Incidental Mutation 'R1525:Pias1'
ID 167790
Institutional Source Beutler Lab
Gene Symbol Pias1
Ensembl Gene ENSMUSG00000032405
Gene Name protein inhibitor of activated STAT 1
Synonyms 2900068C24Rik, Ddxbp1, GBP
MMRRC Submission 040872-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R1525 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 62785648-62888161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62827769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 222 (K222E)
Ref Sequence ENSEMBL: ENSMUSP00000096248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098651] [ENSMUST00000214830] [ENSMUST00000216209]
AlphaFold O88907
Predicted Effect probably damaging
Transcript: ENSMUST00000098651
AA Change: K222E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: K222E

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 possibly damaging
Transcript: ENSMUST00000214830
AA Change: K222E

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215455
Predicted Effect probably damaging
Transcript: ENSMUST00000216209
AA Change: K213E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,252,062 (GRCm39) H840Q probably benign Het
Amotl2 C T 9: 102,605,767 (GRCm39) R540C probably damaging Het
Brpf1 A G 6: 113,294,115 (GRCm39) E605G probably damaging Het
Cacna2d3 T C 14: 28,694,199 (GRCm39) I865V probably benign Het
Cdh24 A T 14: 54,876,046 (GRCm39) F199I probably damaging Het
Cdk9 A G 2: 32,600,521 (GRCm39) V27A probably damaging Het
Cfap69 G T 5: 5,690,230 (GRCm39) probably null Het
Cyp2d11 G T 15: 82,273,498 (GRCm39) L458I probably damaging Het
Dchs1 T C 7: 105,408,138 (GRCm39) E1898G probably damaging Het
Dennd4b G T 3: 90,178,177 (GRCm39) L456F probably damaging Het
Dgat1 T C 15: 76,395,786 (GRCm39) T66A probably benign Het
Dock10 C A 1: 80,583,881 (GRCm39) probably null Het
Fam110b A G 4: 5,799,578 (GRCm39) D332G possibly damaging Het
Fem1al A C 11: 29,773,994 (GRCm39) Y488D probably benign Het
Frmd4b G A 6: 97,273,347 (GRCm39) P628S probably damaging Het
Ice1 A T 13: 70,753,529 (GRCm39) H852Q probably benign Het
Il17ra T C 6: 120,450,751 (GRCm39) V116A probably damaging Het
Ints9 T C 14: 65,232,460 (GRCm39) I173T probably benign Het
Kctd14 A T 7: 97,107,074 (GRCm39) M110L probably benign Het
Krt6a T G 15: 101,602,637 (GRCm39) Y16S probably benign Het
Lamc2 T C 1: 153,006,502 (GRCm39) N883S probably benign Het
Larp4b C T 13: 9,195,486 (GRCm39) T195M probably damaging Het
Lrp1 A G 10: 127,375,398 (GRCm39) L4432P probably damaging Het
Mei4 T C 9: 81,772,252 (GRCm39) S22P probably damaging Het
Mep1a T C 17: 43,802,527 (GRCm39) Q166R probably damaging Het
Mroh2b C A 15: 4,980,612 (GRCm39) probably null Het
Myoc T G 1: 162,476,220 (GRCm39) L308R probably damaging Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Or1j21 A T 2: 36,684,155 (GRCm39) R302S probably null Het
Or2t6 T A 14: 14,175,725 (GRCm38) Y119F probably damaging Het
Or4c101 C G 2: 88,389,985 (GRCm39) S57R probably damaging Het
Pdilt T A 7: 119,087,217 (GRCm39) T478S probably damaging Het
Prss16 A C 13: 22,193,613 (GRCm39) L61V possibly damaging Het
Pttg1ip2 C A 5: 5,502,019 (GRCm39) W144C probably benign Het
Pvr G A 7: 19,644,551 (GRCm39) Q328* probably null Het
Ranbp3 A G 17: 57,017,865 (GRCm39) D481G possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,115 (GRCm39) probably benign Het
Ryr3 G T 2: 112,508,435 (GRCm39) D3419E probably damaging Het
Scn1a C T 2: 66,149,806 (GRCm39) W946* probably null Het
Sh3pxd2a T C 19: 47,266,864 (GRCm39) K242E probably damaging Het
Slc34a2 A G 5: 53,226,848 (GRCm39) D657G probably benign Het
Stard9 T A 2: 120,532,533 (GRCm39) I2930K probably benign Het
Syna T C 5: 134,588,112 (GRCm39) D279G probably benign Het
Tfr2 T C 5: 137,577,292 (GRCm39) F415L probably benign Het
Tmem97 T A 11: 78,433,586 (GRCm39) Y103F probably damaging Het
Tmem97 A T 11: 78,433,587 (GRCm39) Y103N probably damaging Het
Txndc2 T A 17: 65,945,310 (GRCm39) D289V probably damaging Het
Zbtb1 T G 12: 76,433,206 (GRCm39) D397E probably benign Het
Zc3h18 T C 8: 123,140,677 (GRCm39) S847P probably benign Het
Zfp382 G A 7: 29,833,144 (GRCm39) G265E probably damaging Het
Zfp410 T C 12: 84,369,740 (GRCm39) L39S probably damaging Het
Zfp729a G T 13: 67,767,440 (GRCm39) P930T 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
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
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'- AAAATGTCTCCTTGTGGTACTGGAGC -3'
(R):5'- TGTCTGATTGCACAGAAGCAGGAAAC -3'

Sequencing Primer
(F):5'- CTGGAGCTGAATTCAGCATCT -3'
(R):5'- ggtgtggttggtctgtgtg -3'
Posted On 2014-04-13