Incidental Mutation 'R9337:Stat1'
ID 707208
Institutional Source Beutler Lab
Gene Symbol Stat1
Ensembl Gene ENSMUSG00000026104
Gene Name signal transducer and activator of transcription 1
Synonyms 2010005J02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9337 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 52158599-52201024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 52191429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 595 (A595S)
Ref Sequence ENSEMBL: ENSMUSP00000141132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070968] [ENSMUST00000186057] [ENSMUST00000186574] [ENSMUST00000186857] [ENSMUST00000189244] [ENSMUST00000189347] [ENSMUST00000191435]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070968
AA Change: A589S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
AA Change: A589S

DomainStartEndE-ValueType
STAT_int 2 122 2.5e-61 SMART
Pfam:STAT_alpha 139 315 1.4e-56 PFAM
Pfam:STAT_bind 317 566 4.2e-82 PFAM
SH2 571 687 1.59e-1 SMART
Pfam:STAT1_TAZ2bind 715 739 2.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186057
AA Change: A595S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104
AA Change: A595S

DomainStartEndE-ValueType
STAT_int 2 122 2.5e-61 SMART
Pfam:STAT_alpha 136 315 3.4e-65 PFAM
Pfam:STAT_bind 317 573 3.9e-118 PFAM
SH2 577 693 1.59e-1 SMART
Pfam:STAT1_TAZ2bind 721 745 2.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186574
AA Change: A589S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104
AA Change: A589S

DomainStartEndE-ValueType
STAT_int 2 122 1.9e-65 SMART
Pfam:STAT_alpha 136 315 3.3e-62 PFAM
Pfam:STAT_bind 317 567 1.1e-118 PFAM
SH2 571 687 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186857
AA Change: A589S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104
AA Change: A589S

DomainStartEndE-ValueType
STAT_int 2 122 2.5e-61 SMART
Pfam:STAT_alpha 136 315 1.2e-64 PFAM
Pfam:STAT_bind 317 567 4.4e-121 PFAM
SH2 571 687 1.59e-1 SMART
Pfam:STAT1_TAZ2bind 715 739 3.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189244
AA Change: A83S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140482
Gene: ENSMUSG00000026104
AA Change: A83S

DomainStartEndE-ValueType
Pfam:STAT_bind 13 61 2.6e-14 PFAM
SH2 65 181 1.59e-1 SMART
Pfam:STAT1_TAZ2bind 209 233 7.8e-16 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000189347
AA Change: A589S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104
AA Change: A589S

DomainStartEndE-ValueType
STAT_int 2 122 1.9e-65 SMART
Pfam:STAT_alpha 136 315 3.3e-62 PFAM
Pfam:STAT_bind 317 567 1.1e-118 PFAM
SH2 571 687 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191435
AA Change: A589S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104
AA Change: A589S

DomainStartEndE-ValueType
STAT_int 2 122 1.9e-65 SMART
Pfam:STAT_alpha 136 315 3.3e-62 PFAM
Pfam:STAT_bind 317 567 1.1e-118 PFAM
SH2 571 687 1e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (65/65)
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 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 can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. Two alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are largely unresponsive to interferon, fail to thrive, are susceptible to viral diseases and cutaneous leishmaniasis, and show excess osteoclastogenesis leading to increased bone mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adad1 T C 3: 37,139,247 (GRCm39) V439A possibly damaging Het
Ahnak G A 19: 8,989,824 (GRCm39) probably benign Het
Arhgef10l G A 4: 140,338,624 (GRCm39) T46I probably damaging Het
C3ar1 A G 6: 122,827,278 (GRCm39) V313A probably benign Het
Capn13 T A 17: 73,633,467 (GRCm39) probably null Het
Ccdc30 T A 4: 119,190,920 (GRCm39) probably null Het
Ccdc7a T C 8: 129,616,319 (GRCm39) Q928R probably benign Het
Cept1 A G 3: 106,412,575 (GRCm39) L299S possibly damaging Het
Clba1 T C 12: 112,775,898 (GRCm39) L218P probably damaging Het
Cnot1 T C 8: 96,468,448 (GRCm39) I1460M probably damaging Het
Col4a2 T C 8: 11,479,346 (GRCm39) L743P probably benign Het
Cop1 T C 1: 159,072,221 (GRCm39) V179A probably benign Het
Cpvl A G 6: 53,909,479 (GRCm39) I219T probably damaging Het
Cyc1 T C 15: 76,228,506 (GRCm39) V45A probably benign Het
Dnhd1 T A 7: 105,369,806 (GRCm39) N4410K probably benign Het
Dok4 T A 8: 95,593,469 (GRCm39) T106S probably benign Het
Exosc10 T C 4: 148,665,588 (GRCm39) F842L probably damaging Het
Fam24b T A 7: 130,927,949 (GRCm39) Y80F probably benign Het
Fbn2 G A 18: 58,342,723 (GRCm39) A52V probably benign Het
Gal3st3 A T 19: 5,356,868 (GRCm39) N81I probably damaging Het
Gm13283 T A 4: 88,679,036 (GRCm39) V9E possibly damaging Het
Gm17026 A G 14: 42,080,873 (GRCm39) S58P Het
Grm8 A T 6: 27,761,214 (GRCm39) S337T probably benign Het
Hdac5 G A 11: 102,096,178 (GRCm39) P332S probably damaging Het
Hr A T 14: 70,797,324 (GRCm39) E519V probably benign Het
Hspbap1 A G 16: 35,645,395 (GRCm39) H360R probably benign Het
Iqgap3 T G 3: 88,023,425 (GRCm39) probably null Het
Krtap5-3 T A 7: 141,756,267 (GRCm39) H175Q unknown Het
Lrrn4 A T 2: 132,712,552 (GRCm39) S424T probably benign Het
Lsm10 C A 4: 125,991,660 (GRCm39) H5Q probably damaging Het
Megf10 A T 18: 57,394,252 (GRCm39) K459* probably null Het
Myo15b A C 11: 115,749,861 (GRCm39) K210N Het
Or12e7 T A 2: 87,287,527 (GRCm39) I6N probably benign Het
Or8k38 T C 2: 86,488,476 (GRCm39) T109A probably benign Het
Park7 A T 4: 150,991,553 (GRCm39) C46S probably damaging Het
Pik3cb A G 9: 98,943,844 (GRCm39) F653S probably damaging Het
Plekha1 T A 7: 130,511,348 (GRCm39) C311S possibly damaging Het
Pprc1 T A 19: 46,052,198 (GRCm39) M576K unknown Het
Prelid3b G A 2: 174,310,161 (GRCm39) T74M probably benign Het
Prg4 T C 1: 150,327,116 (GRCm39) Y311C probably damaging Het
Prom2 A C 2: 127,371,094 (GRCm39) V801G probably damaging Het
Psmd9 T A 5: 123,386,387 (GRCm39) V44D probably damaging Het
Ptpn3 C G 4: 57,218,521 (GRCm39) L647F probably damaging Het
Ptprj T C 2: 90,270,238 (GRCm39) D1286G probably damaging Het
Rcc2 T C 4: 140,445,689 (GRCm39) I449T probably damaging Het
Rev3l A T 10: 39,698,850 (GRCm39) S1116C probably benign Het
Rnf212 A T 5: 108,922,755 (GRCm39) S32T possibly damaging Het
Rnf40 T A 7: 127,188,172 (GRCm39) S2T probably benign Het
Rrp8 T C 7: 105,383,384 (GRCm39) D294G probably damaging Het
Rtf2 A T 2: 172,308,205 (GRCm39) K201N probably damaging Het
Runx3 A G 4: 134,890,574 (GRCm39) T173A probably damaging Het
Sardh T C 2: 27,086,678 (GRCm39) I827M probably benign Het
Sec22b T C 3: 97,828,494 (GRCm39) Y186H probably benign Het
Serpina5 C T 12: 104,071,542 (GRCm39) T383I possibly damaging Het
Slc12a2 A G 18: 58,063,238 (GRCm39) D906G probably damaging Het
Socs1 T C 16: 10,602,578 (GRCm39) D53G possibly damaging Het
Stat3 A T 11: 100,798,815 (GRCm39) probably null Het
Styxl1 T C 5: 135,794,592 (GRCm39) S82G probably benign Het
Taf1b T A 12: 24,597,121 (GRCm39) D353E possibly damaging Het
Tbce T C 13: 14,194,398 (GRCm39) K87R probably benign Het
Thada T C 17: 84,749,205 (GRCm39) M589V probably benign Het
Them5 A G 3: 94,254,048 (GRCm39) M257V unknown Het
Tln1 A T 4: 43,532,927 (GRCm39) I2425N probably damaging Het
Tuba8 A G 6: 121,202,823 (GRCm39) S379G probably damaging Het
Vrk1 T C 12: 106,024,957 (GRCm39) probably null Het
Zbtb34 T C 2: 33,301,716 (GRCm39) Y275C probably damaging Het
Zcwpw1 T C 5: 137,799,274 (GRCm39) C214R probably benign Het
Zeb2 A G 2: 44,912,912 (GRCm39) V137A probably benign Het
Other mutations in Stat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Stat1 APN 1 52,161,754 (GRCm39) start codon destroyed probably null 0.50
IGL01111:Stat1 APN 1 52,182,120 (GRCm39) critical splice donor site probably null
IGL01451:Stat1 APN 1 52,178,502 (GRCm39) missense probably damaging 1.00
IGL01469:Stat1 APN 1 52,186,529 (GRCm39) missense possibly damaging 0.87
IGL01758:Stat1 APN 1 52,176,080 (GRCm39) missense probably damaging 1.00
IGL01818:Stat1 APN 1 52,190,437 (GRCm39) missense probably damaging 1.00
IGL01913:Stat1 APN 1 52,165,716 (GRCm39) missense probably benign 0.08
IGL01914:Stat1 APN 1 52,165,716 (GRCm39) missense probably benign 0.08
IGL02304:Stat1 APN 1 52,171,703 (GRCm39) missense probably benign
IGL02428:Stat1 APN 1 52,182,125 (GRCm39) splice site probably benign
Accretion UTSW 1 52,174,780 (GRCm39) missense possibly damaging 0.65
Aspect UTSW 1 52,190,408 (GRCm39) missense probably benign 0.01
baroque UTSW 1 52,183,368 (GRCm39) missense probably damaging 1.00
Compounding UTSW 1 52,190,440 (GRCm39) missense probably benign 0.17
domino UTSW 1 52,179,747 (GRCm39) missense probably damaging 1.00
h_moll UTSW 1 52,178,353 (GRCm39) nonsense probably null
kun_ming UTSW 1 52,176,575 (GRCm39) missense possibly damaging 0.52
kuomintang UTSW 1 52,190,404 (GRCm39) missense possibly damaging 0.51
poison UTSW 1 52,190,384 (GRCm39) splice site probably benign
roccoco UTSW 1 52,162,368 (GRCm39) missense probably damaging 1.00
rollo UTSW 1 52,193,082 (GRCm39) nonsense probably null
Sedimentary UTSW 1 52,178,388 (GRCm39) missense probably damaging 1.00
special UTSW 1 52,178,423 (GRCm39) missense probably damaging 1.00
vandegraff UTSW 1 52,194,178 (GRCm39) missense probably benign 0.01
R0022:Stat1 UTSW 1 52,179,789 (GRCm39) missense probably damaging 1.00
R0022:Stat1 UTSW 1 52,179,789 (GRCm39) missense probably damaging 1.00
R0039:Stat1 UTSW 1 52,179,819 (GRCm39) missense probably damaging 0.99
R0458:Stat1 UTSW 1 52,188,211 (GRCm39) splice site probably benign
R1313:Stat1 UTSW 1 52,195,165 (GRCm39) missense probably damaging 0.98
R1313:Stat1 UTSW 1 52,195,165 (GRCm39) missense probably damaging 0.98
R2998:Stat1 UTSW 1 52,190,408 (GRCm39) missense probably benign 0.01
R4464:Stat1 UTSW 1 52,176,575 (GRCm39) missense possibly damaging 0.52
R4709:Stat1 UTSW 1 52,165,680 (GRCm39) missense probably damaging 0.97
R4934:Stat1 UTSW 1 52,193,082 (GRCm39) nonsense probably null
R5038:Stat1 UTSW 1 52,162,368 (GRCm39) missense probably damaging 1.00
R5075:Stat1 UTSW 1 52,161,871 (GRCm39) missense possibly damaging 0.73
R5223:Stat1 UTSW 1 52,183,401 (GRCm39) missense probably damaging 1.00
R5600:Stat1 UTSW 1 52,188,101 (GRCm39) missense probably benign 0.06
R5866:Stat1 UTSW 1 52,178,423 (GRCm39) missense probably damaging 1.00
R7105:Stat1 UTSW 1 52,190,408 (GRCm39) missense probably benign 0.01
R7192:Stat1 UTSW 1 52,174,780 (GRCm39) missense possibly damaging 0.65
R7284:Stat1 UTSW 1 52,188,081 (GRCm39) missense probably benign 0.01
R7309:Stat1 UTSW 1 52,165,780 (GRCm39) splice site probably null
R7491:Stat1 UTSW 1 52,191,530 (GRCm39) missense probably benign 0.31
R7680:Stat1 UTSW 1 52,183,368 (GRCm39) missense probably damaging 1.00
R7825:Stat1 UTSW 1 52,190,467 (GRCm39) missense probably damaging 0.98
R7915:Stat1 UTSW 1 52,190,440 (GRCm39) missense probably benign 0.17
R8245:Stat1 UTSW 1 52,194,178 (GRCm39) missense probably benign 0.01
R8309:Stat1 UTSW 1 52,190,404 (GRCm39) missense possibly damaging 0.51
R8728:Stat1 UTSW 1 52,178,353 (GRCm39) nonsense probably null
R8952:Stat1 UTSW 1 52,187,042 (GRCm39) missense probably benign 0.01
R9054:Stat1 UTSW 1 52,182,086 (GRCm39) missense probably damaging 1.00
R9156:Stat1 UTSW 1 52,178,388 (GRCm39) missense probably damaging 1.00
R9209:Stat1 UTSW 1 52,184,337 (GRCm39) missense probably benign
R9252:Stat1 UTSW 1 52,174,831 (GRCm39) missense probably benign 0.03
R9388:Stat1 UTSW 1 52,193,037 (GRCm39) missense possibly damaging 0.81
R9530:Stat1 UTSW 1 52,187,160 (GRCm39) critical splice donor site probably null
R9648:Stat1 UTSW 1 52,165,695 (GRCm39) missense probably damaging 0.98
RF036:Stat1 UTSW 1 52,191,419 (GRCm39) missense probably benign
RF060:Stat1 UTSW 1 52,191,419 (GRCm39) missense probably benign
X0027:Stat1 UTSW 1 52,178,430 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCGGTGTTCATCCTGATTC -3'
(R):5'- ATTCCAACGGGCTGATCCTC -3'

Sequencing Primer
(F):5'- GAGATGCTCCCTTTAAGTGCCAG -3'
(R):5'- CTCAGCGACAGATTACAGACATGTG -3'
Posted On 2022-04-18