Incidental Mutation 'IGL02391:Stox1'
ID293872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stox1
Ensembl Gene ENSMUSG00000036923
Gene Namestorkhead box 1
Synonyms4732470K04Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.253) question?
Stock #IGL02391
Quality Score
Status
Chromosome10
Chromosomal Location62659043-62726128 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 62659676 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133371] [ENSMUST00000148720]
Predicted Effect probably benign
Transcript: ENSMUST00000133371
SMART Domains Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
RF014:Stox1 UTSW 10 62664246 missense probably benign 0.06
Z1176:Stox1 UTSW 10 62664018 missense probably benign 0.01
Posted On2015-04-16