Incidental Mutation 'R1393:Stat3'
ID 162706
Institutional Source Beutler Lab
Gene Symbol Stat3
Ensembl Gene ENSMUSG00000004040
Gene Name signal transducer and activator of transcription 3
Synonyms 1110034C02Rik, Aprf
MMRRC Submission 039455-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1393 (G1)
Quality Score 190
Status Not validated
Chromosome 11
Chromosomal Location 100777632-100830447 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 100779591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004145] [ENSMUST00000092671] [ENSMUST00000103114] [ENSMUST00000107356] [ENSMUST00000107357] [ENSMUST00000127638] [ENSMUST00000138438] [ENSMUST00000138438]
AlphaFold P42227
Predicted Effect probably benign
Transcript: ENSMUST00000004145
SMART Domains Protein: ENSMUSP00000004145
Gene: ENSMUSG00000004043

DomainStartEndE-ValueType
STAT_int 2 126 4.42e-62 SMART
Pfam:STAT_alpha 138 330 6.9e-58 PFAM
Pfam:STAT_bind 332 583 2.4e-101 PFAM
SH2 587 688 7.64e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000092671
SMART Domains Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040

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 null
Transcript: ENSMUST00000103114
SMART Domains Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040

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: ENSMUST00000107356
SMART Domains Protein: ENSMUSP00000102979
Gene: ENSMUSG00000004043

DomainStartEndE-ValueType
STAT_int 2 126 4.42e-62 SMART
Pfam:STAT_alpha 138 330 6.9e-58 PFAM
Pfam:STAT_bind 332 583 2.4e-101 PFAM
SH2 587 688 7.64e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107357
SMART Domains Protein: ENSMUSP00000102980
Gene: ENSMUSG00000004043

DomainStartEndE-ValueType
STAT_int 2 126 4.42e-62 SMART
Pfam:STAT_alpha 141 330 4.5e-57 PFAM
Pfam:STAT_bind 332 582 1e-104 PFAM
SH2 587 688 1.55e-6 SMART
low complexity region 713 729 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000127638
SMART Domains Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040

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 null
Transcript: ENSMUST00000138438
SMART Domains Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040

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 probably null
Transcript: ENSMUST00000138438
SMART Domains Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040

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: ENSMUST00000137093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155972
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.7%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,379,180 (GRCm39) N682S probably benign Het
Acta2 G A 19: 34,219,192 (GRCm39) R337C probably damaging Het
Anxa5 G A 3: 36,507,658 (GRCm39) T194I probably damaging Het
Atf1 A G 15: 100,130,647 (GRCm39) T6A possibly damaging Het
Atg4d T A 9: 21,182,129 (GRCm39) Y317N probably damaging Het
Bcl6 A G 16: 23,796,316 (GRCm39) V37A probably damaging Het
Bsn T C 9: 107,987,716 (GRCm39) probably benign Het
Cd300ld2 G A 11: 114,903,404 (GRCm39) probably benign Het
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Chad A T 11: 94,456,140 (GRCm39) M73L probably benign Het
Copz1 A G 15: 103,203,171 (GRCm39) N95S probably benign Het
Cwf19l2 T C 9: 3,456,818 (GRCm39) V717A probably benign Het
Dock3 C T 9: 106,788,548 (GRCm39) G140R probably damaging Het
Gm14226 A T 2: 154,866,111 (GRCm39) S23C probably damaging Het
Gria2 T C 3: 80,614,405 (GRCm39) E545G probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or6c215 A G 10: 129,637,801 (GRCm39) F198L probably benign Het
Patj G A 4: 98,312,648 (GRCm39) V329I probably benign Het
Ptcd3 T A 6: 71,866,605 (GRCm39) T404S probably benign Het
Rasa1 A G 13: 85,371,641 (GRCm39) C867R probably damaging Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Rsad2 T C 12: 26,506,376 (GRCm39) S15G probably damaging Het
Serpina12 T C 12: 104,004,009 (GRCm39) I208V possibly damaging Het
Spock1 A T 13: 58,055,268 (GRCm39) L45Q probably damaging Het
Zfp810 T C 9: 22,191,810 (GRCm39) D90G probably benign 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
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 11 100,784,738 (GRCm39) missense probably benign 0.03
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'- AAGTGCCCAGATTGCCCAAAGATAG -3'
(R):5'- ATGCAGTTTCCCAGTAGCCACAG -3'

Sequencing Primer
(F):5'- TTGCCCAAAGATAGCAGAAGTAG -3'
(R):5'- TCTGAGAAATCATGGAGCTGTCC -3'
Posted On 2014-03-17