Incidental Mutation 'R1769:Pias1'
ID 194704
Institutional Source Beutler Lab
Gene Symbol Pias1
Ensembl Gene ENSMUSG00000032405
Gene Name protein inhibitor of activated STAT 1
Synonyms 2900068C24Rik, Ddxbp1, GBP
MMRRC Submission 039800-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R1769 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 62785648-62888161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62859460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 16 (V16A)
Ref Sequence ENSEMBL: ENSMUSP00000150834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098651] [ENSMUST00000214830] [ENSMUST00000216209]
AlphaFold O88907
Predicted Effect probably damaging
Transcript: ENSMUST00000098651
AA Change: V16A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: V16A

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 damaging
Transcript: ENSMUST00000214830
AA Change: V16A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215455
Predicted Effect probably damaging
Transcript: ENSMUST00000216209
AA Change: V7A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.5460 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (91/91)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,644,519 (GRCm39) I135V probably benign Het
Abca1 T A 4: 53,074,325 (GRCm39) K1119N probably damaging Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcc9 T C 6: 142,573,194 (GRCm39) probably benign Het
Akap3 A G 6: 126,842,809 (GRCm39) E476G possibly damaging Het
Aldh3b1 A G 19: 3,968,740 (GRCm39) F271S probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ascc3 T C 10: 50,576,586 (GRCm39) V847A probably damaging Het
Best3 A G 10: 116,859,883 (GRCm39) N381S probably benign Het
Blm A T 7: 80,163,118 (GRCm39) S78T probably benign Het
Bmpr2 T A 1: 59,907,520 (GRCm39) L871Q probably damaging Het
Car13 T A 3: 14,715,795 (GRCm39) H104Q probably benign Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Ccnb1ip1 T C 14: 51,029,568 (GRCm39) M165V probably benign Het
Cd4 A T 6: 124,843,618 (GRCm39) M431K possibly damaging Het
Cdh20 C T 1: 109,980,606 (GRCm39) T178I probably damaging Het
Ceacam3 C T 7: 16,892,301 (GRCm39) T348I probably damaging Het
Cfap54 C T 10: 92,740,125 (GRCm39) probably null Het
Clcn6 A T 4: 148,098,758 (GRCm39) probably null Het
Csf3 A G 11: 98,593,246 (GRCm39) Y121C probably damaging Het
Csmd3 C T 15: 47,567,505 (GRCm39) probably benign Het
Cyp2c69 A G 19: 39,864,815 (GRCm39) I221T probably benign Het
Dgcr2 T C 16: 17,675,115 (GRCm39) probably benign Het
Dhcr7 T C 7: 143,401,250 (GRCm39) F474S probably damaging Het
Dnah1 T C 14: 31,032,839 (GRCm39) I399V probably null Het
Efcab14 T A 4: 115,610,188 (GRCm39) L183Q probably damaging Het
Evx2 A G 2: 74,489,501 (GRCm39) V88A probably benign Het
Exph5 A G 9: 53,285,109 (GRCm39) N730S probably benign Het
Farsb T A 1: 78,443,620 (GRCm39) K196I probably benign Het
Fbln7 C T 2: 128,735,682 (GRCm39) probably benign Het
Fhdc1 A G 3: 84,356,085 (GRCm39) F453S probably damaging Het
Gast T A 11: 100,227,684 (GRCm39) W89R probably damaging Het
Gata2 A G 6: 88,182,237 (GRCm39) S402G probably benign Het
Gin1 T A 1: 97,720,162 (GRCm39) S386T probably benign Het
Golgb1 A G 16: 36,736,363 (GRCm39) E1870G probably damaging Het
Hivep3 T A 4: 119,954,768 (GRCm39) V1028E possibly damaging Het
Ifi203 G A 1: 173,756,326 (GRCm39) R486* probably null Het
Ifi209 G A 1: 173,468,728 (GRCm39) S186N probably benign Het
Ifih1 C T 2: 62,436,738 (GRCm39) A562T probably damaging Het
Itch T C 2: 155,014,481 (GRCm39) L106S probably damaging Het
Itga4 T A 2: 79,146,050 (GRCm39) probably null Het
Kdm4c A G 4: 74,199,234 (GRCm39) S141G possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klra3 T C 6: 130,307,226 (GRCm39) probably null Het
Lama2 A T 10: 27,084,402 (GRCm39) S923T probably damaging Het
Lama2 G C 10: 27,084,403 (GRCm39) F922L probably benign Het
Llgl1 G A 11: 60,597,873 (GRCm39) V331M probably damaging Het
Lrrc30 T C 17: 67,938,676 (GRCm39) *301W probably null Het
Map1lc3b C T 8: 122,320,226 (GRCm39) probably benign Het
Mbd2 A G 18: 70,749,690 (GRCm39) I302V probably benign Het
Med27 A G 2: 29,390,307 (GRCm39) Y78C probably damaging Het
Mei1 C T 15: 81,996,771 (GRCm39) probably null Het
Mideas G A 12: 84,205,124 (GRCm39) probably benign Het
Miga1 T C 3: 151,993,191 (GRCm39) E346G probably damaging Het
Myef2 A G 2: 124,957,363 (GRCm39) S131P probably damaging Het
Myocd T C 11: 65,069,527 (GRCm39) H899R probably benign Het
Ncam1 A G 9: 49,456,556 (GRCm39) probably benign Het
Ngf T A 3: 102,427,513 (GRCm39) N87K possibly damaging Het
Nol10 T A 12: 17,466,709 (GRCm39) probably benign Het
Nrip2 A G 6: 128,385,231 (GRCm39) I221V probably benign Het
Nup205 G A 6: 35,182,366 (GRCm39) G777D probably damaging Het
Or5ac17 A G 16: 59,036,344 (GRCm39) F211L probably benign Het
Or5b96 A G 19: 12,867,047 (GRCm39) V298A probably damaging Het
Or6c1 T A 10: 129,518,081 (GRCm39) T176S probably benign Het
Or7g35 A T 9: 19,496,682 (GRCm39) Q283L probably damaging Het
Or8d6 G T 9: 39,854,251 (GRCm39) D232Y probably benign Het
Oxt A T 2: 130,418,220 (GRCm39) R31W probably damaging Het
Pde4dip A G 3: 97,603,246 (GRCm39) S2248P probably benign Het
Pkp2 T C 16: 16,080,561 (GRCm39) S616P probably damaging Het
Plch2 T C 4: 155,084,540 (GRCm39) Y379C probably damaging Het
Pnpt1 A G 11: 29,104,159 (GRCm39) N540D probably benign Het
Ptpn23 G A 9: 110,220,746 (GRCm39) H255Y possibly damaging Het
Rad21 T C 15: 51,835,703 (GRCm39) N237D probably benign Het
Ryr3 A C 2: 112,582,113 (GRCm39) probably null Het
Sgk1 C A 10: 21,873,007 (GRCm39) probably benign Het
Slc1a5 G T 7: 16,531,464 (GRCm39) A490S probably damaging Het
Slc5a8 T C 10: 88,755,326 (GRCm39) Y478H probably benign Het
Slc5a8 T A 10: 88,755,328 (GRCm39) Y478* probably null Het
Slc9a3 A T 13: 74,311,190 (GRCm39) M562L probably benign Het
Spmip4 A G 6: 50,568,801 (GRCm39) probably benign Het
Thsd7a G A 6: 12,555,714 (GRCm39) R57* probably null Het
Tiam1 T C 16: 89,657,167 (GRCm39) R690G probably damaging Het
Tmem150b A G 7: 4,727,365 (GRCm39) S47P probably damaging Het
Trim39 C T 17: 36,574,832 (GRCm39) R190Q probably damaging Het
Ttc32 A T 12: 9,085,073 (GRCm39) I98L possibly damaging Het
Vps13c A G 9: 67,873,003 (GRCm39) T3304A probably benign Het
Wdr35 A C 12: 9,062,728 (GRCm39) D638A probably damaging Het
Wwc1 G T 11: 35,752,671 (GRCm39) P797T probably benign Het
Zan T A 5: 137,462,780 (GRCm39) T800S unknown Het
Zbbx A G 3: 74,990,926 (GRCm39) probably benign Het
Zup1 T C 10: 33,811,172 (GRCm39) M291V probably 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
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
R6799:Pias1 UTSW 9 62,789,334 (GRCm39) missense probably benign 0.10
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'- ATTTTCTGAGGGAACCGCCTCCTG -3'
(R):5'- AAAGCGAGATGTGGTCCTGCATAG -3'

Sequencing Primer
(F):5'- GGAACCGCCTCCTGTAGAG -3'
(R):5'- TGGTCCTGCATAGTGTAAGC -3'
Posted On 2014-05-23