Incidental Mutation 'R7192:Stat1'
ID 559623
Institutional Source Beutler Lab
Gene Symbol Stat1
Ensembl Gene ENSMUSG00000026104
Gene Name signal transducer and activator of transcription 1
Synonyms 2010005J02Rik
MMRRC Submission 045333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7192 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 52158599-52201024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 52174780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 161 (K161Q)
Ref Sequence ENSEMBL: ENSMUSP00000141132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070968] [ENSMUST00000186057] [ENSMUST00000186574] [ENSMUST00000186857] [ENSMUST00000188681] [ENSMUST00000189347] [ENSMUST00000191435]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000070968
AA Change: K161Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
AA Change: K161Q

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 possibly damaging
Transcript: ENSMUST00000186057
AA Change: K161Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104
AA Change: K161Q

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: K161Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104
AA Change: K161Q

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: ENSMUST00000186857
AA Change: K161Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104
AA Change: K161Q

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: ENSMUST00000188681
SMART Domains Protein: ENSMUSP00000141144
Gene: ENSMUSG00000026104

DomainStartEndE-ValueType
STAT_int 2 122 1.9e-65 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000189347
AA Change: K161Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104
AA Change: K161Q

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: K161Q

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104
AA Change: K161Q

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 0.1100 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (72/74)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik G A 2: 30,686,188 (GRCm39) T329I probably damaging Het
Actl6a C A 3: 32,774,373 (GRCm39) P290H probably damaging Het
Akap9 T A 5: 4,055,723 (GRCm39) probably null Het
Anxa2r2 T A 13: 120,488,241 (GRCm39) K103* probably null Het
Bach1 C T 16: 87,526,551 (GRCm39) S671L possibly damaging Het
Cacna1c T C 6: 118,633,210 (GRCm39) I1099V Het
Cage1 G T 13: 38,203,220 (GRCm39) P615T probably benign Het
Caskin2 C A 11: 115,692,202 (GRCm39) R861L probably damaging Het
Cc2d2b A G 19: 40,762,881 (GRCm39) T386A unknown Het
Ccndbp1 A G 2: 120,843,424 (GRCm39) D272G probably damaging Het
Cep192 T A 18: 67,983,599 (GRCm39) V1553E probably damaging Het
Cfhr4 T A 1: 139,667,033 (GRCm39) H414L probably damaging Het
Chrm5 C T 2: 112,310,672 (GRCm39) G148D probably damaging Het
Cntnap4 T C 8: 113,608,432 (GRCm39) V1284A probably benign Het
Cpd T C 11: 76,705,667 (GRCm39) Y355C probably damaging Het
Csmd3 C T 15: 47,567,633 (GRCm39) V1266I Het
Cyfip2 T C 11: 46,145,493 (GRCm39) E609G probably benign Het
Dbr1 T C 9: 99,458,755 (GRCm39) probably null Het
Dmxl1 T C 18: 50,088,920 (GRCm39) Y2800H probably damaging Het
Dnajc6 G T 4: 101,455,000 (GRCm39) A64S probably benign Het
Dpp8 A T 9: 64,953,068 (GRCm39) N248I possibly damaging Het
Dsp A T 13: 38,379,569 (GRCm39) I2105F probably benign Het
Edem1 G A 6: 108,805,965 (GRCm39) V89M probably benign Het
Eml4 A G 17: 83,761,890 (GRCm39) Q528R probably benign Het
Epb42 A T 2: 120,854,578 (GRCm39) V669D unknown Het
Fat4 A T 3: 39,034,613 (GRCm39) Q2755L probably benign Het
Gata6 A G 18: 11,054,475 (GRCm39) K135E possibly damaging Het
Gmeb1 A T 4: 131,955,201 (GRCm39) F325I probably benign Het
H2-M10.3 C T 17: 36,677,451 (GRCm39) E276K probably damaging Het
H4c17 A T 13: 21,996,227 (GRCm39) K92* probably null Het
Ifi207 T C 1: 173,556,584 (GRCm39) N718S not run Het
Il6st A G 13: 112,631,741 (GRCm39) N427D probably benign Het
Kat7 T A 11: 95,166,656 (GRCm39) M509L probably benign Het
Klk1b4 T C 7: 43,859,045 (GRCm39) V21A probably benign Het
Malt1 T A 18: 65,570,898 (GRCm39) L78Q probably benign Het
Mertk A G 2: 128,635,028 (GRCm39) probably null Het
Myo1b A G 1: 51,796,376 (GRCm39) L1016P probably damaging Het
Neu4 A G 1: 93,952,863 (GRCm39) I411V probably benign Het
Nutm2 A T 13: 50,627,105 (GRCm39) D420V probably damaging Het
Or10j3b T A 1: 173,043,575 (GRCm39) M119K probably damaging Het
Or2w2 A G 13: 21,758,539 (GRCm39) L29P probably damaging Het
Or4k1 T C 14: 50,377,577 (GRCm39) E173G possibly damaging Het
Or5ac24 T C 16: 59,165,542 (GRCm39) D174G probably benign Het
Pcdha12 C T 18: 37,153,316 (GRCm39) R12W probably benign Het
Pdgfra G T 5: 75,343,767 (GRCm39) D763Y probably damaging Het
Pkd2 T C 5: 104,634,523 (GRCm39) V518A probably benign Het
Prb1a G T 6: 132,184,335 (GRCm39) P433T unknown Het
Ptrh2 A G 11: 86,580,835 (GRCm39) T151A probably damaging Het
Qars1 T A 9: 108,388,760 (GRCm39) N273K probably damaging Het
Robo2 T C 16: 73,717,638 (GRCm39) Y1154C probably benign Het
Rps6kc1 T A 1: 190,532,556 (GRCm39) D482V probably damaging Het
Sec16b T C 1: 157,357,013 (GRCm39) S74P probably benign Het
Serpinb2 A T 1: 107,452,306 (GRCm39) I295F probably damaging Het
Sh3pxd2b T A 11: 32,364,318 (GRCm39) D301E probably damaging Het
Sipa1l2 G A 8: 126,149,348 (GRCm39) T1637I probably benign Het
Slc27a4 A T 2: 29,695,941 (GRCm39) N159Y probably damaging Het
Stc2 T C 11: 31,319,872 (GRCm39) probably benign Het
Strip1 A G 3: 107,522,651 (GRCm39) W681R possibly damaging Het
Sv2a G A 3: 96,101,062 (GRCm39) G687S probably damaging Het
Thnsl2 C T 6: 71,116,739 (GRCm39) V138I probably benign Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tnfrsf1a T C 6: 125,338,559 (GRCm39) S235P unknown Het
Tpbg T A 9: 85,726,085 (GRCm39) L18* probably null Het
Trabd2b A T 4: 114,467,217 (GRCm39) Q482L possibly damaging Het
Trim35 T A 14: 66,534,895 (GRCm39) F126Y probably damaging Het
Ttn A T 2: 76,658,288 (GRCm39) V12364D unknown Het
Ubac2 A G 14: 122,211,128 (GRCm39) Y166C probably damaging Het
Unc13b T A 4: 43,258,519 (GRCm39) V1320D probably damaging Het
Usp34 T A 11: 23,410,571 (GRCm39) Y2693N Het
Utp20 A T 10: 88,608,321 (GRCm39) M1572K probably benign Het
Vmn1r7 C T 6: 57,001,452 (GRCm39) M269I probably benign Het
Vmn2r3 C T 3: 64,167,364 (GRCm39) G589D probably benign Het
Vrtn A T 12: 84,695,636 (GRCm39) M129L probably damaging Het
Zfp273 A T 13: 67,973,183 (GRCm39) T104S possibly damaging Het
Zfp384 T A 6: 125,010,275 (GRCm39) N390K probably damaging Het
Znfx1 A G 2: 166,884,110 (GRCm39) M933T 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
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
Predicted Primers PCR Primer
(F):5'- CCATCAGTAAGGGATGCACTAG -3'
(R):5'- TCAGTGCTTGAAACACAGTGAC -3'

Sequencing Primer
(F):5'- GGATGCACTAGGGCTAACC -3'
(R):5'- TGCTTGAAACACAGTGACCTAGGTC -3'
Posted On 2019-06-26