Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Sox15'

157011

Institutional Source

Beutler Lab

Gene Symbol

Sox15

Ensembl Gene

ENSMUSG00000041287

Gene Name

SRY (sex determining region Y)-box 15

Synonyms

Sox16

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1340 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

69546140-69547553 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69546373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 59 (S59T)

Ref Sequence

ENSEMBL: ENSMUSP00000048524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018909] [ENSMUST00000047373] [ENSMUST00000155200] [ENSMUST00000148242]

AlphaFold

P43267

Predicted Effect

probably benign
Transcript: ENSMUST00000018905

SMART Domains

Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	141	157	N/A	INTRINSIC
CTNS	167	198	5.56e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000018909

SMART Domains

Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765

Domain	Start	End	E-Value	Type
Pfam:Agenet	72	130	1.3e-10	PFAM
KH	227	294	3.06e-3	SMART
KH	295	366	4.16e-5	SMART
low complexity region	368	380	N/A	INTRINSIC
low complexity region	389	406	N/A	INTRINSIC
low complexity region	423	442	N/A	INTRINSIC
low complexity region	475	503	N/A	INTRINSIC
Pfam:FXR_C1	504	579	2.5e-36	PFAM
low complexity region	586	599	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000047373
AA Change: S59T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048524
Gene: ENSMUSG00000041287
AA Change: S59T

Domain	Start	End	E-Value	Type
low complexity region	31	45	N/A	INTRINSIC
HMG	46	116	6.83e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125389

SMART Domains

Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
CTNS	39	70	1.69e-6	SMART
low complexity region	89	104	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149764

Predicted Effect

probably benign
Transcript: ENSMUST00000155200

SMART Domains

Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129224

SMART Domains

Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	36	48	N/A	INTRINSIC
CTNS	54	85	1.69e-6	SMART
low complexity region	138	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148242

SMART Domains

Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
CTNS	56	87	1.69e-6	SMART
low complexity region	98	109	N/A	INTRINSIC

Meta Mutation Damage Score

0.5555

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

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 regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscle fiber differentiation and in muscle regeneration after injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Ces3a	C	T	8: 105,784,545 (GRCm39)	P462L	probably damaging	Het
Cgref1	A	G	5: 31,102,690 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Mtarc2	T	C	1: 184,554,744 (GRCm39)	T254A	probably benign	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Nt5c3	A	G	6: 56,860,018 (GRCm39)	M273T	probably benign	Het
Or12j2	A	G	7: 139,916,038 (GRCm39)	T88A	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Rps17	A	G	7: 80,993,481 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het
Wscd1	T	C	11: 71,659,586 (GRCm39)	V222A	probably benign	Het

Other mutations in Sox15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1247:Sox15	UTSW	11	69,547,320 (GRCm39)	missense	probably benign	0.33
R5174:Sox15	UTSW	11	69,546,545 (GRCm39)	missense	probably damaging	1.00
R5938:Sox15	UTSW	11	69,546,556 (GRCm39)	missense	probably damaging	1.00
R5958:Sox15	UTSW	11	69,546,556 (GRCm39)	missense	probably damaging	1.00
R5959:Sox15	UTSW	11	69,546,556 (GRCm39)	missense	probably damaging	1.00
R6117:Sox15	UTSW	11	69,546,716 (GRCm39)	missense	possibly damaging	0.90
R9016:Sox15	UTSW	11	69,546,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCACAAGCAGAGACTTGGAGC -3'
(R):5'- AGATGGACACAATTAGGCACTCACG -3'

Sequencing Primer
(F):5'- AGAGACTTGGAGCCTGCATC -3'
(R):5'- TGTGAGCCACCACATGC -3'

Posted On

2014-02-11