Mutagenetix > Incidental Mutation

Incidental Mutation 'R1635:Sox10'

173116

Institutional Source

Beutler Lab

Gene Symbol

Sox10

Ensembl Gene

ENSMUSG00000033006

Gene Name

SRY (sex determining region Y)-box 10

Synonyms

Sox21, gt

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1635 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79039113-79048690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79040660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 293 (D293E)

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: D293E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039466
Gene: ENSMUSG00000033006
AA Change: D293E

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: ENSMUST00000040077

SMART Domains

Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020

Domain	Start	End	E-Value	Type
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: D132E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000230271

Predicted Effect

probably damaging
Transcript: ENSMUST00000230532
AA Change: D293E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,334,868 (GRCm39)	I1947F	probably benign	Het
Adgrd1	G	T	5: 129,205,971 (GRCm39)	V182F	probably damaging	Het
Agmat	A	G	4: 141,474,380 (GRCm39)	D87G	probably damaging	Het
AI182371	T	C	2: 34,978,749 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,470,452 (GRCm39)	H1559Q	probably damaging	Het
Ankar	T	C	1: 72,689,297 (GRCm39)	Y1278C	probably damaging	Het
Arhgef2	A	T	3: 88,546,628 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Banp	A	T	8: 122,727,750 (GRCm39)	I130F	probably damaging	Het
C130050O18Rik	G	T	5: 139,400,248 (GRCm39)	R100S	probably benign	Het
Carmil3	A	G	14: 55,733,739 (GRCm39)	T374A	possibly damaging	Het
Cc2d2a	T	A	5: 43,879,812 (GRCm39)	W1076R	probably damaging	Het
Cdc34	T	G	10: 79,523,888 (GRCm39)	S235A	probably benign	Het
Cdh8	G	T	8: 99,757,656 (GRCm39)	H647Q	probably damaging	Het
Cdk1	A	T	10: 69,174,377 (GRCm39)	L282Q	probably damaging	Het
Ceacam3	A	G	7: 16,893,902 (GRCm39)	D471G	probably damaging	Het
Ciao2b	A	T	8: 105,367,620 (GRCm39)	I108N	possibly damaging	Het
Cltc	A	T	11: 86,648,105 (GRCm39)	I4N	probably benign	Het
Cntfr	T	A	4: 41,658,816 (GRCm39)	E305V	probably damaging	Het
Cwh43	T	A	5: 73,591,653 (GRCm39)	I496N	probably damaging	Het
Cyp2f2	A	G	7: 26,829,149 (GRCm39)	N218S	probably benign	Het
D16Ertd472e	A	G	16: 78,343,392 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,459,351 (GRCm39)	Q400R	possibly damaging	Het
Dapl1	A	T	2: 59,326,906 (GRCm39)	I51F	probably benign	Het
Drc7	G	A	8: 95,800,960 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,811,219 (GRCm39)	T1101A	probably damaging	Het
Fam83c	C	A	2: 155,671,971 (GRCm39)	R488M	possibly damaging	Het
Fbxo42	A	G	4: 140,927,840 (GRCm39)	T707A	probably damaging	Het
Fcmr	A	T	1: 130,803,922 (GRCm39)		probably null	Het
Fer1l6	G	C	15: 58,518,930 (GRCm39)	K1687N	probably damaging	Het
Fgd4	G	A	16: 16,292,893 (GRCm39)	R275*	probably null	Het
Fxr2	G	A	11: 69,532,139 (GRCm39)	C87Y	possibly damaging	Het
Gja4	A	T	4: 127,206,472 (GRCm39)	I97N	probably damaging	Het
Gm136	A	G	4: 34,750,919 (GRCm39)		probably null	Het
Gm14496	A	G	2: 181,642,837 (GRCm39)	D836G	possibly damaging	Het
Grm3	T	A	5: 9,561,520 (GRCm39)	T777S	probably damaging	Het
Guca2b	A	G	4: 119,514,912 (GRCm39)	Y50H	probably damaging	Het
Herc2	C	T	7: 55,786,415 (GRCm39)	P1587S	probably benign	Het
Hmcn1	C	T	1: 150,545,309 (GRCm39)	S2766N	probably benign	Het
Idi2	T	A	13: 9,009,455 (GRCm39)	I224K	probably damaging	Het
Kmt2a	A	T	9: 44,735,666 (GRCm39)		probably benign	Het
Lonp2	A	T	8: 87,440,078 (GRCm39)	M693L	possibly damaging	Het
Megf8	G	T	7: 25,046,172 (GRCm39)	M1525I	possibly damaging	Het
Mgme1	T	C	2: 144,121,018 (GRCm39)	V276A	possibly damaging	Het
Mief2	G	T	11: 60,622,234 (GRCm39)	W268L	probably damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mreg	T	C	1: 72,231,356 (GRCm39)	N34S	probably benign	Het
Myf6	T	C	10: 107,330,534 (GRCm39)	Y11C	probably damaging	Het
Myh9	C	A	15: 77,655,367 (GRCm39)	Q1196H	probably benign	Het
Myh9	A	T	15: 77,660,099 (GRCm39)	D56E	probably benign	Het
Myo5c	A	T	9: 75,184,357 (GRCm39)	R949S	probably benign	Het
Ncapg2	TAA	TA	12: 116,398,305 (GRCm39)		probably null	Het
Nfx1	T	A	4: 40,977,004 (GRCm39)	V226E	probably benign	Het
Nlrp10	T	A	7: 108,523,737 (GRCm39)	K581M	possibly damaging	Het
Nmd3	T	G	3: 69,647,317 (GRCm39)	I273S	probably benign	Het
Or4c3	A	T	2: 89,852,314 (GRCm39)	I32N	possibly damaging	Het
P4hb	T	C	11: 120,462,442 (GRCm39)	E88G	probably damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pdia4	A	T	6: 47,776,133 (GRCm39)	F421L	possibly damaging	Het
Picalm	T	A	7: 89,840,459 (GRCm39)	S538T	probably damaging	Het
Ppp2r2b	T	A	18: 43,192,275 (GRCm39)	I11F	probably benign	Het
Prb1c	A	G	6: 132,339,969 (GRCm39)		probably null	Het
Ptk7	C	T	17: 46,884,460 (GRCm39)	E757K	possibly damaging	Het
Rbm22	T	G	18: 60,694,340 (GRCm39)	C24W	probably damaging	Het
Rev3l	A	G	10: 39,682,658 (GRCm39)	D288G	probably damaging	Het
Rgs18	T	A	1: 144,629,791 (GRCm39)	H156L	probably benign	Het
Rnf213	A	G	11: 119,333,405 (GRCm39)	I2871M	probably damaging	Het
Rrm2b	A	T	15: 37,945,328 (GRCm39)	M137K	probably damaging	Het
Rrp12	A	T	19: 41,857,224 (GRCm39)	D1183E	probably benign	Het
Sacs	G	A	14: 61,441,277 (GRCm39)	V1108M	probably damaging	Het
Scube2	A	T	7: 109,442,421 (GRCm39)	D270E	possibly damaging	Het
Serpina3a	T	A	12: 104,082,737 (GRCm39)	F170Y	probably damaging	Het
Serpinb3b	T	C	1: 107,082,403 (GRCm39)	E287G	probably benign	Het
Slamf8	C	T	1: 172,412,186 (GRCm39)	V130M	probably damaging	Het
Slc5a3	T	C	16: 91,874,284 (GRCm39)	S114P	possibly damaging	Het
Sos1	T	A	17: 80,730,108 (GRCm39)		probably null	Het
Sphk1	A	G	11: 116,426,596 (GRCm39)	D177G	probably damaging	Het
Sphkap	T	G	1: 83,256,121 (GRCm39)	M543L	probably benign	Het
Syt13	A	T	2: 92,783,760 (GRCm39)	K343N	probably damaging	Het
Tatdn3	A	G	1: 190,792,373 (GRCm39)	M34T	probably benign	Het
Timd4	T	G	11: 46,732,989 (GRCm39)	V305G	possibly damaging	Het
Tnnc2	T	C	2: 164,619,512 (GRCm39)	I111V	probably benign	Het
Togaram2	C	T	17: 72,004,846 (GRCm39)	P301L	probably benign	Het
Trpc3	T	C	3: 36,694,776 (GRCm39)	N726S	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ugt1a5	T	A	1: 88,093,805 (GRCm39)		probably benign	Het
Ulk3	A	T	9: 57,500,443 (GRCm39)		probably null	Het
Unc5d	T	A	8: 29,250,777 (GRCm39)	I297L	probably benign	Het
Usp20	A	G	2: 30,908,830 (GRCm39)	I804V	probably benign	Het
Usp22	G	T	11: 61,052,144 (GRCm39)	C278*	probably null	Het
Usp53	A	T	3: 122,727,872 (GRCm39)	N903K	probably benign	Het
V1rd19	T	C	7: 23,702,812 (GRCm39)	F93L	probably benign	Het
Zdbf2	T	A	1: 63,343,493 (GRCm39)	V624E	possibly damaging	Het
Zfyve16	A	T	13: 92,645,528 (GRCm39)	S1073T	probably damaging	Het
Zkscan8	T	C	13: 21,710,765 (GRCm39)	H115R	possibly 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
R1517:Sox10	UTSW	15	79,043,378 (GRCm39)	missense	probably benign	0.00
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'- CTGATGGTCAGAATAGTCAAACTGGGG -3'
(R):5'- GCTCAGCACGTTAAGTAGTATGACAGG -3'

Sequencing Primer
(F):5'- TGGGCTTTGGCATCCAC -3'
(R):5'- CAGAGGTCCTATTGCCTAGAC -3'

Posted On

2014-04-24