Incidental Mutation 'R6799:Pias1'
ID 533214
Institutional Source Beutler Lab
Gene Symbol Pias1
Ensembl Gene ENSMUSG00000032405
Gene Name protein inhibitor of activated STAT 1
Synonyms 2900068C24Rik, Ddxbp1, GBP
MMRRC Submission 044912-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R6799 (G1)
Quality Score 147.008
Status Not validated
Chromosome 9
Chromosomal Location 62785648-62888161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62789334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 624 (S624R)
Ref Sequence ENSEMBL: ENSMUSP00000096248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098651] [ENSMUST00000214830]
AlphaFold O88907
Predicted Effect probably benign
Transcript: ENSMUST00000098651
AA Change: S624R

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: S624R

DomainStartEndE-ValueType
SAP 11 45 5.3e-5 SMART
low complexity region 82 95 N/A INTRINSIC
low complexity region 103 116 N/A INTRINSIC
Pfam:PINIT 135 286 9.6e-41 PFAM
Pfam:zf-MIZ 331 380 1.4e-23 PFAM
low complexity region 465 474 N/A INTRINSIC
low complexity region 482 491 N/A INTRINSIC
low complexity region 605 621 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214830
Predicted Effect probably benign
Transcript: ENSMUST00000215501
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice display partial perinatal lethality, reduced body size, decreased susceptibility to viral infection, and increased susceptibility to bacterial infection and LPS-induced endotoxin shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A T 5: 144,981,624 (GRCm39) Y153F probably damaging Het
Abcb1b T A 5: 8,862,656 (GRCm39) Y113N probably damaging Het
Albfm1 A G 5: 90,727,474 (GRCm39) H364R probably damaging Het
Anapc1 C G 2: 128,501,657 (GRCm39) R795T probably null Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Arhgap26 A G 18: 39,232,660 (GRCm39) N96D probably damaging Het
Asxl3 G T 18: 22,598,457 (GRCm39) E191* probably null Het
Cc2d2b A G 19: 40,779,652 (GRCm39) E697G possibly damaging Het
Chaf1a A T 17: 56,354,059 (GRCm39) I110F unknown Het
Clca4b A T 3: 144,621,388 (GRCm39) probably null Het
Dagla C A 19: 10,234,214 (GRCm39) V366L probably damaging Het
Dapk1 A G 13: 60,900,049 (GRCm39) N878S probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dhx38 A G 8: 110,279,834 (GRCm39) L952P probably damaging Het
Drosha T A 15: 12,912,623 (GRCm39) Y1080* probably null Het
Dscaml1 G A 9: 45,361,881 (GRCm39) V214I probably benign Het
Dtymk A G 1: 93,726,214 (GRCm39) L15P probably benign Het
E330034G19Rik A G 14: 24,346,178 (GRCm39) M30V probably benign Het
Egfr G A 11: 16,846,952 (GRCm39) C783Y probably damaging Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw24 T A 9: 109,453,998 (GRCm39) R49S probably damaging Het
Fcsk T C 8: 111,620,050 (GRCm39) M276V probably benign Het
Gm8797 A T 3: 5,816,027 (GRCm39) T22S probably benign Het
Hao1 T C 2: 134,372,685 (GRCm39) S108G probably damaging Het
Hdac4 C A 1: 91,929,935 (GRCm39) A184S probably damaging Het
Hikeshi T A 7: 89,579,553 (GRCm39) probably benign Het
Hivep2 C T 10: 14,004,757 (GRCm39) R452C probably benign Het
Hsdl1 T C 8: 120,293,169 (GRCm39) S68G probably benign Het
Kctd20 T C 17: 29,182,351 (GRCm39) probably null Het
Klf11 T C 12: 24,705,638 (GRCm39) V364A possibly damaging Het
Kpna6 A G 4: 129,551,247 (GRCm39) L86P probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lpin1 T A 12: 16,611,045 (GRCm39) N516Y probably damaging Het
Lrp2 T C 2: 69,314,248 (GRCm39) Y2161C probably damaging Het
Lrrtm3 A T 10: 63,923,630 (GRCm39) C512* probably null Het
Mfsd1 T C 3: 67,507,314 (GRCm39) I405T probably damaging Het
Msc T G 1: 14,825,491 (GRCm39) D161A probably damaging Het
Mttp T C 3: 137,800,841 (GRCm39) I755V probably benign Het
Ncam1 T C 9: 49,419,911 (GRCm39) T803A probably damaging Het
Nlrp14 A G 7: 106,795,346 (GRCm39) I210V probably benign Het
Npat A T 9: 53,462,930 (GRCm39) H108L probably benign Het
Nt5dc1 A G 10: 34,189,703 (GRCm39) I329T possibly damaging Het
Or10v5 T A 19: 11,806,178 (GRCm39) I71F possibly damaging Het
Or51q1c T A 7: 103,648,006 (GRCm39) probably null Het
Or8b35 T C 9: 37,904,478 (GRCm39) L230P possibly damaging Het
Parm1 C T 5: 91,742,070 (GRCm39) T146I possibly damaging Het
Parp2 T C 14: 51,058,553 (GRCm39) Y528H probably damaging Het
Ppif A G 14: 25,696,488 (GRCm39) H95R probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Psg20 A G 7: 18,418,345 (GRCm39) Y141H probably benign Het
Pygm A T 19: 6,448,157 (GRCm39) Y733F probably damaging Het
Rcc1l A T 5: 134,205,552 (GRCm39) M1K probably null Het
Rfpl4b T C 10: 38,697,341 (GRCm39) K87E possibly damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Scn5a A C 9: 119,324,688 (GRCm39) I1380S possibly damaging Het
Sel1l A G 12: 91,781,742 (GRCm39) probably null Het
Slc18a1 T A 8: 69,493,633 (GRCm39) I400L probably benign Het
Slc30a3 A G 5: 31,246,958 (GRCm39) S73P probably damaging Het
Slc9a5 A T 8: 106,090,600 (GRCm39) N685I possibly damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trdmt1 A G 2: 13,520,824 (GRCm39) probably null Het
Ttyh1 G T 7: 4,136,221 (GRCm39) probably null Het
Tyms A T 5: 30,266,069 (GRCm39) D283E probably benign Het
Vmn2r110 T A 17: 20,803,798 (GRCm39) Y259F probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r88 C A 14: 51,651,426 (GRCm39) Q255K probably benign Het
Vmn2r95 C T 17: 18,659,555 (GRCm39) P100S probably damaging Het
Zfp128 A T 7: 12,624,826 (GRCm39) H398L possibly damaging Het
Other mutations in Pias1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Pias1 APN 9 62,830,578 (GRCm39) missense probably damaging 0.96
IGL01011:Pias1 APN 9 62,820,137 (GRCm39) missense probably benign 0.00
IGL02412:Pias1 APN 9 62,800,421 (GRCm39) missense probably benign 0.44
IGL02728:Pias1 APN 9 62,830,927 (GRCm39) missense possibly damaging 0.80
IGL02728:Pias1 APN 9 62,830,926 (GRCm39) missense probably damaging 1.00
piety UTSW 9 62,788,427 (GRCm39) missense
pope UTSW 9 62,859,142 (GRCm39) missense probably damaging 1.00
R0479:Pias1 UTSW 9 62,800,400 (GRCm39) splice site probably benign
R0494:Pias1 UTSW 9 62,794,593 (GRCm39) nonsense probably null
R0524:Pias1 UTSW 9 62,859,460 (GRCm39) missense probably damaging 1.00
R0558:Pias1 UTSW 9 62,789,291 (GRCm39) missense possibly damaging 0.82
R1279:Pias1 UTSW 9 62,799,427 (GRCm39) missense probably damaging 0.98
R1525:Pias1 UTSW 9 62,827,769 (GRCm39) missense probably damaging 1.00
R1769:Pias1 UTSW 9 62,859,460 (GRCm39) missense probably damaging 1.00
R2157:Pias1 UTSW 9 62,820,112 (GRCm39) missense possibly damaging 0.63
R2201:Pias1 UTSW 9 62,859,137 (GRCm39) missense possibly damaging 0.94
R4193:Pias1 UTSW 9 62,859,286 (GRCm39) missense possibly damaging 0.80
R4726:Pias1 UTSW 9 62,827,771 (GRCm39) missense probably damaging 0.96
R4880:Pias1 UTSW 9 62,820,080 (GRCm39) missense probably benign 0.32
R5107:Pias1 UTSW 9 62,789,510 (GRCm39) missense probably benign 0.11
R5574:Pias1 UTSW 9 62,827,775 (GRCm39) missense probably damaging 0.99
R5634:Pias1 UTSW 9 62,803,255 (GRCm39) missense probably benign 0.10
R5869:Pias1 UTSW 9 62,820,048 (GRCm39) missense probably benign 0.06
R6518:Pias1 UTSW 9 62,859,142 (GRCm39) missense probably damaging 1.00
R6634:Pias1 UTSW 9 62,826,706 (GRCm39) missense probably damaging 1.00
R6798:Pias1 UTSW 9 62,799,451 (GRCm39) missense probably benign
R7099:Pias1 UTSW 9 62,788,427 (GRCm39) missense
R8350:Pias1 UTSW 9 62,859,266 (GRCm39) missense probably damaging 0.97
R8361:Pias1 UTSW 9 62,826,668 (GRCm39) missense possibly damaging 0.95
R8510:Pias1 UTSW 9 62,830,919 (GRCm39) missense probably damaging 1.00
R9074:Pias1 UTSW 9 62,888,164 (GRCm39) intron probably benign
X0017:Pias1 UTSW 9 62,888,127 (GRCm39) splice site probably null
Z1177:Pias1 UTSW 9 62,820,105 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- CCACGCTTGTATACTTTTCTAAACAGG -3'
(R):5'- GGTGCATCTGATTGTAACAGAG -3'

Sequencing Primer
(F):5'- CTAAACAGGATAAGGTAAAACAGAGC -3'
(R):5'- GGTCCCTCCTAGCATTACAAC -3'
Posted On 2018-09-12