Incidental Mutation 'IGL01097:Stat6'
ID 52090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stat6
Ensembl Gene ENSMUSG00000002147
Gene Name signal transducer and activator of transcription 6
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.741) question?
Stock # IGL01097
Quality Score
Status
Chromosome 10
Chromosomal Location 127478855-127496826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127490801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 407 (S407P)
Ref Sequence ENSEMBL: ENSMUSP00000089708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092074] [ENSMUST00000120279]
AlphaFold P52633
Predicted Effect probably damaging
Transcript: ENSMUST00000092074
AA Change: S407P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: S407P

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
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,486,505 (GRCm39) A75V probably damaging Het
Bud23 G A 5: 135,089,935 (GRCm39) A86V probably damaging Het
Dnajc5 T C 2: 181,189,149 (GRCm39) Y42H probably benign Het
Fchsd1 T C 18: 38,100,810 (GRCm39) probably null Het
Fnbp4 C A 2: 90,606,694 (GRCm39) A835D possibly damaging Het
Gm57859 T C 11: 113,583,296 (GRCm39) I541T probably benign Het
Grin2d A T 7: 45,502,716 (GRCm39) N718K probably damaging Het
Gsdma3 A G 11: 98,528,398 (GRCm39) K357E probably damaging Het
Impg2 T A 16: 56,081,010 (GRCm39) probably null Het
Lrrtm2 A T 18: 35,345,994 (GRCm39) I436N probably damaging Het
Mterf2 T A 10: 84,955,677 (GRCm39) I316L probably damaging Het
Nav2 G A 7: 49,220,942 (GRCm39) A1710T probably damaging Het
Nrros A G 16: 31,963,003 (GRCm39) V338A possibly damaging Het
Or2f2 T G 6: 42,767,077 (GRCm39) Y35D probably damaging Het
Or52a20 G T 7: 103,366,328 (GRCm39) V176F probably benign Het
Pappa2 T C 1: 158,684,718 (GRCm39) Y807C probably damaging Het
Slc44a4 T C 17: 35,140,545 (GRCm39) L246P probably damaging Het
Ttpal T C 2: 163,449,240 (GRCm39) Y32H probably damaging Het
Zfp523 A G 17: 28,420,023 (GRCm39) K223E possibly damaging Het
Other mutations in Stat6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21