Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Sox14'

366223

Institutional Source

Beutler Lab

Gene Symbol

Sox14

Ensembl Gene

ENSMUSG00000053747

Gene Name

SRY (sex determining region Y)-box 14

Synonyms

MMRRC Submission

042408-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99756159-99758223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99757686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 18 (W18R)

Ref Sequence

ENSEMBL: ENSMUSP00000091310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054819]

AlphaFold

Q04892

Predicted Effect

probably damaging
Transcript: ENSMUST00000054819
AA Change: W18R

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

SMART Domains

Protein: ENSMUSP00000091310
Gene: ENSMUSG00000053747
AA Change: W18R

Domain	Start	End	E-Value	Type
HMG	7	77	6.94e-30	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000183065
AA Change: W8R

Meta Mutation Damage Score

0.9633

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,029,804 (GRCm39)		probably null	Het
Aig1	T	C	10: 13,677,602 (GRCm39)	N130S	probably damaging	Het
Alx1	A	T	10: 102,861,047 (GRCm39)	Y160*	probably null	Het
Ap4e1	T	C	2: 126,902,358 (GRCm39)	I755T	probably benign	Het
Apoc3	C	A	9: 46,145,833 (GRCm39)	E21*	probably null	Het
Atp9b	G	T	18: 80,796,285 (GRCm39)	H919Q	probably damaging	Het
Cemip	T	G	7: 83,622,514 (GRCm39)	Y555S	probably damaging	Het
Cic	T	C	7: 24,971,025 (GRCm39)	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,588,470 (GRCm39)	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,130,578 (GRCm39)	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,859,954 (GRCm39)	S318P	probably benign	Het
Ddx21	A	G	10: 62,427,751 (GRCm39)	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,620 (GRCm39)	T974I	probably benign	Het
Duox1	A	G	2: 122,163,922 (GRCm39)	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,066,498 (GRCm39)	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,591,119 (GRCm39)	Q92L	possibly damaging	Het
Ercc4	C	A	16: 12,939,959 (GRCm39)	A73D	probably damaging	Het
Eva1c	A	T	16: 90,701,235 (GRCm39)	Y290F	probably damaging	Het
Galnt5	T	A	2: 57,918,156 (GRCm39)	V798E	possibly damaging	Het
Haus4	T	C	14: 54,786,342 (GRCm39)	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,594,556 (GRCm39)	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Lama3	T	C	18: 12,633,620 (GRCm39)	V1584A	probably benign	Het
Lamb1	A	G	12: 31,358,010 (GRCm39)	E1119G	probably damaging	Het
Lao1	T	C	4: 118,825,185 (GRCm39)	L335P	probably damaging	Het
Mindy4	A	G	6: 55,237,550 (GRCm39)	D375G	probably damaging	Het
Myo5a	T	C	9: 75,051,358 (GRCm39)	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,558,898 (GRCm39)	V128I	probably benign	Het
Nlrp2	C	T	7: 5,331,023 (GRCm39)	D458N	probably damaging	Het
Or1j18	A	T	2: 36,624,335 (GRCm39)	M1L	probably benign	Het
Or1o1	T	A	17: 37,717,091 (GRCm39)	C217*	probably null	Het
Or5a1	G	T	19: 12,097,300 (GRCm39)	H247N	probably damaging	Het
Or8g24	T	C	9: 38,989,988 (GRCm39)	T18A	possibly damaging	Het
Or9q2	A	T	19: 13,772,409 (GRCm39)	C189S	probably damaging	Het
Parp8	T	C	13: 117,005,072 (GRCm39)	H663R	probably damaging	Het
Pax6	T	C	2: 105,525,705 (GRCm39)	S377P	probably benign	Het
Pi15	A	G	1: 17,672,990 (GRCm39)	D63G	probably benign	Het
Plaa	A	G	4: 94,474,495 (GRCm39)		probably benign	Het
Rbm5	C	A	9: 107,622,412 (GRCm39)	W546C	probably damaging	Het
Rnf123	C	A	9: 107,929,288 (GRCm39)	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,382,551 (GRCm39)	S45P	possibly damaging	Het
Sh3bp1	T	C	15: 78,788,697 (GRCm39)	S241P	possibly damaging	Het
Slfn8	G	A	11: 82,894,023 (GRCm39)	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,151,547 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,848,969 (GRCm39)	E1053G	probably benign	Het
Syne1	T	A	10: 5,294,866 (GRCm39)	K1246*	probably null	Het
Tbrg4	A	C	11: 6,570,909 (GRCm39)	S188A	probably benign	Het
Thnsl2	A	T	6: 71,111,279 (GRCm39)	D196E	probably damaging	Het
Tmem266	C	T	9: 55,288,025 (GRCm39)	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,938,748 (GRCm39)	R111L	probably benign	Het
Tpr	T	C	1: 150,306,280 (GRCm39)		probably benign	Het
Trpc6	T	C	9: 8,643,687 (GRCm39)	S491P	probably damaging	Het
Tspan10	A	T	11: 120,336,992 (GRCm39)	N254I	probably damaging	Het
Ubox5	A	T	2: 130,433,814 (GRCm39)	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 23,754,531 (GRCm39)		probably null	Het
Vmn2r4	C	T	3: 64,298,397 (GRCm39)	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,291,606 (GRCm39)	M53K	probably benign	Het
Zfp948	T	A	17: 21,808,569 (GRCm39)	I587N	possibly damaging	Het

Other mutations in Sox14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Sox14	APN	9	99,757,716 (GRCm39)	missense	probably benign	0.45
IGL01766:Sox14	APN	9	99,757,169 (GRCm39)	missense	probably damaging	1.00
IGL02147:Sox14	APN	9	99,757,598 (GRCm39)	missense	probably damaging	1.00
IGL03204:Sox14	APN	9	99,757,110 (GRCm39)	missense	probably benign	0.00
IGL03367:Sox14	APN	9	99,757,715 (GRCm39)	missense	probably damaging	1.00
R0420:Sox14	UTSW	9	99,757,175 (GRCm39)	missense	probably damaging	1.00
R1224:Sox14	UTSW	9	99,757,168 (GRCm39)	missense	probably damaging	1.00
R3896:Sox14	UTSW	9	99,757,636 (GRCm39)	missense	probably damaging	1.00
R4081:Sox14	UTSW	9	99,757,277 (GRCm39)	missense	possibly damaging	0.83
R4611:Sox14	UTSW	9	99,757,715 (GRCm39)	missense	probably damaging	0.99
R4786:Sox14	UTSW	9	99,757,018 (GRCm39)	missense	probably benign	0.01
R4814:Sox14	UTSW	9	99,757,284 (GRCm39)	missense	probably benign	0.00
R9569:Sox14	UTSW	9	99,757,562 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ACTTGTAGTCAGGGTGCTCC -3'
(R):5'- TTGAAAACTTTGCAGGGTCAGC -3'

Sequencing Primer
(F):5'- AGTCAGGGTGCTCCTTCATG -3'
(R):5'- GAAAACTTTGCAGGGTCAGCTCTTC -3'

Posted On

2015-12-21