Incidental Mutation 'IGL01395:Stat4'
ID79397
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 essential (E-score: 0.517) question?
Stock #IGL01395
Quality Score
Status
Chromosome1
Chromosomal Location51987148-52107189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 52011874 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 31 (R31W)
Ref Sequence ENSEMBL: ENSMUSP00000130713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027277] [ENSMUST00000168302]
Predicted Effect probably damaging
Transcript: ENSMUST00000027277
AA Change: R31W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: R31W

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: R31W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: R31W

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,442,810 R52H probably benign Het
Alg8 T A 7: 97,378,176 Y84N possibly damaging Het
B3gnt4 T A 5: 123,511,068 F165L probably damaging Het
Calcrl T C 2: 84,368,575 I157V probably benign Het
Clpx T C 9: 65,301,851 S83P probably benign Het
Col7a1 G A 9: 108,983,912 probably benign Het
Cttn A G 7: 144,457,727 V115A probably damaging Het
Dcaf1 G A 9: 106,858,162 V770I possibly damaging Het
Ddx19a A G 8: 110,990,532 probably benign Het
Dennd6a T A 14: 26,616,901 Y175* probably null Het
Dhx58 C T 11: 100,703,926 G48D probably damaging Het
Dnah8 T A 17: 30,636,005 F178I probably benign Het
Eif5b T C 1: 38,037,258 I629T probably damaging Het
Frrs1 A G 3: 116,901,005 I492V probably benign Het
Gm16505 G A 13: 3,361,242 noncoding transcript Het
Golga4 G A 9: 118,535,373 G259D probably damaging Het
Gpatch8 T C 11: 102,480,708 H668R unknown Het
Gucy2c G T 6: 136,698,029 Q1019K probably damaging Het
Hivep2 T C 10: 14,132,800 probably null Het
Jph2 T C 2: 163,339,927 N439S probably benign Het
Knl1 T A 2: 119,071,566 D1249E probably damaging Het
Lrrc37a A G 11: 103,503,861 V246A probably benign Het
Mast1 T C 8: 84,912,815 D1295G possibly damaging Het
Mical2 T A 7: 112,323,585 M599K probably damaging Het
Nr3c2 T C 8: 76,908,848 S193P possibly damaging Het
Nr4a2 T A 2: 57,112,153 Q33L probably damaging Het
Nrap A T 19: 56,361,793 M514K probably damaging Het
Olfr1501 A T 19: 13,838,952 S74T probably damaging Het
Olfr198 T A 16: 59,202,097 T110S possibly damaging Het
Olfr412 T C 11: 74,364,887 F73L probably damaging Het
Pde5a T C 3: 122,817,955 I514T probably benign Het
Plxna4 A G 6: 32,239,433 V569A probably damaging Het
Ppm1k T C 6: 57,513,958 H324R probably benign Het
Prdm5 A G 6: 65,870,390 H155R possibly damaging Het
Prpf19 C T 19: 10,901,011 T287I probably damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Pygb C A 2: 150,801,583 Q97K probably benign Het
Rab27b T C 18: 69,985,217 K210E probably benign Het
Rttn T G 18: 89,129,770 N2182K possibly damaging Het
Rusc1 T C 3: 89,092,421 Q18R probably damaging Het
Tas2r135 T A 6: 42,405,912 C128* probably null Het
Tm9sf3 T C 19: 41,256,276 E54G probably damaging Het
Tmx1 A T 12: 70,460,477 probably null Het
Tnrc6c T A 11: 117,723,113 V859E probably benign Het
Uggt1 T C 1: 36,155,077 D1360G probably damaging 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
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
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
R7507:Stat4 UTSW 1 52078574 missense probably damaging 1.00
R7546:Stat4 UTSW 1 52098463 missense probably damaging 0.98
Posted On2013-11-05