Incidental Mutation 'IGL02151:Stat4'
ID282028
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 #IGL02151
Quality Score
Status
Chromosome1
Chromosomal Location51987148-52107189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 52013870 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 70 (R70H)
Ref Sequence ENSEMBL: ENSMUSP00000130713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027277] [ENSMUST00000168302]
Predicted Effect probably damaging
Transcript: ENSMUST00000027277
AA Change: R70H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: R70H

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 probably damaging
Transcript: ENSMUST00000168302
AA Change: R70H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: R70H

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: ENSMUST00000187053
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik C T 5: 98,329,442 T24M probably damaging Het
Adgra3 G T 5: 49,979,142 T667N probably benign Het
Aff4 T C 11: 53,399,806 I531T probably benign Het
Akap9 C T 5: 4,032,728 Q1951* probably null Het
Arhgef10 C T 8: 14,928,889 T52M possibly damaging Het
Atg2a A G 19: 6,255,757 E1132G possibly damaging Het
AW551984 A C 9: 39,592,945 I575S probably benign Het
Cog7 T C 7: 121,943,808 E460G probably damaging Het
Ctse A G 1: 131,672,535 I341V probably benign Het
Dcpp1 A T 17: 23,882,594 I106L possibly damaging Het
Dcxr T A 11: 120,725,983 M158L probably benign Het
Dnah11 A T 12: 118,059,888 probably benign Het
Dnah7a T A 1: 53,472,864 I3013F probably benign Het
Dnah8 A G 17: 30,648,417 D281G possibly damaging Het
Dpysl3 G A 18: 43,358,300 H136Y probably damaging Het
Eaf1 C T 14: 31,497,787 T61M probably damaging Het
Fmnl1 A G 11: 103,192,772 T441A probably benign Het
Gm6169 T A 13: 97,099,174 T22S probably null Het
Hmgcll1 C T 9: 76,081,438 P197L probably benign Het
Kdm4b T C 17: 56,396,234 V643A probably benign Het
Lrch2 A G X: 147,553,720 F111L possibly damaging Het
Macf1 A T 4: 123,371,766 probably benign Het
Mfsd4b2 T C 10: 39,921,691 N223D probably damaging Het
Mug1 G A 6: 121,884,690 probably null Het
Nek7 A T 1: 138,487,100 L270Q probably damaging Het
Nexn T A 3: 152,248,244 D127V probably damaging Het
Nxf3 A G X: 136,079,573 F130S probably damaging Het
Olfr655 A G 7: 104,596,534 S216P probably damaging Het
Olfr96 T A 17: 37,225,166 F14I probably damaging Het
Pcdhb16 G A 18: 37,478,358 V124I possibly damaging Het
Podxl T C 6: 31,524,459 D387G possibly damaging Het
Rab3d C A 9: 21,915,724 R70M probably damaging Het
Ripk2 A T 4: 16,139,240 M219K possibly damaging Het
Rnf146 A G 10: 29,347,353 V179A probably damaging Het
Robo1 G T 16: 72,989,616 V839L probably benign Het
Rttn T A 18: 89,020,205 N808K probably damaging Het
Slc12a3 T G 8: 94,348,592 V738G probably benign Het
Slc26a3 T C 12: 31,447,831 V78A probably damaging Het
Slc26a9 G A 1: 131,764,043 V675M probably damaging Het
Sncb T A 13: 54,762,696 I76F probably benign Het
Tle6 T C 10: 81,598,640 M42V probably benign Het
Tmem67 T C 4: 12,068,882 T439A probably benign Het
Ugt2b35 C A 5: 87,003,282 T249K possibly damaging Het
Vmn1r231 C T 17: 20,889,735 R306K probably benign Het
Vmn1r42 A T 6: 89,845,041 I182N possibly damaging Het
Zfhx3 T C 8: 108,793,883 S546P probably damaging Het
Zic3 G T X: 58,031,539 probably null 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
IGL01943:Stat4 APN 1 52096855 missense possibly damaging 0.94
IGL02114:Stat4 APN 1 52102865 missense probably damaging 1.00
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 On2015-04-16