Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Sox4'

306802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sox4

Ensembl Gene

ENSMUSG00000076431

Gene Name

SRY (sex determining region Y)-box 4

Synonyms

Sox-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

28948919-28953713 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28952973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 17 (G17W)

Ref Sequence

ENSEMBL: ENSMUSP00000100013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067230]

AlphaFold

Q06831

PDB Structure

Structure of the Sox4 HMG domain bound to DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067230
AA Change: G17W

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

SMART Domains

Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: G17W

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
HMG	58	128	3.66e-29	SMART
low complexity region	132	150	N/A	INTRINSIC
low complexity region	157	183	N/A	INTRINSIC
low complexity region	233	253	N/A	INTRINSIC
internal_repeat_1	268	285	7.33e-5	PROSPERO
internal_repeat_1	278	295	7.33e-5	PROSPERO
low complexity region	304	324	N/A	INTRINSIC
low complexity region	330	363	N/A	INTRINSIC
low complexity region	364	374	N/A	INTRINSIC
low complexity region	377	400	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180992

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at embryonic day 14 due to circulatory failure and showing impaired development of the semilunar valves and the muscular ventricular septum. Null fetal liver cells are unable to develop into B-cells in chimeric mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Sox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL00164:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL00230:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL00231:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL00232:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL00310:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL00333:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL00335:Sox4	APN	13	28952973	missense	probably damaging	1.00
IGL01293:Sox4	APN	13	28952681	missense	probably damaging	1.00
IGL01761:Sox4	APN	13	28952807	missense	possibly damaging	0.68
R0594:Sox4	UTSW	13	28952904	missense	probably damaging	1.00
R1896:Sox4	UTSW	13	28952144	missense	probably damaging	1.00
R1969:Sox4	UTSW	13	28952648	missense	probably damaging	1.00
R2051:Sox4	UTSW	13	28952781	missense	probably damaging	1.00
R2235:Sox4	UTSW	13	28952630	missense	probably damaging	1.00
R5855:Sox4	UTSW	13	28952996	missense	probably damaging	1.00
R7177:Sox4	UTSW	13	28953017	missense	probably damaging	1.00
R8811:Sox4	UTSW	13	28952928	missense	probably damaging	0.99
R9557:Sox4	UTSW	13	28952930	missense	probably damaging	0.99
R9614:Sox4	UTSW	13	28952096	missense	probably damaging	1.00

Posted On

2015-04-16