Incidental Mutation 'R9419:Stat3'
ID 712240
Institutional Source Beutler Lab
Gene Symbol Stat3
Ensembl Gene ENSMUSG00000004040
Gene Name signal transducer and activator of transcription 3
Synonyms 1110034C02Rik, Aprf
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9419 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100777632-100830447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100784738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 576 (I576T)
Ref Sequence ENSEMBL: ENSMUSP00000120152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092671] [ENSMUST00000103114] [ENSMUST00000127638] [ENSMUST00000138438]
AlphaFold P42227
Predicted Effect probably benign
Transcript: ENSMUST00000092671
AA Change: I576T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040
AA Change: I576T

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 probably benign
Transcript: ENSMUST00000103114
AA Change: I576T

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040
AA Change: I576T

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 probably benign
Transcript: ENSMUST00000127638
AA Change: I576T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040
AA Change: I576T

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 probably benign
Transcript: ENSMUST00000138438
AA Change: I550T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040
AA Change: I550T

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
Meta Mutation Damage Score 0.4703 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,682,685 (GRCm39) T30A unknown Het
Abca12 A G 1: 71,342,649 (GRCm39) Y944H possibly damaging Het
Adgrv1 T C 13: 81,656,887 (GRCm39) N2869S probably benign Het
Ank1 C A 8: 23,574,825 (GRCm39) Q140K probably damaging Het
Aspm T A 1: 139,384,923 (GRCm39) M189K probably benign Het
Atp2b1 G T 10: 98,837,178 (GRCm39) R539L possibly damaging Het
Camsap1 A G 2: 25,845,304 (GRCm39) S152P Het
Catsperd A T 17: 56,958,821 (GRCm39) I276L probably benign Het
Cbarp A G 10: 79,967,861 (GRCm39) V460A probably damaging Het
Ccdc168 T C 1: 44,096,935 (GRCm39) I1388V probably benign Het
Cd40 A T 2: 164,904,162 (GRCm39) probably benign Het
Cdk11b A T 4: 155,724,302 (GRCm39) T307S unknown Het
Chfr C T 5: 110,317,056 (GRCm39) T643I probably damaging Het
Cnbd1 T C 4: 19,098,156 (GRCm39) Q88R probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Ghdc G T 11: 100,661,081 (GRCm39) A28D probably damaging Het
Gm5114 T C 7: 39,057,540 (GRCm39) H693R possibly damaging Het
H2-M1 G T 17: 36,981,231 (GRCm39) A268E probably damaging Het
Hsf5 A G 11: 87,528,935 (GRCm39) N557D probably benign Het
Ighg2c A G 12: 113,251,015 (GRCm39) probably benign Het
Il17ra C A 6: 120,458,255 (GRCm39) Q469K possibly damaging Het
Ipo8 T A 6: 148,686,064 (GRCm39) N809Y probably benign Het
Klra10 T A 6: 130,256,435 (GRCm39) Q73L probably damaging Het
Lamb2 T C 9: 108,356,959 (GRCm39) V3A unknown Het
Map3k9 T C 12: 81,827,341 (GRCm39) Y103C probably damaging Het
Map4 T C 9: 109,882,029 (GRCm39) S298P possibly damaging Het
Mtus2 T A 5: 148,243,451 (GRCm39) N1254K probably damaging Het
Nap1l5 T A 6: 58,883,952 (GRCm39) M1L probably benign Het
Nfxl1 G A 5: 72,716,641 (GRCm39) probably benign Het
Nmd3 T C 3: 69,643,349 (GRCm39) I227T probably benign Het
Or8c10 T G 9: 38,279,162 (GRCm39) C97G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd3 G A 11: 121,732,356 (GRCm39) M415I possibly damaging Het
Rab28 A T 5: 41,793,182 (GRCm39) S154R possibly damaging Het
Rin1 A G 19: 5,103,735 (GRCm39) E567G probably damaging Het
Rrbp1 A C 2: 143,811,436 (GRCm39) V806G probably benign Het
Sec63 T A 10: 42,679,901 (GRCm39) L326Q probably damaging Het
Serinc2 T C 4: 130,149,315 (GRCm39) T296A probably damaging Het
Skint10 G A 4: 112,572,981 (GRCm39) L272F probably damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Stag1 A G 9: 100,811,967 (GRCm39) Q815R probably benign Het
Styxl2 T C 1: 165,927,755 (GRCm39) Q619R probably damaging Het
Syne1 T C 10: 5,155,071 (GRCm39) K5623E probably benign Het
Tas1r2 T C 4: 139,387,036 (GRCm39) V165A possibly damaging Het
Tcaf3 A T 6: 42,573,716 (GRCm39) D165E probably benign Het
Tex2 G A 11: 106,457,835 (GRCm39) Q532* probably null Het
Utrn T C 10: 12,564,125 (GRCm39) E1245G probably damaging Het
Other mutations in Stat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Stat3 APN 11 100,794,484 (GRCm39) missense possibly damaging 0.77
IGL02289:Stat3 APN 11 100,796,720 (GRCm39) missense possibly damaging 0.82
IGL03183:Stat3 APN 11 100,793,582 (GRCm39) missense possibly damaging 0.71
Cunegonde UTSW 11 100,789,459 (GRCm39) missense probably damaging 0.99
monostatos UTSW 11 100,785,931 (GRCm39) missense probably damaging 1.00
Pangloss UTSW 11 100,784,496 (GRCm39) missense possibly damaging 0.92
Stamatios UTSW 11 100,784,056 (GRCm39) missense probably damaging 1.00
Voltaire UTSW 11 100,802,093 (GRCm39) missense probably damaging 0.99
R0143:Stat3 UTSW 11 100,785,982 (GRCm39) missense possibly damaging 0.89
R0395:Stat3 UTSW 11 100,780,763 (GRCm39) splice site probably benign
R0487:Stat3 UTSW 11 100,794,469 (GRCm39) missense probably damaging 1.00
R0589:Stat3 UTSW 11 100,798,909 (GRCm39) missense probably damaging 0.97
R0800:Stat3 UTSW 11 100,784,981 (GRCm39) splice site probably benign
R1393:Stat3 UTSW 11 100,779,591 (GRCm39) splice site probably null
R1927:Stat3 UTSW 11 100,785,655 (GRCm39) missense probably damaging 1.00
R3819:Stat3 UTSW 11 100,789,459 (GRCm39) missense probably damaging 0.99
R4037:Stat3 UTSW 11 100,783,951 (GRCm39) missense probably damaging 1.00
R4391:Stat3 UTSW 11 100,796,378 (GRCm39) intron probably benign
R4598:Stat3 UTSW 11 100,794,500 (GRCm39) missense probably damaging 1.00
R4637:Stat3 UTSW 11 100,784,056 (GRCm39) missense probably damaging 1.00
R5479:Stat3 UTSW 11 100,780,714 (GRCm39) unclassified probably benign
R5909:Stat3 UTSW 11 100,794,556 (GRCm39) missense probably benign 0.00
R5930:Stat3 UTSW 11 100,784,496 (GRCm39) missense possibly damaging 0.92
R5944:Stat3 UTSW 11 100,785,931 (GRCm39) missense probably damaging 1.00
R6002:Stat3 UTSW 11 100,794,569 (GRCm39) missense probably benign 0.01
R6431:Stat3 UTSW 11 100,780,400 (GRCm39) missense possibly damaging 0.79
R6816:Stat3 UTSW 11 100,802,093 (GRCm39) missense probably damaging 0.99
R8071:Stat3 UTSW 11 100,784,807 (GRCm39) missense probably benign
R8466:Stat3 UTSW 11 100,785,924 (GRCm39) missense probably damaging 1.00
R9146:Stat3 UTSW 11 100,784,492 (GRCm39) missense probably benign 0.26
R9337:Stat3 UTSW 11 100,798,815 (GRCm39) critical splice donor site probably null
R9419:Stat3 UTSW 11 100,780,357 (GRCm39) missense possibly damaging 0.90
R9564:Stat3 UTSW 11 100,784,614 (GRCm39) missense probably benign
R9682:Stat3 UTSW 11 100,785,593 (GRCm39) missense probably benign 0.01
X0033:Stat3 UTSW 11 100,783,918 (GRCm39) missense probably benign
Z1176:Stat3 UTSW 11 100,802,104 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GAAAGTGACCCCTCCTTCTTTG -3'
(R):5'- CTTTCTCCAGCAGCTGTCAG -3'

Sequencing Primer
(F):5'- TGCTGCTCTCGCTGAAGC -3'
(R):5'- GGAGCTGCCTGAGGATAGAG -3'
Posted On 2022-05-16