Incidental Mutation 'IGL01943:Stat4'
ID180922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stat4
Ensembl Gene ENSMUSG00000062939
Gene Namesignal transducer and activator of transcription 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.403) question?
Stock #IGL01943
Quality Score
Status
Chromosome1
Chromosomal Location51987148-52107189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 52096855 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 441 (T441I)
Ref Sequence ENSEMBL: ENSMUSP00000130713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027277] [ENSMUST00000168302]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027277
AA Change: T441I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: T441I

DomainStartEndE-ValueType
STAT_int 2 122 3.73e-60 SMART
Pfam:STAT_alpha 140 314 2.2e-54 PFAM
Pfam:STAT_bind 316 562 4.7e-76 PFAM
SH2 571 681 9.07e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168302
AA Change: T441I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: T441I

DomainStartEndE-ValueType
STAT_int 2 122 3.73e-60 SMART
Pfam:STAT_alpha 137 314 8.2e-66 PFAM
Pfam:STAT_bind 316 563 3.3e-114 PFAM
SH2 571 681 9.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185516
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. Homozygous knockout mice for this gene exhibit reduced inflammation and cytokine production in response to immune challenge. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous inactivation of this gene leads to altered cytokine production of T-cells, impaired IL-12 responses, enhanced Th2 cell development, decreased susceptibility to autoimmune diabetes, altered NK cell responses during viral infection, and increased susceptibility to Salmonella infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,096,483 K169E probably benign Het
Ago4 A G 4: 126,517,195 V167A probably damaging Het
AI314180 A G 4: 58,849,937 F429L possibly damaging Het
Bcam C T 7: 19,765,498 R200H probably damaging Het
Cblb G A 16: 52,139,633 probably null Het
Cdc37 T C 9: 21,143,113 E72G probably benign Het
Chek2 T A 5: 110,841,227 probably benign Het
Col6a1 A T 10: 76,719,123 probably null Het
Col7a1 A G 9: 108,984,016 probably null Het
Fmo3 C T 1: 162,967,006 R165H probably benign Het
Gm2663 C T 6: 40,996,076 G199D probably damaging Het
Gm6904 A T 14: 59,251,162 V62E probably damaging Het
Gm8108 T C 14: 4,127,217 S134P probably damaging Het
Kif1b A T 4: 149,214,905 probably null Het
Krt76 T A 15: 101,889,045 D293V probably null Het
Lifr T A 15: 7,188,149 C853S probably damaging Het
Muc5b A T 7: 141,861,497 I2727F possibly damaging Het
Myo7a T C 7: 98,065,647 K1606R possibly damaging Het
Noxred1 G T 12: 87,223,181 Q259K probably benign Het
Obox3 C T 7: 15,626,852 E121K probably benign Het
Olfr125 G A 17: 37,835,053 R18H probably benign Het
Olfr1388 T A 11: 49,444,188 C112* probably null Het
Olfr1449 T C 19: 12,935,674 L312S probably benign Het
Olfr348 T C 2: 36,787,083 I186T probably benign Het
Pkd2l2 T C 18: 34,417,036 F245L probably damaging Het
Pla2g6 T C 15: 79,313,116 Q86R probably null Het
Polq T A 16: 37,061,443 I1044K possibly damaging Het
Pomgnt2 G T 9: 121,982,470 T415N probably benign Het
Pprc1 T A 19: 46,064,544 probably benign Het
Prol1 T A 5: 88,327,961 M70K probably benign Het
Ptpn22 T A 3: 103,886,336 V601E probably benign Het
Slc16a3 T C 11: 120,956,883 probably null Het
Slco1b2 A G 6: 141,676,286 D489G possibly damaging Het
Sphk2 T C 7: 45,710,724 probably benign Het
Tle1 A T 4: 72,122,402 V647E probably damaging Het
Tnrc6b C A 15: 80,927,695 Y814* probably null Het
Tubgcp3 A G 8: 12,654,301 F256S probably damaging Het
Uqcrb A T 13: 66,902,763 probably null Het
Vmn1r200 A T 13: 22,395,927 E300V possibly damaging Het
Zfp324 C T 7: 12,968,786 probably benign Het
Zxdc T C 6: 90,372,538 probably benign Het
Other mutations in Stat4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Stat4 APN 1 52102878 missense probably damaging 1.00
IGL00482:Stat4 APN 1 52074697 missense probably benign 0.05
IGL01395:Stat4 APN 1 52011874 missense probably damaging 1.00
IGL01533:Stat4 APN 1 52098419 missense probably damaging 1.00
IGL02114:Stat4 APN 1 52102865 missense probably damaging 1.00
IGL02151:Stat4 APN 1 52013870 missense probably damaging 0.99
IGL02601:Stat4 APN 1 52098415 missense probably damaging 1.00
R0016:Stat4 UTSW 1 52068780 missense probably benign 0.01
R0243:Stat4 UTSW 1 52011857 missense probably benign 0.22
R0329:Stat4 UTSW 1 52090870 intron probably benign
R0973:Stat4 UTSW 1 52096820 missense probably damaging 0.99
R1144:Stat4 UTSW 1 52084129 splice site probably benign
R1187:Stat4 UTSW 1 52076677 missense probably damaging 1.00
R1331:Stat4 UTSW 1 52013927 missense probably benign 0.20
R1401:Stat4 UTSW 1 52071947 splice site probably benign
R1529:Stat4 UTSW 1 52011793 missense probably damaging 1.00
R1711:Stat4 UTSW 1 52106925 missense probably damaging 1.00
R2213:Stat4 UTSW 1 52013855 missense probably damaging 0.98
R3003:Stat4 UTSW 1 52102986 missense probably damaging 1.00
R3683:Stat4 UTSW 1 52013822 missense possibly damaging 0.89
R3789:Stat4 UTSW 1 52011796 missense probably benign 0.07
R3919:Stat4 UTSW 1 52096822 missense possibly damaging 0.62
R4320:Stat4 UTSW 1 52074707 missense probably benign
R4373:Stat4 UTSW 1 52071941 critical splice donor site probably null
R5024:Stat4 UTSW 1 52082570 missense possibly damaging 0.80
R5103:Stat4 UTSW 1 52071895 missense probably damaging 0.97
R5206:Stat4 UTSW 1 52105236 missense probably damaging 0.99
R5944:Stat4 UTSW 1 52074739 missense probably damaging 1.00
R5961:Stat4 UTSW 1 52065384 missense possibly damaging 0.50
R6001:Stat4 UTSW 1 52096867 missense probably damaging 0.96
R6161:Stat4 UTSW 1 52074677 missense possibly damaging 0.94
R6262:Stat4 UTSW 1 52102201 missense probably null 1.00
R6701:Stat4 UTSW 1 52102974 missense probably damaging 1.00
R6767:Stat4 UTSW 1 52076583 missense probably benign 0.00
R6989:Stat4 UTSW 1 52068815 missense probably benign 0.09
Posted On2014-05-07