Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02510:Stox1'

296481

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stox1

Ensembl Gene

ENSMUSG00000036923

Gene Name

storkhead box 1

Synonyms

4732470K04Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

62659043-62726128 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62664047 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 911 (H911Q)

Ref Sequence

ENSEMBL: ENSMUSP00000114652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126979] [ENSMUST00000133371] [ENSMUST00000148720]

Predicted Effect

probably benign
Transcript: ENSMUST00000126979

Predicted Effect

probably benign
Transcript: ENSMUST00000133371
AA Change: H911Q

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: H911Q

Domain	Start	End	E-Value	Type
low complexity region	31	71	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
Pfam:Stork_head	108	186	4.4e-37	PFAM
low complexity region	416	429	N/A	INTRINSIC
low complexity region	448	459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148720

SMART Domains

Protein: ENSMUSP00000116180
Gene: ENSMUSG00000036923

Domain	Start	End	E-Value	Type
Pfam:Stork_head	19	98	9e-40	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,251,390	S193N	probably benign	Het
Arrdc1	C	A	2: 24,935,100	V16F	probably damaging	Het
Bsx	A	T	9: 40,874,221	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704	T253A	probably benign	Het
Cdkl3	T	C	11: 52,011,270	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,725,357	N237K	probably benign	Het
Cldn14	T	A	16: 93,919,956	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398	R171C	unknown	Het
Col7a1	C	A	9: 108,973,231		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,236,075	V64M	probably damaging	Het
Disp3	G	A	4: 148,252,701	H886Y	probably benign	Het
Dst	G	A	1: 34,229,251		probably null	Het
Fnbp4	T	C	2: 90,751,475	V215A	probably benign	Het
Fzd9	A	G	5: 135,249,615	L472P	probably damaging	Het
Gm5096	A	G	18: 87,757,529	Q392R	probably benign	Het
Hpd	C	T	5: 123,181,910	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,051,611	V412A	probably damaging	Het
Ift80	A	G	3: 68,898,543	F722S	probably benign	Het
Kcnq2	T	C	2: 181,081,361	T741A	probably benign	Het
Kl	A	C	5: 150,989,001	E738D	probably damaging	Het
Klra4	T	A	6: 130,059,543	I178L	probably damaging	Het
Klra9	T	C	6: 130,191,222	E27G	probably benign	Het
Kntc1	T	C	5: 123,819,062	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,257,029	M417K	probably benign	Het
Med31	C	T	11: 72,212,056	M75I	probably benign	Het
Mpeg1	A	T	19: 12,461,424	D82V	probably damaging	Het
Msto1	A	G	3: 88,910,345	Y439H	probably damaging	Het
Olfr23	G	A	11: 73,941,005	G253E	probably damaging	Het
Olfr332	T	C	11: 58,490,539	Y72C	probably damaging	Het
Olfr344	T	C	2: 36,568,681	S28P	possibly damaging	Het
Olfr488	T	A	7: 108,256,141		probably benign	Het
Prtg	G	A	9: 72,890,869	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,588,272	A186S	probably benign	Het
Slc12a5	A	T	2: 164,982,808		probably benign	Het
Slc7a3	T	C	X: 101,082,833	E222G	probably benign	Het
Sult3a2	A	T	10: 33,766,439	N289K	probably benign	Het
Supt20	A	G	3: 54,715,524		probably benign	Het
Tchh	A	G	3: 93,444,078	E275G	unknown	Het
Tectb	A	T	19: 55,191,511	N263I	probably damaging	Het
Tsga10	C	T	1: 37,760,985	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,629,464	Y390H	probably damaging	Het
Utf1	C	A	7: 139,944,016	S48*	probably null	Het
Zfp358	G	A	8: 3,496,786	G456D	probably benign	Het
Zufsp	A	G	10: 33,930,154		probably null	Het

Other mutations in Stox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Stox1	APN	10	62667913	missense	probably damaging	1.00
IGL01462:Stox1	APN	10	62664682	missense	probably benign	0.14
IGL01558:Stox1	APN	10	62667872	missense	probably damaging	0.98
IGL02391:Stox1	APN	10	62659676	splice site	probably benign
IGL02454:Stox1	APN	10	62667826	missense	probably damaging	1.00
IGL02635:Stox1	APN	10	62664906	missense	probably benign	0.02
R1036:Stox1	UTSW	10	62667895	missense	probably damaging	1.00
R1486:Stox1	UTSW	10	62664636	missense	probably benign	0.06
R1751:Stox1	UTSW	10	62659666	missense	probably damaging	0.97
R1763:Stox1	UTSW	10	62667965	missense	probably damaging	1.00
R1892:Stox1	UTSW	10	62665399	missense	possibly damaging	0.56
R2128:Stox1	UTSW	10	62664535	missense	probably benign	0.42
R2406:Stox1	UTSW	10	62664166	missense	probably benign	0.01
R4078:Stox1	UTSW	10	62666031	missense	probably benign	0.00
R4414:Stox1	UTSW	10	62659569	missense	probably benign	0.00
R4415:Stox1	UTSW	10	62659569	missense	probably benign	0.00
R4416:Stox1	UTSW	10	62659569	missense	probably benign	0.00
R4417:Stox1	UTSW	10	62659569	missense	probably benign	0.00
R4799:Stox1	UTSW	10	62665737	missense	probably damaging	1.00
R5261:Stox1	UTSW	10	62667841	missense	probably damaging	0.98
R5323:Stox1	UTSW	10	62664033	missense	possibly damaging	0.71
R5885:Stox1	UTSW	10	62664848	missense	probably damaging	0.99
R6182:Stox1	UTSW	10	62664942	missense	probably damaging	0.99
R7548:Stox1	UTSW	10	62666167	missense	probably damaging	0.99
R7757:Stox1	UTSW	10	62663964	missense	probably damaging	1.00
R7765:Stox1	UTSW	10	62665999	missense	probably benign	0.26
R7846:Stox1	UTSW	10	62659526	missense	probably damaging	1.00
R7867:Stox1	UTSW	10	62664944	missense	probably benign	0.00
R7929:Stox1	UTSW	10	62659526	missense	probably damaging	1.00
R7950:Stox1	UTSW	10	62664944	missense	probably benign	0.00
RF014:Stox1	UTSW	10	62664246	missense	probably benign	0.06

Posted On

2015-04-16