Incidental Mutation 'IGL03307:Stox2'
ID 416419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stox2
Ensembl Gene ENSMUSG00000038143
Gene Name storkhead box 2
Synonyms 4933409N07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # IGL03307
Quality Score
Status
Chromosome 8
Chromosomal Location 47633083-47866943 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47647065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 132 (T132A)
Ref Sequence ENSEMBL: ENSMUSP00000147477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079195] [ENSMUST00000110367] [ENSMUST00000209337] [ENSMUST00000210030] [ENSMUST00000210153] [ENSMUST00000211737] [ENSMUST00000211882]
AlphaFold Q499E5
Predicted Effect probably damaging
Transcript: ENSMUST00000079195
AA Change: T132A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078190
Gene: ENSMUSG00000038143
AA Change: T132A

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Pfam:Stork_head 63 141 4.5e-35 PFAM
low complexity region 225 236 N/A INTRINSIC
low complexity region 352 377 N/A INTRINSIC
low complexity region 459 473 N/A INTRINSIC
low complexity region 654 674 N/A INTRINSIC
low complexity region 717 731 N/A INTRINSIC
low complexity region 783 795 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110367
AA Change: T70A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105996
Gene: ENSMUSG00000038143
AA Change: T70A

DomainStartEndE-ValueType
Pfam:Stork_head 1 79 5.6e-35 PFAM
low complexity region 163 174 N/A INTRINSIC
low complexity region 290 315 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
low complexity region 592 612 N/A INTRINSIC
low complexity region 655 669 N/A INTRINSIC
low complexity region 721 733 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209337
Predicted Effect possibly damaging
Transcript: ENSMUST00000210030
AA Change: T70A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000210153
AA Change: T70A

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000211737
AA Change: T132A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211882
AA Change: T196A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T C 12: 88,425,823 (GRCm39) I417T possibly damaging Het
Arrdc1 A T 2: 24,816,354 (GRCm39) I205N probably damaging Het
Atp6v1a A G 16: 43,931,922 (GRCm39) V122A possibly damaging Het
Atp8a2 A G 14: 60,253,321 (GRCm39) probably null Het
Cdh18 A G 15: 23,226,872 (GRCm39) H111R probably damaging Het
Cpsf3 T A 12: 21,346,715 (GRCm39) I196N possibly damaging Het
Cyp2b9 C T 7: 25,898,476 (GRCm39) S277L probably benign Het
Grik3 T C 4: 125,535,347 (GRCm39) M248T possibly damaging Het
Gusb T C 5: 130,028,872 (GRCm39) *145W probably null Het
Il18rap T C 1: 40,582,227 (GRCm39) Y383H probably benign Het
Lama4 T C 10: 38,893,379 (GRCm39) V162A probably benign Het
Macc1 A T 12: 119,410,155 (GRCm39) M308L probably benign Het
Or52s1b C T 7: 102,822,623 (GRCm39) V74I probably benign Het
Or8g27 A T 9: 39,129,309 (GRCm39) I219F probably benign Het
Postn A G 3: 54,282,548 (GRCm39) D503G probably benign Het
Robo3 A T 9: 37,333,860 (GRCm39) V658D probably damaging Het
Scrn1 G A 6: 54,525,322 (GRCm39) R16* probably null Het
Setd1b C A 5: 123,286,734 (GRCm39) D593E unknown Het
Slc2a13 C T 15: 91,160,317 (GRCm39) V546M probably damaging Het
Spock1 T C 13: 57,577,160 (GRCm39) D423G probably null Het
Tle2 T C 10: 81,426,074 (GRCm39) S703P probably damaging Het
Trgc1 A G 13: 19,398,528 (GRCm39) probably benign Het
Ttc41 T C 10: 86,580,304 (GRCm39) I750T possibly damaging Het
Vmn2r107 A T 17: 20,577,038 (GRCm39) K345N probably benign Het
Vmn2r60 T C 7: 41,765,971 (GRCm39) V26A probably benign Het
Vmn2r98 G A 17: 19,286,242 (GRCm39) V247I possibly damaging Het
Zan A G 5: 137,472,287 (GRCm39) V153A probably damaging Het
Other mutations in Stox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Stox2 APN 8 47,646,647 (GRCm39) missense probably damaging 1.00
IGL02331:Stox2 APN 8 47,644,979 (GRCm39) missense probably damaging 0.96
IGL02399:Stox2 APN 8 47,639,573 (GRCm39) missense probably damaging 0.99
IGL03091:Stox2 APN 8 47,646,222 (GRCm39) missense possibly damaging 0.66
IGL03143:Stox2 APN 8 47,646,839 (GRCm39) missense possibly damaging 0.78
R0082:Stox2 UTSW 8 47,656,317 (GRCm39) splice site probably benign
R0313:Stox2 UTSW 8 47,645,169 (GRCm39) missense probably damaging 1.00
R0382:Stox2 UTSW 8 47,656,319 (GRCm39) splice site probably benign
R0513:Stox2 UTSW 8 47,646,900 (GRCm39) missense probably damaging 1.00
R0539:Stox2 UTSW 8 47,647,070 (GRCm39) missense probably damaging 0.97
R0920:Stox2 UTSW 8 47,646,053 (GRCm39) missense probably damaging 1.00
R1764:Stox2 UTSW 8 47,647,051 (GRCm39) nonsense probably null
R1923:Stox2 UTSW 8 47,646,661 (GRCm39) missense probably damaging 1.00
R2311:Stox2 UTSW 8 47,645,013 (GRCm39) missense probably damaging 1.00
R3196:Stox2 UTSW 8 47,645,865 (GRCm39) missense probably damaging 0.99
R3715:Stox2 UTSW 8 47,866,187 (GRCm39) missense possibly damaging 0.90
R4300:Stox2 UTSW 8 47,647,027 (GRCm39) nonsense probably null
R4534:Stox2 UTSW 8 47,646,414 (GRCm39) missense probably damaging 1.00
R4600:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4601:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4602:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4603:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4610:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4624:Stox2 UTSW 8 47,646,851 (GRCm39) missense probably damaging 1.00
R4672:Stox2 UTSW 8 47,645,141 (GRCm39) missense probably damaging 1.00
R4888:Stox2 UTSW 8 47,656,198 (GRCm39) missense probably damaging 1.00
R4944:Stox2 UTSW 8 47,866,300 (GRCm39) missense possibly damaging 0.46
R5331:Stox2 UTSW 8 47,866,662 (GRCm39) utr 5 prime probably benign
R5349:Stox2 UTSW 8 47,740,951 (GRCm39) missense possibly damaging 0.70
R5367:Stox2 UTSW 8 47,656,260 (GRCm39) missense probably damaging 1.00
R5471:Stox2 UTSW 8 47,646,548 (GRCm39) missense probably damaging 0.96
R5561:Stox2 UTSW 8 47,646,041 (GRCm39) missense probably damaging 1.00
R5630:Stox2 UTSW 8 47,644,925 (GRCm39) missense probably damaging 1.00
R5719:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5733:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5996:Stox2 UTSW 8 47,656,182 (GRCm39) missense possibly damaging 0.93
R6170:Stox2 UTSW 8 47,645,055 (GRCm39) missense probably benign 0.02
R6458:Stox2 UTSW 8 47,645,079 (GRCm39) missense possibly damaging 0.66
R6786:Stox2 UTSW 8 47,639,500 (GRCm39) missense probably damaging 1.00
R6815:Stox2 UTSW 8 47,646,136 (GRCm39) missense probably damaging 1.00
R6951:Stox2 UTSW 8 47,656,167 (GRCm39) missense probably damaging 1.00
R7193:Stox2 UTSW 8 47,639,489 (GRCm39) missense probably benign
R7330:Stox2 UTSW 8 47,645,271 (GRCm39) missense possibly damaging 0.61
R7552:Stox2 UTSW 8 47,656,154 (GRCm39) critical splice donor site probably null
R8001:Stox2 UTSW 8 47,639,512 (GRCm39) missense probably benign 0.06
R8266:Stox2 UTSW 8 47,645,060 (GRCm39) missense probably damaging 0.99
R8506:Stox2 UTSW 8 47,645,108 (GRCm39) missense possibly damaging 0.79
R8935:Stox2 UTSW 8 47,645,895 (GRCm39) missense possibly damaging 0.66
R9261:Stox2 UTSW 8 47,645,441 (GRCm39) missense possibly damaging 0.78
R9325:Stox2 UTSW 8 47,647,095 (GRCm39) missense probably benign 0.45
R9505:Stox2 UTSW 8 47,645,304 (GRCm39) missense probably benign 0.28
X0027:Stox2 UTSW 8 47,646,875 (GRCm39) missense possibly damaging 0.95
Z1177:Stox2 UTSW 8 47,647,085 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02