Incidental Mutation 'IGL00161:Stox1'
ID 1242
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? Probably non essential (E-score: 0.222) question?
Stock # IGL00161
Quality Score
Status
Chromosome 10
Chromosomal Location 62494822-62561907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62503692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 121 (E121G)
Ref Sequence ENSEMBL: ENSMUSP00000114652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126979] [ENSMUST00000133371] [ENSMUST00000148720]
AlphaFold B2RQL2
Predicted Effect probably benign
Transcript: ENSMUST00000126979
Predicted Effect probably damaging
Transcript: ENSMUST00000133371
AA Change: E121G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114652
Gene: ENSMUSG00000036923
AA Change: E121G

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 damaging
Transcript: ENSMUST00000148720
AA Change: E32G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116180
Gene: ENSMUSG00000036923
AA Change: E32G

DomainStartEndE-ValueType
Pfam:Stork_head 19 98 9e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218980
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,375,719 (GRCm39) V1932E probably damaging Het
Alg3 A G 16: 20,426,608 (GRCm39) V211A probably damaging Het
Bsn T C 9: 107,992,309 (GRCm39) T1148A probably benign Het
Dmbt1 G T 7: 130,711,357 (GRCm39) D1538Y probably damaging Het
Fbxl20 C T 11: 97,981,500 (GRCm39) G396D possibly damaging Het
Gsto2 A G 19: 47,863,406 (GRCm39) D94G probably damaging Het
Igf2r T C 17: 12,932,877 (GRCm39) I882V probably benign Het
Ltbp1 C T 17: 75,617,147 (GRCm39) probably benign Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Nlrp1b A C 11: 71,072,007 (GRCm39) probably benign Het
Notch3 A T 17: 32,377,088 (GRCm39) C272* probably null Het
Or4c123 A G 2: 89,126,799 (GRCm39) C272R probably benign Het
Or8g26 A G 9: 39,096,388 (GRCm39) K305E possibly damaging Het
Pard3 A G 8: 128,086,299 (GRCm39) probably benign Het
Pcsk4 A G 10: 80,158,657 (GRCm39) Y532H probably damaging Het
Pkd1l1 A G 11: 8,879,353 (GRCm39) probably null Het
Potefam3e T C 8: 19,799,499 (GRCm39) probably benign Het
Prex1 A G 2: 166,480,321 (GRCm39) Y140H probably damaging Het
Ptpdc1 C T 13: 48,740,534 (GRCm39) R238Q possibly damaging Het
Rdx A G 9: 51,997,646 (GRCm39) D540G probably damaging Het
Rnase10 T G 14: 51,247,238 (GRCm39) D168E possibly damaging Het
Slc30a5 A C 13: 100,943,174 (GRCm39) D561E probably damaging Het
Spag1 C T 15: 36,195,562 (GRCm39) R252* probably null Het
Spata31g1 A T 4: 42,973,982 (GRCm39) H1105L probably benign Het
Synm T C 7: 67,384,663 (GRCm39) M558V probably benign Het
Tenm2 C T 11: 36,097,726 (GRCm39) probably benign Het
Vmn1r64 T C 7: 5,886,827 (GRCm39) T239A probably damaging Het
Other mutations in Stox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01462:Stox1 APN 10 62,500,461 (GRCm39) missense probably benign 0.14
IGL01558:Stox1 APN 10 62,503,651 (GRCm39) missense probably damaging 0.98
IGL02391:Stox1 APN 10 62,495,455 (GRCm39) splice site probably benign
IGL02454:Stox1 APN 10 62,503,605 (GRCm39) missense probably damaging 1.00
IGL02510:Stox1 APN 10 62,499,826 (GRCm39) missense probably benign 0.14
IGL02635:Stox1 APN 10 62,500,685 (GRCm39) missense probably benign 0.02
R1036:Stox1 UTSW 10 62,503,674 (GRCm39) missense probably damaging 1.00
R1486:Stox1 UTSW 10 62,500,415 (GRCm39) missense probably benign 0.06
R1751:Stox1 UTSW 10 62,495,445 (GRCm39) missense probably damaging 0.97
R1763:Stox1 UTSW 10 62,503,744 (GRCm39) missense probably damaging 1.00
R1892:Stox1 UTSW 10 62,501,178 (GRCm39) missense possibly damaging 0.56
R2128:Stox1 UTSW 10 62,500,314 (GRCm39) missense probably benign 0.42
R2406:Stox1 UTSW 10 62,499,945 (GRCm39) missense probably benign 0.01
R4078:Stox1 UTSW 10 62,501,810 (GRCm39) missense probably benign 0.00
R4414:Stox1 UTSW 10 62,495,348 (GRCm39) missense probably benign 0.00
R4415:Stox1 UTSW 10 62,495,348 (GRCm39) missense probably benign 0.00
R4416:Stox1 UTSW 10 62,495,348 (GRCm39) missense probably benign 0.00
R4417:Stox1 UTSW 10 62,495,348 (GRCm39) missense probably benign 0.00
R4799:Stox1 UTSW 10 62,501,516 (GRCm39) missense probably damaging 1.00
R5261:Stox1 UTSW 10 62,503,620 (GRCm39) missense probably damaging 0.98
R5323:Stox1 UTSW 10 62,499,812 (GRCm39) missense possibly damaging 0.71
R5885:Stox1 UTSW 10 62,500,627 (GRCm39) missense probably damaging 0.99
R6182:Stox1 UTSW 10 62,500,721 (GRCm39) missense probably damaging 0.99
R7548:Stox1 UTSW 10 62,501,946 (GRCm39) missense probably damaging 0.99
R7757:Stox1 UTSW 10 62,499,743 (GRCm39) missense probably damaging 1.00
R7765:Stox1 UTSW 10 62,501,778 (GRCm39) missense probably benign 0.26
R7846:Stox1 UTSW 10 62,495,305 (GRCm39) missense probably damaging 1.00
R7867:Stox1 UTSW 10 62,500,723 (GRCm39) missense probably benign 0.00
R8077:Stox1 UTSW 10 62,501,345 (GRCm39) missense probably damaging 1.00
R8409:Stox1 UTSW 10 62,501,795 (GRCm39) missense probably benign 0.00
R8413:Stox1 UTSW 10 62,500,754 (GRCm39) missense probably damaging 1.00
R8443:Stox1 UTSW 10 62,501,543 (GRCm39) missense probably damaging 1.00
R8822:Stox1 UTSW 10 62,499,900 (GRCm39) missense probably damaging 1.00
R8888:Stox1 UTSW 10 62,495,386 (GRCm39) missense probably benign 0.05
R8895:Stox1 UTSW 10 62,495,386 (GRCm39) missense probably benign 0.05
R8937:Stox1 UTSW 10 62,500,430 (GRCm39) missense probably damaging 0.96
R9012:Stox1 UTSW 10 62,500,611 (GRCm39) missense probably benign 0.00
R9201:Stox1 UTSW 10 62,501,352 (GRCm39) missense probably damaging 1.00
RF014:Stox1 UTSW 10 62,500,025 (GRCm39) missense probably benign 0.06
Z1176:Stox1 UTSW 10 62,499,797 (GRCm39) missense probably benign 0.01
Posted On 2011-07-12