Incidental Mutation 'R5909:Stat3'
ID 460866
Institutional Source Beutler Lab
Gene Symbol Stat3
Ensembl Gene ENSMUSG00000004040
Gene Name signal transducer and activator of transcription 3
Synonyms 1110034C02Rik, Aprf
MMRRC Submission 044106-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5909 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100777632-100830447 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100794556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 251 (T251I)
Ref Sequence ENSEMBL: ENSMUSP00000121677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092671] [ENSMUST00000103114] [ENSMUST00000127638] [ENSMUST00000138438]
AlphaFold P42227
Predicted Effect probably benign
Transcript: ENSMUST00000092671
AA Change: T277I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000090342
Gene: ENSMUSG00000004040
AA Change: T277I

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: T277I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000099403
Gene: ENSMUSG00000004040
AA Change: T277I

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: T277I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120152
Gene: ENSMUSG00000004040
AA Change: T277I

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 probably benign
Transcript: ENSMUST00000138438
AA Change: T251I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000121677
Gene: ENSMUSG00000004040
AA Change: T251I

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T C 9: 30,873,224 (GRCm39) S810P probably benign Het
Adcy7 A T 8: 89,052,124 (GRCm39) I931F probably damaging Het
Alcam G T 16: 52,111,356 (GRCm39) Q248K probably benign Het
Astn1 A C 1: 158,429,507 (GRCm39) R750S probably damaging Het
Atp1a2 A T 1: 172,114,797 (GRCm39) N329K probably damaging Het
Bcl6 A G 16: 23,791,556 (GRCm39) V266A probably benign Het
Bdp1 A G 13: 100,228,794 (GRCm39) V278A probably benign Het
Ccdc162 T C 10: 41,437,111 (GRCm39) E493G probably damaging Het
Cpvl T C 6: 53,909,413 (GRCm39) Y241C probably damaging Het
Ddx55 T C 5: 124,704,913 (GRCm39) M390T probably benign Het
Ero1b A G 13: 12,594,139 (GRCm39) E102G probably benign Het
Etnk1 A G 6: 143,143,164 (GRCm39) D273G probably benign Het
Exoc3 A G 13: 74,347,643 (GRCm39) V109A probably damaging Het
F830016B08Rik T A 18: 60,433,091 (GRCm39) I58N probably damaging Het
Fancd2 T A 6: 113,538,672 (GRCm39) V589E probably benign Het
Fbll1 G A 11: 35,689,159 (GRCm39) R35C unknown Het
Fnbp1 A G 2: 30,938,211 (GRCm39) probably null Het
Glce G T 9: 61,967,426 (GRCm39) A575D probably damaging Het
Ift20 T A 11: 78,430,867 (GRCm39) M70K possibly damaging Het
Impg2 T C 16: 56,078,499 (GRCm39) V487A probably damaging Het
Isx A G 8: 75,619,426 (GRCm39) D206G probably benign Het
Jak3 A G 8: 72,136,875 (GRCm39) I684V possibly damaging Het
Kdm5d G A Y: 941,306 (GRCm39) S1169N probably benign Het
Krt35 A T 11: 99,986,639 (GRCm39) L125Q probably damaging Het
Lama4 G A 10: 38,948,855 (GRCm39) A873T probably benign Het
Lrch4 T C 5: 137,632,127 (GRCm39) S74P possibly damaging Het
Maneal A T 4: 124,750,966 (GRCm39) Y263* probably null Het
Mcat C T 15: 83,432,116 (GRCm39) A251T probably benign Het
Mup3 T G 4: 62,004,244 (GRCm39) T90P probably benign Het
Mybpc2 G A 7: 44,156,515 (GRCm39) A812V probably damaging Het
Naa15 T C 3: 51,367,485 (GRCm39) F503L probably damaging Het
Nudt8 T C 19: 4,050,727 (GRCm39) L25S possibly damaging Het
Oas1e A T 5: 120,926,972 (GRCm39) V245D probably damaging Het
Ofcc1 A G 13: 40,417,054 (GRCm39) M109T possibly damaging Het
Or4c58 A G 2: 89,674,735 (GRCm39) V194A possibly damaging Het
Or4p18 A T 2: 88,232,535 (GRCm39) F248I probably damaging Het
Phkb G T 8: 86,748,076 (GRCm39) probably null Het
Pidd1 A C 7: 141,021,183 (GRCm39) L365R probably damaging Het
Pira12 G A 7: 3,900,621 (GRCm39) T43I probably damaging Het
Pkd1l2 G A 8: 117,750,795 (GRCm39) R1739C probably benign Het
Pkdrej A T 15: 85,702,497 (GRCm39) D1146E possibly damaging Het
Pkhd1l1 G T 15: 44,390,159 (GRCm39) W1425L probably damaging Het
Plxna4 A G 6: 32,494,181 (GRCm39) L145P probably damaging Het
Plxnd1 G T 6: 115,945,649 (GRCm39) D941E probably benign Het
Prdm13 G T 4: 21,683,894 (GRCm39) Q126K unknown Het
Rbm25 T A 12: 83,728,362 (GRCm39) V837E probably damaging Het
Rcc2 T A 4: 140,444,379 (GRCm39) Y357N probably damaging Het
Siglec1 A T 2: 130,919,884 (GRCm39) N882K probably damaging Het
Sox13 A G 1: 133,311,627 (GRCm39) I535T probably benign Het
Srrm2 T C 17: 24,040,291 (GRCm39) S2408P probably benign Het
Sulf1 A T 1: 12,929,039 (GRCm39) D102V possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem145 G T 7: 25,007,618 (GRCm39) L208F possibly damaging Het
Trim17 A T 11: 58,859,506 (GRCm39) E240V probably damaging Het
Trim43b A T 9: 88,967,451 (GRCm39) I395K possibly damaging Het
Trmt61a C A 12: 111,647,292 (GRCm39) H130N probably damaging Het
Unc5b A C 10: 60,608,138 (GRCm39) L654R probably damaging Het
Vmn1r66 A T 7: 10,008,269 (GRCm39) S255T probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb10 T C 3: 9,345,109 (GRCm39) F677S probably benign Het
Zfp493 T A 13: 67,934,717 (GRCm39) C223* probably null 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
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'- AAAGGATGGCATCTCAGACG -3'
(R):5'- AGCTAGAAATCGAGTTGTCCGTC -3'

Sequencing Primer
(F):5'- ATCTCAGACGCTGTGGTGAC -3'
(R):5'- AGAAATCGAGTTGTCCGTCTCCTTC -3'
Posted On 2017-02-28