Incidental Mutation 'R3789:Stat4'
ID 272415
Institutional Source Beutler Lab
Gene Symbol Stat4
Ensembl Gene ENSMUSG00000062939
Gene Name signal transducer and activator of transcription 4
Synonyms
MMRRC Submission 041604-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R3789 (G1)
Quality Score 144
Status Not validated
Chromosome 1
Chromosomal Location 52026307-52146348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52050955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 5 (N5D)
Ref Sequence ENSEMBL: ENSMUSP00000130713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027277] [ENSMUST00000168302]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027277
AA Change: N5D

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939
AA Change: N5D

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 benign
Transcript: ENSMUST00000168302
AA Change: N5D

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939
AA Change: N5D

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,460,668 (GRCm39) I4226N probably damaging Het
Abhd16a A G 17: 35,320,563 (GRCm39) N411S probably damaging Het
Acvrl1 C T 15: 101,035,350 (GRCm39) T292M probably damaging Het
Adamts8 T C 9: 30,870,588 (GRCm39) S688P probably damaging Het
Adprs A T 4: 126,210,544 (GRCm39) I312N probably damaging Het
Bclaf3 A G X: 158,349,492 (GRCm39) H619R probably benign Het
Clca4a C A 3: 144,680,717 (GRCm39) G20V probably damaging Het
Col12a1 C A 9: 79,547,005 (GRCm39) V2276L possibly damaging Het
Cstdc2 C A 2: 148,689,878 (GRCm39) E92* probably null Het
Drosha T A 15: 12,912,623 (GRCm39) Y1080* probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Ebf2 T A 14: 67,476,942 (GRCm39) probably null Het
Emc8 T C 8: 121,384,869 (GRCm39) T195A probably benign Het
Frs3 G A 17: 48,010,621 (GRCm39) probably null Het
Fsip2 T C 2: 82,813,058 (GRCm39) S640P probably damaging Het
Hdhd2 G A 18: 77,042,883 (GRCm39) probably null Het
Hivep3 T C 4: 119,955,613 (GRCm39) S1310P probably damaging Het
Hltf C T 3: 20,123,211 (GRCm39) P200S probably damaging Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Lrp1 T C 10: 127,407,838 (GRCm39) D1817G possibly damaging Het
Lrpprc T C 17: 85,078,956 (GRCm39) I253V probably benign Het
Map2 A G 1: 66,456,022 (GRCm39) T1512A probably damaging Het
Mcm9 G A 10: 53,492,113 (GRCm39) R403W probably damaging Het
Mms22l A G 4: 24,517,115 (GRCm39) D222G possibly damaging Het
Mug1 G A 6: 121,861,587 (GRCm39) V1350I probably benign Het
Or56b2j T A 7: 104,353,156 (GRCm39) D127E probably damaging Het
Pclo A G 5: 14,730,464 (GRCm39) probably benign Het
Plekha7 A C 7: 115,774,969 (GRCm39) I175R probably damaging Het
Plxnb1 T A 9: 108,938,355 (GRCm39) V1303D possibly damaging Het
Pou2f1 G C 1: 165,722,538 (GRCm39) P349R probably damaging Het
Prmt8 A T 6: 127,688,110 (GRCm39) I236N probably damaging Het
Rexo2 A G 9: 48,384,362 (GRCm39) I139T probably damaging Het
Rsbn1l A C 5: 21,101,106 (GRCm39) S811R probably benign Het
Sec24b T C 3: 129,814,276 (GRCm39) D345G probably benign Het
Serpina1b A G 12: 103,695,531 (GRCm39) S337P probably damaging Het
Sinhcaf A G 6: 148,827,617 (GRCm39) S134P possibly damaging Het
Snx33 T C 9: 56,825,844 (GRCm39) E539G probably benign Het
Sorcs3 A G 19: 48,387,150 (GRCm39) T212A possibly damaging Het
Spa17 T G 9: 37,523,141 (GRCm39) K49Q possibly damaging Het
St3gal6 C T 16: 58,305,136 (GRCm39) E109K probably benign Het
Tmem232 C T 17: 65,689,520 (GRCm39) D532N probably benign Het
Tmem232 C A 17: 65,689,628 (GRCm39) D496Y possibly damaging Het
Tmem81 A G 1: 132,435,809 (GRCm39) N205S probably benign Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vmn2r23 A T 6: 123,718,348 (GRCm39) N567I probably damaging Het
Other mutations in Stat4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Stat4 APN 1 52,142,037 (GRCm39) missense probably damaging 1.00
IGL00482:Stat4 APN 1 52,113,856 (GRCm39) missense probably benign 0.05
IGL01395:Stat4 APN 1 52,051,033 (GRCm39) missense probably damaging 1.00
IGL01533:Stat4 APN 1 52,137,578 (GRCm39) missense probably damaging 1.00
IGL01943:Stat4 APN 1 52,136,014 (GRCm39) missense possibly damaging 0.94
IGL02114:Stat4 APN 1 52,142,024 (GRCm39) missense probably damaging 1.00
IGL02151:Stat4 APN 1 52,053,029 (GRCm39) missense probably damaging 0.99
IGL02601:Stat4 APN 1 52,137,574 (GRCm39) missense probably damaging 1.00
R0016:Stat4 UTSW 1 52,107,939 (GRCm39) missense probably benign 0.01
R0243:Stat4 UTSW 1 52,051,016 (GRCm39) missense probably benign 0.22
R0329:Stat4 UTSW 1 52,130,029 (GRCm39) intron probably benign
R0973:Stat4 UTSW 1 52,135,979 (GRCm39) missense probably damaging 0.99
R1144:Stat4 UTSW 1 52,123,288 (GRCm39) splice site probably benign
R1187:Stat4 UTSW 1 52,115,836 (GRCm39) missense probably damaging 1.00
R1331:Stat4 UTSW 1 52,053,086 (GRCm39) missense probably benign 0.20
R1401:Stat4 UTSW 1 52,111,106 (GRCm39) splice site probably benign
R1529:Stat4 UTSW 1 52,050,952 (GRCm39) missense probably damaging 1.00
R1711:Stat4 UTSW 1 52,146,084 (GRCm39) missense probably damaging 1.00
R2213:Stat4 UTSW 1 52,053,014 (GRCm39) missense probably damaging 0.98
R3003:Stat4 UTSW 1 52,142,145 (GRCm39) missense probably damaging 1.00
R3683:Stat4 UTSW 1 52,052,981 (GRCm39) missense possibly damaging 0.89
R3919:Stat4 UTSW 1 52,135,981 (GRCm39) missense possibly damaging 0.62
R4320:Stat4 UTSW 1 52,113,866 (GRCm39) missense probably benign
R4373:Stat4 UTSW 1 52,111,100 (GRCm39) critical splice donor site probably null
R5024:Stat4 UTSW 1 52,121,729 (GRCm39) missense possibly damaging 0.80
R5103:Stat4 UTSW 1 52,111,054 (GRCm39) missense probably damaging 0.97
R5206:Stat4 UTSW 1 52,144,395 (GRCm39) missense probably damaging 0.99
R5944:Stat4 UTSW 1 52,113,898 (GRCm39) missense probably damaging 1.00
R5961:Stat4 UTSW 1 52,104,543 (GRCm39) missense possibly damaging 0.50
R6001:Stat4 UTSW 1 52,136,026 (GRCm39) missense probably damaging 0.96
R6161:Stat4 UTSW 1 52,113,836 (GRCm39) missense possibly damaging 0.94
R6262:Stat4 UTSW 1 52,141,360 (GRCm39) missense probably null 1.00
R6701:Stat4 UTSW 1 52,142,133 (GRCm39) missense probably damaging 1.00
R6767:Stat4 UTSW 1 52,115,742 (GRCm39) missense probably benign 0.00
R6989:Stat4 UTSW 1 52,107,974 (GRCm39) missense probably benign 0.09
R7507:Stat4 UTSW 1 52,117,733 (GRCm39) missense probably damaging 1.00
R7539:Stat4 UTSW 1 52,110,868 (GRCm39) splice site probably null
R7546:Stat4 UTSW 1 52,137,622 (GRCm39) missense probably damaging 0.98
R7616:Stat4 UTSW 1 52,053,037 (GRCm39) nonsense probably null
R7751:Stat4 UTSW 1 52,121,711 (GRCm39) missense possibly damaging 0.73
R8052:Stat4 UTSW 1 52,118,932 (GRCm39) missense probably damaging 1.00
R8311:Stat4 UTSW 1 52,142,075 (GRCm39) missense probably damaging 1.00
R8419:Stat4 UTSW 1 52,137,637 (GRCm39) missense possibly damaging 0.89
R8679:Stat4 UTSW 1 52,118,991 (GRCm39) missense probably null 1.00
R8699:Stat4 UTSW 1 52,111,096 (GRCm39) missense probably benign
R8738:Stat4 UTSW 1 52,115,711 (GRCm39) missense possibly damaging 0.95
R8921:Stat4 UTSW 1 52,144,892 (GRCm39) missense probably benign 0.39
R9013:Stat4 UTSW 1 52,050,957 (GRCm39) missense probably benign 0.00
R9237:Stat4 UTSW 1 52,146,073 (GRCm39) missense probably benign
R9729:Stat4 UTSW 1 52,141,762 (GRCm39) missense possibly damaging 0.94
R9767:Stat4 UTSW 1 52,141,653 (GRCm39) missense probably damaging 1.00
Z1177:Stat4 UTSW 1 52,137,644 (GRCm39) missense probably null 1.00
Z1177:Stat4 UTSW 1 52,123,258 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCAAACACTGGATGCTGAG -3'
(R):5'- CCAAAAGGAATGCATCTACTCAGTC -3'

Sequencing Primer
(F):5'- CACTGGATGCTGAGTTTTAAATGC -3'
(R):5'- GGCCATAGAATATATGACTAGGACAC -3'
Posted On 2015-03-25