Incidental Mutation 'R0165:Stat6'
ID 24116
Institutional Source Beutler Lab
Gene Symbol Stat6
Ensembl Gene ENSMUSG00000002147
Gene Name signal transducer and activator of transcription 6
Synonyms
MMRRC Submission 038441-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.741) question?
Stock # R0165 (G1)
Quality Score 180
Status Validated
Chromosome 10
Chromosomal Location 127478855-127496826 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127493096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 576 (V576A)
Ref Sequence ENSEMBL: ENSMUSP00000089708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026469] [ENSMUST00000092074] [ENSMUST00000099157]
AlphaFold P52633
Predicted Effect probably benign
Transcript: ENSMUST00000026469
SMART Domains Protein: ENSMUSP00000026469
Gene: ENSMUSG00000025402

DomainStartEndE-ValueType
Pfam:NCD1 36 114 1.2e-44 PFAM
Pfam:NCD2 230 364 3.2e-59 PFAM
low complexity region 393 406 N/A INTRINSIC
low complexity region 431 446 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092074
AA Change: V576A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089708
Gene: ENSMUSG00000002147
AA Change: V576A

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: ENSMUST00000099157
SMART Domains Protein: ENSMUSP00000096761
Gene: ENSMUSG00000025402

DomainStartEndE-ValueType
Pfam:NCD1 34 115 4.4e-51 PFAM
Pfam:NCD2 199 366 3.6e-74 PFAM
low complexity region 393 406 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156231
Meta Mutation Damage Score 0.7735 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.2%
  • 20x: 91.4%
Validation Efficiency 96% (81/84)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,924 (GRCm39) I717T possibly damaging Het
6430571L13Rik A G 9: 107,223,383 (GRCm39) probably benign Het
Abca15 T A 7: 119,950,126 (GRCm39) probably benign Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Adgrl2 A G 3: 148,558,499 (GRCm39) probably benign Het
Agap3 A G 5: 24,684,743 (GRCm39) T544A probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Ankrd26 A G 6: 118,517,445 (GRCm39) S459P probably benign Het
Armh4 A G 14: 50,011,243 (GRCm39) S155P probably benign Het
Ascc3 T A 10: 50,718,223 (GRCm39) probably null Het
Brd1 T C 15: 88,613,980 (GRCm39) N305S probably damaging Het
Catip T A 1: 74,407,628 (GRCm39) L320Q possibly damaging Het
Cplane1 G A 15: 8,245,866 (GRCm39) V1413M probably damaging Het
Cttnbp2 G A 6: 18,435,409 (GRCm39) Q150* probably null Het
Cyp2d22 T G 15: 82,257,481 (GRCm39) N228T probably benign Het
Dapk1 T C 13: 60,909,407 (GRCm39) V1340A probably benign Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Ddhd1 G A 14: 45,833,049 (GRCm39) T849M probably damaging Het
Dnah6 A G 6: 72,998,306 (GRCm39) S3987P probably benign Het
Dst C A 1: 34,193,727 (GRCm39) probably benign Het
Epha2 T C 4: 141,049,203 (GRCm39) probably null Het
Ern2 T C 7: 121,779,002 (GRCm39) T281A probably benign Het
Extl1 A G 4: 134,085,014 (GRCm39) F652S probably damaging Het
Gckr A G 5: 31,484,292 (GRCm39) S541G possibly damaging Het
Gdap1l1 A G 2: 163,293,419 (GRCm39) probably null Het
Gm7535 T C 17: 18,131,437 (GRCm39) probably benign Het
Gmps T A 3: 63,901,375 (GRCm39) I398N probably damaging Het
Igf2r A G 17: 12,917,414 (GRCm39) V1556A probably benign Het
Il3ra T A 14: 14,350,967 (GRCm38) N283K probably benign Het
Ist1 A G 8: 110,401,998 (GRCm39) probably benign Het
Lama3 A T 18: 12,657,867 (GRCm39) I1934F probably damaging Het
Lars1 A T 18: 42,335,762 (GRCm39) M1118K possibly damaging Het
Lpin2 C T 17: 71,553,514 (GRCm39) S846L probably damaging Het
Lrrc4b C A 7: 44,111,739 (GRCm39) T537K probably damaging Het
Ltn1 G A 16: 87,202,407 (GRCm39) probably benign Het
Meiob A G 17: 25,054,135 (GRCm39) T401A probably benign Het
Mettl21e G A 1: 44,250,283 (GRCm39) T41M probably damaging Het
Miga1 C T 3: 151,996,480 (GRCm39) E323K probably damaging Het
Ndufs1 A T 1: 63,198,907 (GRCm39) probably null Het
Or5p62 T C 7: 107,771,882 (GRCm39) D23G probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parp6 T C 9: 59,540,208 (GRCm39) Y274H probably damaging Het
Prom2 A T 2: 127,381,434 (GRCm39) probably benign Het
Prune2 T A 19: 17,099,974 (GRCm39) M1826K probably benign Het
Qki T A 17: 10,457,892 (GRCm39) D159V probably damaging Het
Rab12 A T 17: 66,807,312 (GRCm39) I139N probably damaging Het
Rab25 T A 3: 88,455,362 (GRCm39) E7D probably benign Het
Rala A T 13: 18,063,174 (GRCm39) V139E probably benign Het
Ralgapa2 A G 2: 146,230,407 (GRCm39) probably benign Het
Rbl2 T A 8: 91,800,804 (GRCm39) Y89N probably damaging Het
Rho A T 6: 115,909,188 (GRCm39) I75F probably damaging Het
Slc38a4 C A 15: 96,906,830 (GRCm39) A303S probably benign Het
Slc6a15 A G 10: 103,245,670 (GRCm39) D551G probably null Het
Smyd3 T C 1: 178,871,437 (GRCm39) N314S probably benign Het
Speer4f1 T A 5: 17,684,512 (GRCm39) L180* probably null Het
Strn T C 17: 78,984,803 (GRCm39) D127G possibly damaging Het
Syne1 T C 10: 4,983,096 (GRCm39) R8610G probably benign Het
Tbc1d7 A C 13: 43,306,678 (GRCm39) probably null Het
Tcf3 C T 10: 80,248,831 (GRCm39) R548Q probably damaging Het
Tlr9 C A 9: 106,103,286 (GRCm39) A859D probably benign Het
Tmem106c T A 15: 97,866,020 (GRCm39) probably benign Het
Tmprss11c A T 5: 86,379,786 (GRCm39) probably benign Het
Tnfsf18 A G 1: 161,322,300 (GRCm39) R7G probably benign Het
Tnrc6b T A 15: 80,742,871 (GRCm39) probably null Het
Trpm7 A T 2: 126,639,433 (GRCm39) F1684I probably damaging Het
Ttbk1 C A 17: 46,789,864 (GRCm39) R133L possibly damaging Het
Ttn A G 2: 76,551,686 (GRCm39) S22962P probably damaging Het
Ube2q1 T A 3: 89,683,460 (GRCm39) L135Q probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vwce T C 19: 10,637,337 (GRCm39) probably benign Het
Wdhd1 A G 14: 47,504,525 (GRCm39) S350P probably benign Het
Zbtb21 A G 16: 97,752,604 (GRCm39) S560P 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
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
Predicted Primers PCR Primer
(F):5'- TCAAAGCCCCATGCTTGTTCCAG -3'
(R):5'- GACCCACTTGTCTCCATTGCCATAG -3'

Sequencing Primer
(F):5'- CACTTCAGGAGATCCTGCTG -3'
(R):5'- CTCCATTGCCATAGGAGTTGAAG -3'
Posted On 2013-04-16