	T	2: 86,864,459 (GRCm39)	Y35*	probably null	Het
P3h3	T	A	6: 124,818,644 (GRCm39)	E731D	probably damaging	Het
Pcdhac2	A	G	18: 37,279,527 (GRCm39)	R836G	probably benign	Het
Pdzd2	A	G	15: 12,376,385 (GRCm39)	V1250A	probably benign	Het
Pgbd1	G	A	13: 21,618,600 (GRCm39)	T19I	possibly damaging	Het
Phtf2	T	A	5: 21,018,249 (GRCm39)	R31*	probably null	Het
Plod2	T	A	9: 92,475,799 (GRCm39)	V294D	probably benign	Het
Rassf5	C	T	1: 131,172,720 (GRCm39)	G50R	probably damaging	Het
Rexo5	A	G	7: 119,444,606 (GRCm39)	T694A	probably benign	Het
Rtcb	A	C	10: 85,787,315 (GRCm39)	S82A	probably damaging	Het
Rufy4	T	C	1: 74,172,042 (GRCm39)	L255P	probably damaging	Het
Slc35c1	A	G	2: 92,284,859 (GRCm39)	F252L	probably damaging	Het
Slco6d1	A	T	1: 98,427,472 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,529,028 (GRCm39)	M1762V	probably benign	Het
Stat3	A	T	11: 100,798,909 (GRCm39)	Y94N	probably damaging	Het
Tasor	T	C	14: 27,183,107 (GRCm39)	I522T	probably benign	Het
Tecta	T	A	9: 42,256,930 (GRCm39)	Y1582F	probably benign	Het
Tex44	A	G	1: 86,355,453 (GRCm39)	D454G	probably damaging	Het
Tle6	A	G	10: 81,431,253 (GRCm39)		probably benign	Het
Tmod2	T	C	9: 75,484,041 (GRCm39)	E303G	probably damaging	Het
Trem1	A	G	17: 48,544,245 (GRCm39)	D90G	possibly damaging	Het
Trhde	A	T	10: 114,284,229 (GRCm39)	D751E	probably benign	Het
Ttn	A	T	2: 76,795,589 (GRCm39)		probably null	Het
Vars2	T	C	17: 35,970,068 (GRCm39)	T774A	probably benign	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
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
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'- AGACCAGCTCTCTCCCAAAGTTTCC -3'
(R):5'- ATGACAAGTTCCCCGTGTGCATCC -3'

Sequencing Primer
(F):5'- CAGCGGCACACTGTGAATG -3'
(R):5'- AGCGGCTACGACTGGAC -3'

Posted On

2013-07-11