Incidental Mutation 'R6036:Stat6'
ID 479223
Institutional Source Beutler Lab
Gene Symbol Stat6
Ensembl Gene ENSMUSG00000002147
Gene Name signal transducer and activator of transcription 6
Synonyms
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.741) question?
Stock # R6036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127478855-127496826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127491313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 485 (N485D)
Ref Sequence ENSEMBL: ENSMUSP00000089708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092074] [ENSMUST00000120279]
AlphaFold P52633
Predicted Effect possibly damaging
Transcript: ENSMUST00000092074
AA Change: N485D

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: N485D

DomainStartEndE-ValueType
STAT_int 2 116 2.76e-31 SMART
Pfam:STAT_bind 273 526 4.4e-87 PFAM
SH2 540 622 1.33e-5 SMART
Pfam:STAT6_C 655 837 1.1e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120279
SMART Domains Protein: ENSMUSP00000112722
Gene: ENSMUSG00000002147

DomainStartEndE-ValueType
Pfam:STAT_int 2 109 2.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156231
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired IL4 responses, including anti-IgM stimulated B cell proliferation, class switching to IgE, contact sensitivity, and Th2 cytokine production, and show increased resistance to certain infections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably damaging Het
Other mutations in Stat6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Stat6 APN 10 127,490,801 (GRCm39) missense probably damaging 1.00
IGL01785:Stat6 APN 10 127,493,096 (GRCm39) missense probably damaging 1.00
IGL02939:Stat6 APN 10 127,482,809 (GRCm39) missense probably benign 0.05
IGL03266:Stat6 APN 10 127,493,024 (GRCm39) missense possibly damaging 0.88
IGL03412:Stat6 APN 10 127,494,074 (GRCm39) missense probably benign 0.00
Rigid UTSW 10 127,494,571 (GRCm39) critical splice donor site probably null
Stationary UTSW 10 127,488,091 (GRCm39) missense possibly damaging 0.93
PIT4142001:Stat6 UTSW 10 127,494,099 (GRCm39) missense possibly damaging 0.95
R0165:Stat6 UTSW 10 127,493,096 (GRCm39) missense probably damaging 0.98
R0581:Stat6 UTSW 10 127,483,985 (GRCm39) missense probably damaging 0.99
R0735:Stat6 UTSW 10 127,494,110 (GRCm39) missense probably damaging 1.00
R1333:Stat6 UTSW 10 127,487,094 (GRCm39) missense possibly damaging 0.62
R1352:Stat6 UTSW 10 127,486,680 (GRCm39) missense probably benign 0.32
R1457:Stat6 UTSW 10 127,494,114 (GRCm39) missense probably damaging 0.98
R1538:Stat6 UTSW 10 127,489,125 (GRCm39) missense probably damaging 1.00
R1696:Stat6 UTSW 10 127,488,918 (GRCm39) missense probably damaging 1.00
R2016:Stat6 UTSW 10 127,486,665 (GRCm39) missense probably damaging 1.00
R3236:Stat6 UTSW 10 127,488,091 (GRCm39) missense possibly damaging 0.93
R3980:Stat6 UTSW 10 127,491,248 (GRCm39) missense probably damaging 1.00
R4467:Stat6 UTSW 10 127,487,097 (GRCm39) missense probably damaging 1.00
R5346:Stat6 UTSW 10 127,488,182 (GRCm39) missense probably benign 0.44
R5481:Stat6 UTSW 10 127,483,695 (GRCm39) splice site probably null
R5722:Stat6 UTSW 10 127,494,242 (GRCm39) missense probably benign 0.00
R6036:Stat6 UTSW 10 127,491,313 (GRCm39) missense possibly damaging 0.58
R6244:Stat6 UTSW 10 127,493,581 (GRCm39) splice site probably null
R6914:Stat6 UTSW 10 127,487,131 (GRCm39) missense probably damaging 1.00
R6937:Stat6 UTSW 10 127,494,571 (GRCm39) critical splice donor site probably null
R6942:Stat6 UTSW 10 127,487,131 (GRCm39) missense probably damaging 1.00
R8231:Stat6 UTSW 10 127,482,842 (GRCm39) missense possibly damaging 0.61
R8995:Stat6 UTSW 10 127,494,511 (GRCm39) missense probably benign 0.00
R9162:Stat6 UTSW 10 127,487,089 (GRCm39) missense probably damaging 0.99
R9192:Stat6 UTSW 10 127,493,479 (GRCm39) missense probably damaging 1.00
R9252:Stat6 UTSW 10 127,483,661 (GRCm39) missense probably benign 0.02
Predicted Primers
Posted On 2017-06-26