Incidental Mutation 'R5600:Stat1'
ID 438969
Institutional Source Beutler Lab
Gene Symbol Stat1
Ensembl Gene ENSMUSG00000026104
Gene Name signal transducer and activator of transcription 1
Synonyms 2010005J02Rik
MMRRC Submission 043152-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5600 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 52158599-52201024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 52188101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 496 (S496T)
Ref Sequence ENSEMBL: ENSMUSP00000139746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070968] [ENSMUST00000186057] [ENSMUST00000186574] [ENSMUST00000186857] [ENSMUST00000189347] [ENSMUST00000191435] [ENSMUST00000189244]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070968
AA Change: S496T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066743
Gene: ENSMUSG00000026104
AA Change: S496T

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
AA Change: S502T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141132
Gene: ENSMUSG00000026104
AA Change: S502T

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: S496T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140518
Gene: ENSMUSG00000026104
AA Change: S496T

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: S496T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000140875
Gene: ENSMUSG00000026104
AA Change: S496T

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 noncoding transcript
Transcript: ENSMUST00000189075
Predicted Effect probably benign
Transcript: ENSMUST00000189347
AA Change: S496T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000141125
Gene: ENSMUSG00000026104
AA Change: S496T

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: S496T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139746
Gene: ENSMUSG00000026104
AA Change: S496T

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: ENSMUST00000189336
Predicted Effect probably benign
Transcript: ENSMUST00000189244
SMART Domains Protein: ENSMUSP00000140482
Gene: ENSMUSG00000026104

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.0%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b A C 15: 77,519,288 (GRCm39) M264R probably damaging Het
Asprv1 G T 6: 86,606,044 (GRCm39) E297* probably null Het
Atp6v1c1 T C 15: 38,687,107 (GRCm39) V234A probably benign Het
Ccp110 G A 7: 118,328,948 (GRCm39) probably null Het
Cfap251 T C 5: 123,426,761 (GRCm39) V383A possibly damaging Het
Fgfrl1 T C 5: 108,853,168 (GRCm39) C173R probably damaging Het
Gm5431 G A 11: 48,785,583 (GRCm39) T264M possibly damaging Het
Golga1 T C 2: 38,910,111 (GRCm39) E637G probably damaging Het
Gpr158 A G 2: 21,832,046 (GRCm39) T1049A probably benign Het
Hcn4 T A 9: 58,766,576 (GRCm39) probably null Het
Krt86 G A 15: 101,374,386 (GRCm39) V260I probably benign Het
Ktn1 A T 14: 47,927,490 (GRCm39) Q548L probably damaging Het
Lingo4 A T 3: 94,309,220 (GRCm39) I53F probably benign Het
Lrrk1 A C 7: 65,956,963 (GRCm39) I336S probably benign Het
Magel2 G T 7: 62,029,514 (GRCm39) G806V unknown Het
Mrc2 T A 11: 105,224,492 (GRCm39) S501T probably damaging Het
Mrps18a T A 17: 46,436,575 (GRCm39) L128* probably null Het
Mtor G T 4: 148,575,927 (GRCm39) L1360F probably damaging Het
Mtpap A G 18: 4,379,674 (GRCm39) E88G probably damaging Het
Myo5c A G 9: 75,196,436 (GRCm39) K1294R probably benign Het
Or10al2 G A 17: 37,983,176 (GRCm39) M87I possibly damaging Het
Pik3c3 G A 18: 30,444,346 (GRCm39) V520M probably damaging Het
Pptc7 T A 5: 122,458,918 (GRCm39) V305E probably damaging Het
Ptgfrn T C 3: 100,963,566 (GRCm39) D682G probably damaging Het
Rfx6 A T 10: 51,599,157 (GRCm39) Q538L probably damaging Het
Sbk1 G A 7: 125,891,415 (GRCm39) R283H probably damaging Het
Sfswap T C 5: 129,590,222 (GRCm39) F240L probably damaging Het
Siglec1 T A 2: 130,927,503 (GRCm39) H101L probably benign Het
Smg1 A G 7: 117,767,107 (GRCm39) probably benign Het
Spink5 A G 18: 44,151,778 (GRCm39) T986A probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tenm2 C T 11: 36,054,541 (GRCm39) probably null Het
Tiam1 G T 16: 89,662,253 (GRCm39) R622S probably damaging Het
Vmn2r109 C A 17: 20,761,189 (GRCm39) D723Y probably damaging Het
Vmn2r70 G T 7: 85,212,935 (GRCm39) Q491K probably benign Het
Wnk1 A C 6: 119,926,319 (GRCm39) S1297R probably damaging Het
Zan C T 5: 137,385,233 (GRCm39) V5067I unknown Het
Zfp108 A G 7: 23,960,011 (GRCm39) S201G 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
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
Predicted Primers PCR Primer
(F):5'- ACCTGCTAATTTCTGAGGATTCTC -3'
(R):5'- CTCACTTGGCTACAACCAGCTG -3'

Sequencing Primer
(F):5'- GGATTCTCATCCCCGGCTGTG -3'
(R):5'- CCAGCTGTAGTTAAAAACCAACTG -3'
Posted On 2016-10-26