Incidental Mutation 'IGL02428:Stat1'
ID 293020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stat1
Ensembl Gene ENSMUSG00000026104
Gene Name signal transducer and activator of transcription 1
Synonyms 2010005J02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02428
Quality Score
Status
Chromosome 1
Chromosomal Location 52158599-52201024 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 52182125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070968] [ENSMUST00000186057] [ENSMUST00000186574] [ENSMUST00000186857] [ENSMUST00000189347] [ENSMUST00000191435]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070968
SMART Domains Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104

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 probably benign
Transcript: ENSMUST00000186057
SMART Domains Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104

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
SMART Domains Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104

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
SMART Domains Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104

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: ENSMUST00000189347
SMART Domains Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104

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
SMART Domains Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104

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
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik T C 14: 32,110,205 (GRCm39) probably benign Het
AB124611 C T 9: 21,440,221 (GRCm39) S69L possibly damaging Het
Abca6 G A 11: 110,069,618 (GRCm39) A1566V possibly damaging Het
Ahnak A G 19: 8,992,197 (GRCm39) I4494V possibly damaging Het
Ascc3 T A 10: 50,721,791 (GRCm39) Y2081* probably null Het
Cdc42bpb T C 12: 111,289,561 (GRCm39) T423A probably benign Het
Cdh6 T A 15: 13,064,516 (GRCm39) I125F possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd2 T C 4: 128,368,609 (GRCm39) L1845P possibly damaging Het
Epha4 A G 1: 77,483,385 (GRCm39) V208A possibly damaging Het
Fanci A G 7: 79,094,264 (GRCm39) probably benign Het
Fezf2 T C 14: 12,344,494 (GRCm38) E231G probably damaging Het
Flnc A G 6: 29,451,484 (GRCm39) D1566G probably damaging Het
Gm11565 A G 11: 99,805,811 (GRCm39) T68A probably benign Het
Ifng G A 10: 118,281,159 (GRCm39) R154H probably damaging Het
Il1r1 G A 1: 40,352,392 (GRCm39) E521K possibly damaging Het
Irf3 G T 7: 44,648,163 (GRCm39) L9F probably damaging Het
Jade1 T G 3: 41,568,374 (GRCm39) I814S probably benign Het
Kcnh1 G A 1: 192,019,851 (GRCm39) W365* probably null Het
Kif16b T C 2: 142,514,280 (GRCm39) T1209A possibly damaging Het
Mcur1 A T 13: 43,695,203 (GRCm39) S324T probably damaging Het
Mgat2 C A 12: 69,231,558 (GRCm39) A44E probably benign Het
Nox1 A G X: 133,008,583 (GRCm39) probably benign Het
Oga A T 19: 45,753,940 (GRCm39) W645R probably damaging Het
Or52ae7 A T 7: 103,119,590 (GRCm39) I115F probably benign Het
Or5ak23 A G 2: 85,244,537 (GRCm39) S229P probably benign Het
Pcnt A T 10: 76,265,090 (GRCm39) I340N probably damaging Het
Pde11a T C 2: 75,877,189 (GRCm39) E760G possibly damaging Het
Per3 C T 4: 151,102,674 (GRCm39) probably null Het
Rabep1 G A 11: 70,808,306 (GRCm39) A421T probably benign Het
Rint1 C T 5: 23,999,450 (GRCm39) Q80* probably null Het
Rnaset2b G A 17: 7,248,568 (GRCm39) probably null Het
Sccpdh T C 1: 179,508,070 (GRCm39) Y237H probably benign Het
Scn10a T A 9: 119,520,628 (GRCm39) T91S probably damaging Het
Spock1 A G 13: 57,592,245 (GRCm39) probably benign Het
Svil A G 18: 5,118,203 (GRCm39) E2212G probably damaging Het
Taok1 T A 11: 77,440,103 (GRCm39) R635W probably benign Het
Vmn1r39 A G 6: 66,781,946 (GRCm39) I124T probably benign Het
Vmn2r32 T C 7: 7,477,283 (GRCm39) I369M 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
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
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 2015-04-16