Incidental Mutation 'R0039:Stat1'
ID 15767
Institutional Source Beutler Lab
Gene Symbol Stat1
Ensembl Gene ENSMUSG00000026104
Gene Name signal transducer and activator of transcription 1
Synonyms 2010005J02Rik
MMRRC Submission 038333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0039 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 52158599-52201024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52179819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 343 (V343D)
Ref Sequence ENSEMBL: ENSMUSP00000140875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070968] [ENSMUST00000186057] [ENSMUST00000186574] [ENSMUST00000186857] [ENSMUST00000189347] [ENSMUST00000191435]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000070968
AA Change: V343D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
AA Change: V343D

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 noncoding transcript
Transcript: ENSMUST00000185516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185743
Predicted Effect probably damaging
Transcript: ENSMUST00000186057
AA Change: V343D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104
AA Change: V343D

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 possibly damaging
Transcript: ENSMUST00000186574
AA Change: V343D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104
AA Change: V343D

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 damaging
Transcript: ENSMUST00000186857
AA Change: V343D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104
AA Change: V343D

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 possibly damaging
Transcript: ENSMUST00000189347
AA Change: V343D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104
AA Change: V343D

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 possibly damaging
Transcript: ENSMUST00000191435
AA Change: V343D

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104
AA Change: V343D

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 82.5%
  • 3x: 74.4%
  • 10x: 54.3%
  • 20x: 37.4%
Validation Efficiency 95% (60/63)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C T 12: 52,565,518 (GRCm39) Q830* probably null Het
Atic A T 1: 71,617,009 (GRCm39) E523V possibly damaging Het
Cass4 T A 2: 172,268,900 (GRCm39) F329L probably damaging Het
Cdk17 A T 10: 93,062,640 (GRCm39) probably benign Het
Cep120 C T 18: 53,819,033 (GRCm39) R886H probably benign Het
Cep170 A C 1: 176,610,061 (GRCm39) probably null Het
Dsg3 A G 18: 20,654,541 (GRCm39) K82E probably benign Het
Dtd1 C T 2: 144,588,896 (GRCm39) R185W probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Hectd1 T G 12: 51,800,608 (GRCm39) E2070A possibly damaging Het
Ifit1bl2 T A 19: 34,596,846 (GRCm39) K257* probably null Het
Ighv8-5 T A 12: 115,031,207 (GRCm39) T111S possibly damaging Het
Lmtk2 G T 5: 144,103,205 (GRCm39) L321F probably damaging Het
Mcoln2 C T 3: 145,889,316 (GRCm39) T374M probably damaging Het
Mfn1 T C 3: 32,592,416 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mroh8 T C 2: 157,071,849 (GRCm39) H552R possibly damaging Het
Myh2 T A 11: 67,069,103 (GRCm39) L304Q probably damaging Het
Prune1 T A 3: 95,169,678 (GRCm39) T175S probably damaging Het
Rdh10 C T 1: 16,199,508 (GRCm39) T238I probably damaging Het
Rlf T A 4: 121,004,039 (GRCm39) H1647L possibly damaging Het
Rreb1 C T 13: 38,083,613 (GRCm39) T92M probably damaging Het
Scn9a A T 2: 66,392,788 (GRCm39) M268K probably damaging Het
Sec16a A G 2: 26,313,926 (GRCm39) V1893A probably benign Het
Snd1 T A 6: 28,745,209 (GRCm39) L518Q probably damaging Het
Topors A G 4: 40,262,772 (GRCm39) S171P probably damaging Het
Tubd1 C T 11: 86,440,221 (GRCm39) Q82* probably null Het
Unc13c A G 9: 73,576,847 (GRCm39) probably benign Het
Wdr43 G T 17: 71,960,487 (GRCm39) G590* probably null 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
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
R9337:Stat1 UTSW 1 52,191,429 (GRCm39) missense probably benign 0.00
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
Posted On 2012-12-21