Incidental Mutation 'IGL00340:Pias1'
ID332349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pias1
Ensembl Gene ENSMUSG00000032405
Gene Nameprotein inhibitor of activated STAT 1
SynonymsDdxbp1, GBP, 2900068C24Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.940) question?
Stock #IGL00340
Quality Score
Status
Chromosome9
Chromosomal Location62878368-62987924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62923296 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000149590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098651] [ENSMUST00000214830] [ENSMUST00000216209]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098651
AA Change: V196A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: V196A

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: V196A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215455
Predicted Effect probably damaging
Transcript: ENSMUST00000216209
AA Change: V187A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G T 2: 111,220,762 L230I probably damaging Het
Adamts3 G A 5: 89,701,666 H632Y probably damaging Het
Adgre5 T A 8: 83,728,401 M221L probably benign Het
Apba2 A T 7: 64,736,941 I439F possibly damaging Het
Arid1b C A 17: 5,321,284 N632K probably damaging Het
Bcas3 A T 11: 85,365,591 I60L probably damaging Het
Brd9 T C 13: 73,938,547 S56P probably damaging Het
Ccdc57 T A 11: 120,860,469 D925V possibly damaging Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Cdhr3 T C 12: 33,052,209 T410A probably benign Het
Ddx60 G T 8: 61,958,646 D511Y probably damaging Het
Drc7 C A 8: 95,056,001 probably benign Het
Dysf A G 6: 84,141,951 E1290G probably benign Het
Fam168b T C 1: 34,836,802 M1V probably null Het
Farsa A G 8: 84,864,257 K208R probably damaging Het
Fnip2 A G 3: 79,518,061 probably benign Het
Gm17535 A T 9: 3,035,111 H170L probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm5852 T C 3: 93,727,194 noncoding transcript Het
Gnb2 T C 5: 137,530,706 probably benign Het
Gpr158 A G 2: 21,368,683 N143S probably damaging Het
Hcn1 C A 13: 117,602,977 Q92K unknown Het
Helb T C 10: 120,098,245 I678V possibly damaging Het
Hnrnpl C A 7: 28,813,373 A118D probably damaging Het
Klhl14 G A 18: 21,651,864 P169S probably benign Het
Kndc1 T C 7: 139,901,988 probably benign Het
Lmod2 A G 6: 24,598,052 E57G probably damaging Het
Lrch4 T C 5: 137,637,747 I300T possibly damaging Het
Lrp6 A G 6: 134,456,090 V1426A probably benign Het
Lrrc39 A G 3: 116,570,981 probably benign Het
Mamstr G A 7: 45,644,285 V262I probably benign Het
Mob1b A T 5: 88,756,155 T217S probably benign Het
Mocs3 G A 2: 168,231,491 R286H possibly damaging Het
Mpo A T 11: 87,802,617 Q27L probably benign Het
Ncdn A T 4: 126,747,188 D506E probably benign Het
Noxa1 A G 2: 25,094,902 I8T probably benign Het
Olfr46 T A 7: 140,610,753 S196T probably damaging Het
Olfr514 C T 7: 108,825,073 V309I probably benign Het
Olfr878 A G 9: 37,919,050 Y131C probably damaging Het
Oma1 G T 4: 103,319,368 A110S probably benign Het
Pde4a A C 9: 21,211,061 K694T probably benign Het
Phc1 A G 6: 122,322,999 probably benign Het
Pifo A G 3: 106,014,508 V33A probably benign Het
Pigf C A 17: 87,020,448 L130F probably null Het
Pkd1 G T 17: 24,580,095 V2763L probably damaging Het
Ppp1r8 T C 4: 132,834,681 Y76C probably damaging Het
Ppp6r3 C A 19: 3,518,324 G158V probably damaging Het
Ptpn13 A G 5: 103,551,058 I1136V probably damaging Het
Ptprq T C 10: 107,576,929 I1770V probably damaging Het
Rhpn2 A T 7: 35,370,760 I148F probably damaging Het
Stard3 T C 11: 98,377,459 Y239H probably damaging Het
Stau1 T C 2: 166,950,809 Y412C probably benign Het
Sucnr1 A G 3: 60,086,632 I194V probably benign Het
Tanc1 A G 2: 59,790,841 T335A possibly damaging Het
Tmem126a T C 7: 90,452,755 T79A probably benign Het
Trav9-2 A T 14: 53,591,383 Y70F probably benign Het
Tspear A G 10: 77,873,236 E432G probably benign Het
Ube2o T C 11: 116,544,754 R403G probably benign Het
Unc80 C A 1: 66,606,459 S1431R possibly damaging Het
Usp24 G A 4: 106,401,139 C1578Y probably damaging Het
Vsig10 A T 5: 117,351,587 M473L probably benign Het
Xpot T A 10: 121,605,644 M559L probably benign Het
Other mutations in Pias1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Pias1 APN 9 62912855 missense probably benign 0.00
IGL02412:Pias1 APN 9 62893139 missense probably benign 0.44
IGL02728:Pias1 APN 9 62923644 missense probably damaging 1.00
IGL02728:Pias1 APN 9 62923645 missense possibly damaging 0.80
R0479:Pias1 UTSW 9 62893118 splice site probably benign
R0494:Pias1 UTSW 9 62887311 nonsense probably null
R0524:Pias1 UTSW 9 62952178 missense probably damaging 1.00
R0558:Pias1 UTSW 9 62882009 missense possibly damaging 0.82
R1279:Pias1 UTSW 9 62892145 missense probably damaging 0.98
R1525:Pias1 UTSW 9 62920487 missense probably damaging 1.00
R1769:Pias1 UTSW 9 62952178 missense probably damaging 1.00
R2157:Pias1 UTSW 9 62912830 missense possibly damaging 0.63
R2201:Pias1 UTSW 9 62951855 missense possibly damaging 0.94
R4193:Pias1 UTSW 9 62952004 missense possibly damaging 0.80
R4726:Pias1 UTSW 9 62920489 missense probably damaging 0.96
R4880:Pias1 UTSW 9 62912798 missense probably benign 0.32
R5107:Pias1 UTSW 9 62882228 missense probably benign 0.11
R5574:Pias1 UTSW 9 62920493 missense probably damaging 0.99
R5634:Pias1 UTSW 9 62895973 missense probably benign 0.10
R5869:Pias1 UTSW 9 62912766 missense probably benign 0.06
R6518:Pias1 UTSW 9 62951860 missense probably damaging 1.00
R6634:Pias1 UTSW 9 62919424 missense probably damaging 1.00
R6798:Pias1 UTSW 9 62892169 missense probably benign
R6799:Pias1 UTSW 9 62882052 missense probably benign 0.10
R7099:Pias1 UTSW 9 62881145 missense
R8361:Pias1 UTSW 9 62919386 missense possibly damaging 0.95
R8510:Pias1 UTSW 9 62923637 missense probably damaging 1.00
X0017:Pias1 UTSW 9 62980845 splice site probably null
Z1177:Pias1 UTSW 9 62912823 missense probably benign 0.31
Posted On2015-08-05