Incidental Mutation 'IGL01720:Stat3'
ID105050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stat3
Ensembl Gene ENSMUSG00000004040
Gene Namesignal transducer and activator of transcription 3
Synonyms1110034C02Rik, Aprf
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01720
Quality Score
Status
Chromosome11
Chromosomal Location100885098-100939540 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100903658 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 275 (H275R)
Ref Sequence ENSEMBL: ENSMUSP00000121677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092671] [ENSMUST00000103114] [ENSMUST00000127638] [ENSMUST00000138438]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092671
AA Change: H301R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040
AA Change: H301R

DomainStartEndE-ValueType
STAT_int 2 122 3.03e-60 SMART
Pfam:STAT_alpha 138 319 2.2e-62 PFAM
Pfam:STAT_bind 321 574 1.8e-130 PFAM
SH2 582 663 2.84e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103114
AA Change: H301R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040
AA Change: H301R

DomainStartEndE-ValueType
STAT_int 2 122 3.03e-60 SMART
Pfam:STAT_alpha 138 319 7.2e-62 PFAM
Pfam:STAT_bind 321 574 5.7e-130 PFAM
SH2 582 663 2.84e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000127638
AA Change: H301R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040
AA Change: H301R

DomainStartEndE-ValueType
STAT_int 2 122 3.03e-60 SMART
Pfam:STAT_alpha 141 319 6.8e-59 PFAM
Pfam:STAT_bind 321 573 2.5e-80 PFAM
SH2 582 663 2.84e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130686
Predicted Effect possibly damaging
Transcript: ENSMUST00000138438
AA Change: H275R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040
AA Change: H275R

DomainStartEndE-ValueType
STAT_int 2 123 5.47e-35 SMART
coiled coil region 171 195 N/A INTRINSIC
coiled coil region 243 265 N/A INTRINSIC
Pfam:STAT_bind 295 548 9.2e-131 PFAM
SH2 556 637 2.84e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156645
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the STAT protein family. 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 is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations die at embryonic day 6.5-7.5. Conditional, tissue specific mutants are variably viable and show diverse defects including obesity, diabetes, thermal dysregulation and infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apc2 T C 10: 80,314,499 S1796P probably benign Het
Asxl3 A T 18: 22,525,325 I2131F probably damaging Het
Cdc42bpa T A 1: 180,111,282 D833E probably damaging Het
Cenpc1 A G 5: 86,045,425 S202P possibly damaging Het
Cenpf T C 1: 189,651,215 Y2636C probably damaging Het
Cenpf T C 1: 189,682,386 E178G probably benign Het
Chkb C T 15: 89,427,952 probably null Het
Cldn20 A G 17: 3,533,100 T183A probably benign Het
Cpne8 C T 15: 90,501,500 V442I probably benign Het
Cx3cl1 T A 8: 94,778,073 M39K probably damaging Het
Dgkd T A 1: 87,936,765 L124Q probably damaging Het
Fam180a T C 6: 35,313,565 H161R probably benign Het
Galt C A 4: 41,757,463 R212S probably damaging Het
Gja10 T C 4: 32,601,007 D459G probably benign Het
Glb1 T C 9: 114,420,505 probably null Het
Gm13089 T A 4: 143,696,840 probably benign Het
Gm4981 A C 10: 58,236,389 M1R probably null Het
Gm5709 A T 3: 59,606,554 noncoding transcript Het
Igf2r A G 17: 12,701,313 Y1380H probably damaging Het
Jag1 C T 2: 137,087,103 G811D probably damaging Het
Lrguk T C 6: 34,043,477 F52S probably damaging Het
Lrrc15 A T 16: 30,273,320 N400K probably benign Het
Map3k12 A G 15: 102,502,186 probably benign Het
Mbnl2 C T 14: 120,325,270 T11I probably damaging Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mgat4a G A 1: 37,444,898 A497V probably damaging Het
Mrpl49 C A 19: 6,055,157 M91I possibly damaging Het
Olfr450 G A 6: 42,817,593 V41I probably benign Het
Olfr700 A T 7: 106,806,209 D84E probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Ppp1r13b T C 12: 111,858,260 T102A probably benign Het
Prodh2 A G 7: 30,511,203 D393G probably damaging Het
Pyroxd1 A G 6: 142,351,058 probably benign Het
Rad17 A T 13: 100,622,858 C554S possibly damaging Het
Rapgef5 T C 12: 117,613,435 probably benign Het
Setdb2 A G 14: 59,423,436 V86A possibly damaging Het
Slc38a2 A T 15: 96,691,211 probably benign Het
Slc9c1 A G 16: 45,555,769 Y406C probably damaging Het
Slit1 T C 19: 41,634,214 D702G probably benign Het
Susd5 T A 9: 114,063,984 N43K possibly damaging Het
Ttc3 A T 16: 94,385,369 K124N probably damaging Het
Usp36 C A 11: 118,275,002 R165L probably damaging Het
Vwf G A 6: 125,642,835 R1492Q possibly damaging Het
Wdr66 A G 5: 123,322,494 D1173G probably benign Het
Zbed6 A G 1: 133,657,526 V691A possibly damaging Het
Other mutations in Stat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02289:Stat3 APN 11 100905894 missense possibly damaging 0.82
IGL03183:Stat3 APN 11 100902756 missense possibly damaging 0.71
Cunegonde UTSW 11 100898633 missense probably damaging 0.99
monostatos UTSW 11 100895105 missense probably damaging 1.00
Pangloss UTSW 11 100893670 missense possibly damaging 0.92
Stamatios UTSW 11 100893230 missense probably damaging 1.00
Voltaire UTSW 11 100911267 missense probably damaging 0.99
R0143:Stat3 UTSW 11 100895156 missense possibly damaging 0.89
R0395:Stat3 UTSW 11 100889937 splice site probably benign
R0487:Stat3 UTSW 11 100903643 missense probably damaging 1.00
R0589:Stat3 UTSW 11 100908083 missense probably damaging 0.97
R0800:Stat3 UTSW 11 100894155 splice site probably benign
R1393:Stat3 UTSW 11 100888765 splice site probably null
R1927:Stat3 UTSW 11 100894829 missense probably damaging 1.00
R3819:Stat3 UTSW 11 100898633 missense probably damaging 0.99
R4037:Stat3 UTSW 11 100893125 missense probably damaging 1.00
R4391:Stat3 UTSW 11 100905552 intron probably benign
R4598:Stat3 UTSW 11 100903674 missense probably damaging 1.00
R4637:Stat3 UTSW 11 100893230 missense probably damaging 1.00
R5479:Stat3 UTSW 11 100889888 unclassified probably benign
R5909:Stat3 UTSW 11 100903730 missense probably benign 0.00
R5930:Stat3 UTSW 11 100893670 missense possibly damaging 0.92
R5944:Stat3 UTSW 11 100895105 missense probably damaging 1.00
R6002:Stat3 UTSW 11 100903743 missense probably benign 0.01
R6431:Stat3 UTSW 11 100889574 missense possibly damaging 0.79
R6816:Stat3 UTSW 11 100911267 missense probably damaging 0.99
R8071:Stat3 UTSW 11 100893981 missense probably benign
R8466:Stat3 UTSW 11 100895098 missense probably damaging 1.00
X0033:Stat3 UTSW 11 100893092 missense probably benign
Z1176:Stat3 UTSW 11 100911278 missense possibly damaging 0.89
Posted On2014-01-21