Incidental Mutation 'R6518:Pias1'
ID 520899
Institutional Source Beutler Lab
Gene Symbol Pias1
Ensembl Gene ENSMUSG00000032405
Gene Name protein inhibitor of activated STAT 1
Synonyms 2900068C24Rik, Ddxbp1, GBP
MMRRC Submission 044645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R6518 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 62785648-62888161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62859142 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 113 (L113P)
Ref Sequence ENSEMBL: ENSMUSP00000149590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098651] [ENSMUST00000214830] [ENSMUST00000216209]
AlphaFold O88907
Predicted Effect probably benign
Transcript: ENSMUST00000098651
AA Change: L122P

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: L122P

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: L122P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215455
Predicted Effect probably damaging
Transcript: ENSMUST00000216209
AA Change: L113P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2055 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,123,608 (GRCm39) D88G probably damaging Het
Abcc12 A G 8: 87,235,718 (GRCm39) Het
Angptl6 T C 9: 20,786,656 (GRCm39) H330R probably damaging Het
Asxl3 T A 18: 22,649,397 (GRCm39) V462E probably damaging Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
C1ra T A 6: 124,498,534 (GRCm39) probably null Het
C2 T A 17: 35,083,094 (GRCm39) I426F probably damaging Het
C4b A T 17: 34,953,179 (GRCm39) Y1049N probably damaging Het
Cdkn1b T A 6: 134,898,283 (GRCm39) M134K probably benign Het
Cenpn A G 8: 117,663,904 (GRCm39) D145G possibly damaging Het
Ckap2 A T 8: 22,663,319 (GRCm39) I492K probably benign Het
Cog2 G A 8: 125,253,842 (GRCm39) W67* probably null Het
Col7a1 T C 9: 108,784,595 (GRCm39) F172L unknown Het
Dcaf1 T C 9: 106,712,788 (GRCm39) I112T probably damaging Het
Ddx4 T C 13: 112,741,081 (GRCm39) I518V probably benign Het
Dnah10 T C 5: 124,835,419 (GRCm39) L908P probably damaging Het
Dsg3 T C 18: 20,666,479 (GRCm39) Y563H probably benign Het
Gm16686 A C 4: 88,673,725 (GRCm39) probably benign Het
Gpr139 A T 7: 118,743,734 (GRCm39) F284I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ice1 A T 13: 70,754,428 (GRCm39) F553I possibly damaging Het
Igkv6-29 T A 6: 70,115,497 (GRCm39) Q99L probably damaging Het
Lipt1 A G 1: 37,914,856 (GRCm39) N304S probably benign Het
Lmo1 A C 7: 108,742,783 (GRCm39) L39R probably damaging Het
Mcc T A 18: 44,794,878 (GRCm39) probably benign Het
Mindy3 T C 2: 12,386,940 (GRCm39) T74A probably damaging Het
Obi1 A T 14: 104,716,501 (GRCm39) L624H probably damaging Het
Or11a4 G T 17: 37,536,159 (GRCm39) A48S probably benign Het
Or13j1 A G 4: 43,706,334 (GRCm39) V78A probably benign Het
Or4e5 T C 14: 52,728,077 (GRCm39) I115V probably damaging Het
Ormdl1 T C 1: 53,348,116 (GRCm39) Y153H probably benign Het
Pdzrn3 A T 6: 101,127,475 (GRCm39) *1064K probably null Het
Piezo2 A T 18: 63,239,342 (GRCm39) I514N probably damaging Het
Prkd1 T C 12: 50,472,278 (GRCm39) T212A probably benign Het
Rsph10b A G 5: 143,900,691 (GRCm39) Y151C probably damaging Het
Samhd1 G A 2: 156,956,217 (GRCm39) T325M possibly damaging Het
Seh1l A G 18: 67,922,519 (GRCm39) T291A probably damaging Het
Smim24 A G 10: 81,229,695 (GRCm39) M1V probably null Het
Sp140 TTTTTTTTTTTT TTTTTTTTTTTTTTTTT 1: 85,572,291 (GRCm39) probably benign Het
Spata31f1e A G 4: 42,791,750 (GRCm39) I794T probably benign Het
Speer3 T G 5: 13,845,462 (GRCm39) I165S possibly damaging Het
Timm23 A G 14: 31,923,594 (GRCm39) probably null Het
Tmem17 A T 11: 22,467,427 (GRCm39) Y75F possibly damaging Het
Tmem86b A T 7: 4,632,608 (GRCm39) C85* probably null Het
Try5 A G 6: 41,291,613 (GRCm39) F6S probably benign Het
Vmn2r71 G T 7: 85,270,436 (GRCm39) C534F probably damaging Het
Vmn2r85 A T 10: 130,265,281 (GRCm39) D67E probably benign Het
Wars2 A T 3: 99,124,116 (GRCm39) M326L probably benign Het
Wdr70 A T 15: 8,108,821 (GRCm39) S108R unknown Het
Zfp677 A G 17: 21,618,392 (GRCm39) H483R 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
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
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'- TCGTTAACATCCTGACACTACTACC -3'
(R):5'- AGAACTCTACAGGAGGCGGTTC -3'

Sequencing Primer
(F):5'- ACATAAACCGAGTCAAACTTAAAGTC -3'
(R):5'- GGCGGTTCCCTCAGAAAATTATGAC -3'
Posted On 2018-06-06