Incidental Mutation 'R4373:Stat4'
ID 326041
Institutional Source Beutler Lab
Gene Symbol Stat4
Ensembl Gene ENSMUSG00000062939
Gene Name signal transducer and activator of transcription 4
Synonyms
MMRRC Submission 041675-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 52026307-52146348 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 52111100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027277] [ENSMUST00000027277] [ENSMUST00000168302] [ENSMUST00000168302]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000027277
SMART Domains Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939

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 null
Transcript: ENSMUST00000027277
SMART Domains Protein: ENSMUSP00000027277
Gene: ENSMUSG00000062939

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 null
Transcript: ENSMUST00000168302
SMART Domains Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939

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 probably null
Transcript: ENSMUST00000168302
SMART Domains Protein: ENSMUSP00000130713
Gene: ENSMUSG00000062939

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
Meta Mutation Damage Score 0.9490 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,478,535 (GRCm39) probably benign Het
Akr1b1 A C 6: 34,281,202 (GRCm39) probably benign Het
Armh4 T A 14: 50,007,893 (GRCm39) T527S probably damaging Het
Asns A T 6: 7,677,978 (GRCm39) S367T probably damaging Het
BC034090 T C 1: 155,101,904 (GRCm39) N120S probably benign Het
Bub1 A T 2: 127,647,156 (GRCm39) probably benign Het
Csf1 T A 3: 107,664,055 (GRCm39) T38S probably damaging Het
Ctsz T C 2: 174,270,378 (GRCm39) E268G possibly damaging Het
Dach1 G A 14: 98,065,186 (GRCm39) T685I possibly damaging Het
Dclre1a A G 19: 56,533,874 (GRCm39) L240S probably benign Het
Ercc1 G A 7: 19,081,057 (GRCm39) probably benign Het
Esam C T 9: 37,445,492 (GRCm39) T71I probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Gde1 A G 7: 118,297,781 (GRCm39) L35P possibly damaging Het
Gm10382 A G 5: 125,466,647 (GRCm39) probably benign Het
H2-M10.6 T C 17: 37,123,958 (GRCm39) Y141H probably damaging Het
Hk1 C A 10: 62,151,319 (GRCm39) K10N probably damaging Het
Lamc3 A G 2: 31,788,244 (GRCm39) K135E probably damaging Het
Lrtm2 A G 6: 119,297,489 (GRCm39) F184S probably damaging Het
Marchf11 A G 15: 26,309,532 (GRCm39) E62G probably damaging Het
Mtcl1 T A 17: 66,687,074 (GRCm39) T611S probably benign Het
Myc A T 15: 61,861,513 (GRCm39) H373L probably damaging Het
Myh6 T A 14: 55,199,565 (GRCm39) I249F probably damaging Het
Naaa T C 5: 92,426,002 (GRCm39) probably benign Het
Nfib A G 4: 82,241,895 (GRCm39) V432A probably damaging Het
Nmt1 A G 11: 102,934,026 (GRCm39) K55R probably damaging Het
Opa3 C T 7: 18,978,699 (GRCm39) R55W probably damaging Het
Or4c122 T C 2: 89,079,589 (GRCm39) R150G possibly damaging Het
Pfn4 T A 12: 4,820,182 (GRCm39) D10E probably damaging Het
Pld5 T A 1: 175,967,583 (GRCm39) I91F probably damaging Het
Plec A C 15: 76,067,317 (GRCm39) S1350A probably damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Ppp1r16b T C 2: 158,603,685 (GRCm39) Y537H probably damaging Het
Prdm8 T C 5: 98,334,367 (GRCm39) S645P probably damaging Het
Rgs1 T C 1: 144,123,644 (GRCm39) T94A probably benign Het
Rpl11 G A 4: 135,778,454 (GRCm39) probably benign Het
Sanbr A T 11: 23,565,265 (GRCm39) probably null Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Sgsm1 TTTTATATT TTT 5: 113,405,989 (GRCm39) probably benign Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Tex9 A T 9: 72,387,877 (GRCm39) probably null Het
Tsku T C 7: 98,002,038 (GRCm39) T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r116 A C 17: 23,620,395 (GRCm39) I710L probably benign Het
Vmn2r16 A T 5: 109,511,667 (GRCm39) I625F probably damaging Het
Xpo4 G A 14: 57,828,479 (GRCm39) Q794* probably null Het
Zfp112 T A 7: 23,824,473 (GRCm39) I147N probably damaging Het
Zmiz1 T C 14: 25,636,434 (GRCm39) S140P 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
R3789:Stat4 UTSW 1 52,050,955 (GRCm39) missense probably benign 0.07
R3919:Stat4 UTSW 1 52,135,981 (GRCm39) missense possibly damaging 0.62
R4320:Stat4 UTSW 1 52,113,866 (GRCm39) missense probably benign
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'- GCTGTTGGAGATTGGCTACC -3'
(R):5'- GCAGTGGGCATCATTTCTTATG -3'

Sequencing Primer
(F):5'- TCTATGGCAGGCTTAAGC -3'
(R):5'- TGGGCATCATTTCTTATGTAACTTG -3'
Posted On 2015-07-06