Mutagenetix > Incidental Mutation

Incidental Mutation 'R1896:Sox4'

212004

Institutional Source

Beutler Lab

Gene Symbol

Sox4

Ensembl Gene

ENSMUSG00000076431

Gene Name

SRY (sex determining region Y)-box 4

Synonyms

Sox-4

MMRRC Submission

039916-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1896 (G1)

Quality Score

131

Status

Not validated

Chromosome

Chromosomal Location

29132902-29137682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29136127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 293 (Y293C)

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: Y293C

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

SMART Domains

Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: Y293C

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

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	C	A	2: 26,733,609 (GRCm39)	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,170,306 (GRCm39)	V277G	probably damaging	Het
Adam23	G	A	1: 63,584,731 (GRCm39)	A380T	probably benign	Het
Art2b	A	G	7: 101,229,236 (GRCm39)	V221A	probably benign	Het
Bcam	A	G	7: 19,500,640 (GRCm39)	S153P	probably damaging	Het
Bltp1	C	T	3: 36,962,380 (GRCm39)	Q494*	probably null	Het
C1qtnf1	G	T	11: 118,334,583 (GRCm39)	G21V	probably damaging	Het
Car13	T	C	3: 14,710,235 (GRCm39)	I59T	probably benign	Het
Cep97	T	C	16: 55,748,107 (GRCm39)	N108D	probably damaging	Het
Cog3	T	A	14: 75,979,784 (GRCm39)	E182D	probably benign	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Endou	A	G	15: 97,610,873 (GRCm39)	Y404H	probably damaging	Het
F12	T	C	13: 55,568,540 (GRCm39)	Y373C	probably damaging	Het
Fam221b	T	C	4: 43,660,375 (GRCm39)	T405A	probably damaging	Het
Fetub	A	G	16: 22,751,045 (GRCm39)	R131G	probably damaging	Het
Foxp2	A	T	6: 15,379,767 (GRCm39)		probably benign	Het
Ggt5	T	C	10: 75,440,560 (GRCm39)	V227A	probably damaging	Het
Gipr	A	G	7: 18,897,996 (GRCm39)	S79P	probably benign	Het
Gphn	A	G	12: 78,459,128 (GRCm39)	D72G	possibly damaging	Het
Gzmk	A	G	13: 113,309,427 (GRCm39)	S208P	probably damaging	Het
Itpkc	T	C	7: 26,907,805 (GRCm39)	D633G	probably damaging	Het
Jarid2	T	C	13: 45,038,358 (GRCm39)		probably null	Het
Kif21b	C	A	1: 136,075,583 (GRCm39)	R237S	possibly damaging	Het
Lama1	G	A	17: 68,098,218 (GRCm39)	R1805H	probably benign	Het
Lpin3	C	T	2: 160,747,218 (GRCm39)	P815S	probably damaging	Het
Lrp1	T	A	10: 127,395,867 (GRCm39)	I2468F	possibly damaging	Het
Nav1	T	C	1: 135,388,475 (GRCm39)	N1118S	probably benign	Het
Ncoa3	T	A	2: 165,890,384 (GRCm39)	I90N	probably benign	Het
Notch3	T	C	17: 32,362,402 (GRCm39)	T1408A	probably benign	Het
Nwd2	A	G	5: 63,962,753 (GRCm39)	D779G	probably benign	Het
Obox6	A	T	7: 15,568,770 (GRCm39)	H35Q	possibly damaging	Het
Pkd1l3	C	A	8: 110,350,831 (GRCm39)	P559T	possibly damaging	Het
Pou2af2	A	G	9: 51,203,098 (GRCm39)	S19P	probably damaging	Het
Pramel23	C	G	4: 143,424,714 (GRCm39)	G243A	probably benign	Het
Prex1	T	A	2: 166,428,574 (GRCm39)	I716F	probably benign	Het
Psap	C	T	10: 60,130,826 (GRCm39)	Q219*	probably null	Het
Rab5if	C	T	2: 156,707,252 (GRCm39)	P64S	probably damaging	Het
Shisa5	T	A	9: 108,885,108 (GRCm39)	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,414,931 (GRCm39)	L21P	probably benign	Het
Slc4a4	A	G	5: 89,194,167 (GRCm39)	T172A	probably damaging	Het
Sned1	C	T	1: 93,192,769 (GRCm39)	P352L	probably benign	Het
Srgap3	T	A	6: 112,715,958 (GRCm39)	H654L	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Syna	C	A	5: 134,588,006 (GRCm39)	M314I	probably benign	Het
Taf5l	A	G	8: 124,730,152 (GRCm39)	L144P	probably damaging	Het
Tll2	A	G	19: 41,101,498 (GRCm39)	F379L	probably benign	Het
Traf3ip3	A	G	1: 192,858,042 (GRCm39)	V492A	probably benign	Het
Uba2	A	G	7: 33,850,455 (GRCm39)	F364S	probably damaging	Het
Unc50	T	A	1: 37,476,323 (GRCm39)	L161Q	probably damaging	Het
Ush2a	T	C	1: 188,282,206 (GRCm39)	V1907A	probably benign	Het
Uso1	A	T	5: 92,348,992 (GRCm39)		probably null	Het
Utf1	C	A	7: 139,524,213 (GRCm39)	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,490,143 (GRCm39)	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,693,756 (GRCm39)	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,258,055 (GRCm39)	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,973,778 (GRCm39)	R335L	probably damaging	Het
Zbtb26	A	G	2: 37,326,347 (GRCm39)	S230P	possibly damaging	Het
Zfp74	A	T	7: 29,634,569 (GRCm39)	C380S	probably damaging	Het
Zfyve1	A	C	12: 83,602,388 (GRCm39)	V469G	probably damaging	Het

Other mutations in Sox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00164:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00229:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00230:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00231:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00232:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00310:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00333:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL00335:Sox4	APN	13	29,136,956 (GRCm39)	missense	probably damaging	1.00
IGL01293:Sox4	APN	13	29,136,664 (GRCm39)	missense	probably damaging	1.00
IGL01761:Sox4	APN	13	29,136,790 (GRCm39)	missense	possibly damaging	0.68
R0594:Sox4	UTSW	13	29,136,887 (GRCm39)	missense	probably damaging	1.00
R1969:Sox4	UTSW	13	29,136,631 (GRCm39)	missense	probably damaging	1.00
R2051:Sox4	UTSW	13	29,136,764 (GRCm39)	missense	probably damaging	1.00
R2235:Sox4	UTSW	13	29,136,613 (GRCm39)	missense	probably damaging	1.00
R5855:Sox4	UTSW	13	29,136,979 (GRCm39)	missense	probably damaging	1.00
R7177:Sox4	UTSW	13	29,137,000 (GRCm39)	missense	probably damaging	1.00
R8811:Sox4	UTSW	13	29,136,911 (GRCm39)	missense	probably damaging	0.99
R9557:Sox4	UTSW	13	29,136,913 (GRCm39)	missense	probably damaging	0.99
R9614:Sox4	UTSW	13	29,136,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAAGTTTGAGCTGGGGTTCAG -3'
(R):5'- TTCTCTCCAGAGCAAGCTGC -3'

Sequencing Primer
(F):5'- GTTCAGGTCGAGCAGGTC -3'
(R):5'- TCTACAAGGTGCGGACTCC -3'

Posted On

2014-06-30