Incidental Mutation 'R4880:Pias1'
ID 375226
Institutional Source Beutler Lab
Gene Symbol Pias1
Ensembl Gene ENSMUSG00000032405
Gene Name protein inhibitor of activated STAT 1
Synonyms 2900068C24Rik, Ddxbp1, GBP
MMRRC Submission 042489-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 62785648-62888161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62820080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 296 (R296G)
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: R296G

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: R296G

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
AA Change: R296G

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.4059 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,529 (GRCm39) I744T possibly damaging Het
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Atf6b A G 17: 34,873,529 (GRCm39) H660R probably damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Galnt13 C A 2: 54,950,584 (GRCm39) Q422K probably damaging Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Nsfl1c T A 2: 151,348,230 (GRCm39) D206E probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Rtn1 C T 12: 72,264,232 (GRCm39) V192I possibly damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc5a8 T C 10: 88,727,886 (GRCm39) Y118H probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Uroc1 G T 6: 90,334,519 (GRCm39) R577L probably damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E probably benign 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
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'- ATCCTCTATAACAACAAGCTCTGG -3'
(R):5'- GGCAGCCTATAAATCAGGATTCAC -3'

Sequencing Primer
(F):5'- TCTATAACAACAAGCTCTGGTAAAC -3'
(R):5'- AGACCTATTCCATGGCAG -3'
Posted On 2016-03-17