Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Stox1'

293872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stox1

Ensembl Gene

ENSMUSG00000036923

Gene Name

storkhead box 1

Synonyms

4732470K04Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

62659043-62726128 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 62659676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116180 (fasta)

Gene Model

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

AlphaFold

B2RQL2

Predicted Effect

probably benign
Transcript: ENSMUST00000133371

SMART Domains

Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,553,352	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,255,167	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,528,811	S74P	probably benign	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,136,052	P74S	probably damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Scin	T	A	12: 40,077,531	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Syn3	T	C	10: 86,064,906	I373V	probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,091,227	Q147H	probably damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,434,143	D438V	probably damaging	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
IGL02454:Stox1	APN	10	62667826	missense	probably damaging	1.00
IGL02510:Stox1	APN	10	62664047	missense	probably benign	0.14
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
R8077:Stox1	UTSW	10	62665566	missense	probably damaging	1.00
R8409:Stox1	UTSW	10	62666016	missense	probably benign	0.00
R8413:Stox1	UTSW	10	62664975	missense	probably damaging	1.00
R8443:Stox1	UTSW	10	62665764	missense	probably damaging	1.00
R8822:Stox1	UTSW	10	62664121	missense	probably damaging	1.00
R8888:Stox1	UTSW	10	62659607	missense	probably benign	0.05
R8895:Stox1	UTSW	10	62659607	missense	probably benign	0.05
R8937:Stox1	UTSW	10	62664651	missense	probably damaging	0.96
R9012:Stox1	UTSW	10	62664832	missense	probably benign	0.00
R9201:Stox1	UTSW	10	62665573	missense	probably damaging	1.00
RF014:Stox1	UTSW	10	62664246	missense	probably benign	0.06
Z1176:Stox1	UTSW	10	62664018	missense	probably benign	0.01

Posted On

2015-04-16