Mutagenetix > Incidental Mutation

Incidental Mutation 'R9557:Sox4'

720823

Institutional Source

Beutler Lab

Gene Symbol

Sox4

Ensembl Gene

ENSMUSG00000076431

Gene Name

SRY (sex determining region Y)-box 4

Synonyms

Sox-4

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29132902-29137682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29136913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 31 (A31E)

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: A31E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100013
Gene: ENSMUSG00000076431
AA Change: A31E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,160 (GRCm39)	N204K	possibly damaging	Het
Aadacl2fm3	T	G	3: 59,784,654 (GRCm39)	F376V	possibly damaging	Het
Abca5	A	G	11: 110,197,109 (GRCm39)	L523P	probably damaging	Het
Adcy5	T	C	16: 35,091,327 (GRCm39)	V590A	probably damaging	Het
Alg1	A	T	16: 5,057,820 (GRCm39)	D238V	probably damaging	Het
Ankrd55	C	A	13: 112,485,347 (GRCm39)	P187H	probably damaging	Het
Aox4	G	T	1: 58,285,095 (GRCm39)	V616F	probably benign	Het
Apc	C	A	18: 34,451,412 (GRCm39)	H2769Q	probably damaging	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
C2cd2l	G	A	9: 44,231,127 (GRCm39)	A20V	probably benign	Het
Catsperg1	T	C	7: 28,904,223 (GRCm39)	D266G	probably damaging	Het
Ces4a	A	G	8: 105,869,527 (GRCm39)	S233G	possibly damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Cyp2b13	A	C	7: 25,780,123 (GRCm39)	N91T	probably benign	Het
Dhx9	A	C	1: 153,333,292 (GRCm39)	M1151R	probably benign	Het
Dync2i2	G	A	2: 29,922,534 (GRCm39)	A366V	possibly damaging	Het
E2f5	G	T	3: 14,653,311 (GRCm39)	L142F	probably benign	Het
Egflam	G	T	15: 7,241,656 (GRCm39)	N917K	probably damaging	Het
Ercc6l2	C	T	13: 63,989,936 (GRCm39)	R254C	probably damaging	Het
Erh	G	A	12: 80,689,571 (GRCm39)	P18S	probably benign	Het
Fam110b	T	C	4: 5,799,064 (GRCm39)	S161P	probably damaging	Het
Fam210a	TAAAATGTTCCAAA	TAAA	18: 68,408,848 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,180,458 (GRCm39)	I1775V	probably damaging	Het
Fry	C	A	5: 150,389,781 (GRCm39)	Q137K		Het
Gm4787	A	T	12: 81,426,074 (GRCm39)	L28*	probably null	Het
Gpr179	A	G	11: 97,235,029 (GRCm39)	F434L	probably damaging	Het
Grik2	T	C	10: 49,404,105 (GRCm39)	Y252C	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hectd4	A	G	5: 121,459,617 (GRCm39)	T829A	possibly damaging	Het
Ing4	A	G	6: 125,025,354 (GRCm39)	E245G	probably benign	Het
Lgr4	C	T	2: 109,827,084 (GRCm39)	A196V	probably damaging	Het
Lrrc51	T	A	7: 101,562,329 (GRCm39)	K176N	probably benign	Het
Lrrc9	T	A	12: 72,532,981 (GRCm39)	M950K	probably benign	Het
Lrrd1	A	T	5: 3,901,432 (GRCm39)	D579V	probably damaging	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Magi3	A	C	3: 103,924,933 (GRCm39)	I1072S	probably damaging	Het
Mast1	G	A	8: 85,657,474 (GRCm39)	T101I	probably damaging	Het
Mccc1	A	T	3: 36,049,976 (GRCm39)	V72E	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Megf8	A	T	7: 25,058,511 (GRCm39)	Q2169L	possibly damaging	Het
Mllt6	A	G	11: 97,564,310 (GRCm39)	D342G	probably benign	Het
Mycbp2	T	A	14: 103,372,697 (GRCm39)	T4050S	probably benign	Het
Nbeal1	A	G	1: 60,274,509 (GRCm39)	T307A	probably benign	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Or52d3	T	C	7: 104,229,768 (GRCm39)	I305T	probably damaging	Het
Plat	T	C	8: 23,262,669 (GRCm39)	F125L	probably benign	Het
Ppm1b	T	A	17: 85,301,501 (GRCm39)	M127K	probably benign	Het
Ppp4r1	C	A	17: 66,110,258 (GRCm39)	D52E	probably benign	Het
Rasgrp3	T	G	17: 75,807,139 (GRCm39)	I201S	probably damaging	Het
Rfpl4b	T	A	10: 38,696,870 (GRCm39)	M244L	probably benign	Het
Rhbdl3	A	T	11: 80,244,277 (GRCm39)	H328L	probably benign	Het
Rsad2	T	A	12: 26,495,521 (GRCm39)	I325F	probably damaging	Het
Shank2	T	C	7: 143,963,847 (GRCm39)	V485A	probably benign	Het
Slc6a5	A	G	7: 49,561,474 (GRCm39)	N2S	probably benign	Het
Suv39h2	A	T	2: 3,475,451 (GRCm39)	C2S		Het
Tet2	A	G	3: 133,191,566 (GRCm39)	I956T	probably benign	Het
Topaz1	A	G	9: 122,578,530 (GRCm39)	D480G	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt1a6b	G	T	1: 88,034,820 (GRCm39)	G53*	probably null	Het
Vmn1r173	T	C	7: 23,402,209 (GRCm39)	V148A	probably damaging	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr89	A	G	12: 75,679,666 (GRCm39)	V196A	probably damaging	Het
Wfdc6a	T	A	2: 164,425,758 (GRCm39)	D71V	possibly damaging	Het
Zc3h3	T	C	15: 75,711,145 (GRCm39)	K439E	probably damaging	Het
Zfp367	T	C	13: 64,300,586 (GRCm39)	H73R	probably damaging	Het
Zfp955a	G	A	17: 33,461,107 (GRCm39)	R342*	probably null	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
R1896:Sox4	UTSW	13	29,136,127 (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
R9614:Sox4	UTSW	13	29,136,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCTTGAGCAGCTTCCAG -3'
(R):5'- TTTGGAAGATACTCCGGCTAC -3'

Sequencing Primer
(F):5'- TTGCCTAGCCGCTTGGAGATC -3'
(R):5'- AGATACTCCGGCTACCAACGTTTG -3'

Posted On

2022-08-09