Incidental Mutation 'IGL02379:Pias2'
ID 291313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pias2
Ensembl Gene ENSMUSG00000025423
Gene Name protein inhibitor of activated STAT 2
Synonyms PIASxb, PIASxalpha, PIASxbeta, ARIP3, Miz1, 6330408K17Rik, Dib
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02379
Quality Score
Status
Chromosome 18
Chromosomal Location 77152904-77241496 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 77232844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114776] [ENSMUST00000114777] [ENSMUST00000168882]
AlphaFold Q8C5D8
Predicted Effect probably benign
Transcript: ENSMUST00000114776
SMART Domains Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423

DomainStartEndE-ValueType
SAP 4 38 2.01e-5 SMART
low complexity region 95 110 N/A INTRINSIC
Pfam:PINIT 134 290 7e-45 PFAM
Pfam:zf-MIZ 335 384 4.9e-24 PFAM
low complexity region 468 476 N/A INTRINSIC
low complexity region 502 515 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114777
SMART Domains Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423

DomainStartEndE-ValueType
SAP 11 45 2.01e-5 SMART
low complexity region 102 117 N/A INTRINSIC
low complexity region 135 144 N/A INTRINSIC
Pfam:PINIT 145 297 4.8e-38 PFAM
Pfam:zf-MIZ 342 391 1.7e-24 PFAM
low complexity region 475 483 N/A INTRINSIC
low complexity region 509 522 N/A INTRINSIC
low complexity region 571 610 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168882
SMART Domains Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423

DomainStartEndE-ValueType
SAP 4 38 2.01e-5 SMART
low complexity region 95 110 N/A INTRINSIC
Pfam:PINIT 134 290 2.3e-44 PFAM
Pfam:zf-MIZ 335 384 2.6e-23 PFAM
low complexity region 468 476 N/A INTRINSIC
low complexity region 502 515 N/A INTRINSIC
low complexity region 564 603 N/A INTRINSIC
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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2011]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype although abnormalities are reported in the testes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,760,106 (GRCm39) I996F probably damaging Het
Adamts9 T A 6: 92,774,014 (GRCm39) D1133V probably damaging Het
Adi1 T A 12: 28,729,466 (GRCm39) D106E probably damaging Het
Agl A G 3: 116,572,740 (GRCm39) F837S probably damaging Het
Alb T A 5: 90,613,738 (GRCm39) D207E probably benign Het
Alms1 T G 6: 85,606,615 (GRCm39) V2286G probably damaging Het
Alpl G A 4: 137,469,869 (GRCm39) A485V probably damaging Het
Antxrl C A 14: 33,778,492 (GRCm39) probably null Het
Apc C T 18: 34,431,798 (GRCm39) T417I probably benign Het
Ash2l T C 8: 26,312,799 (GRCm39) D390G probably damaging Het
Asph G A 4: 9,474,980 (GRCm39) P582S probably damaging Het
Bcr T A 10: 74,992,980 (GRCm39) L825Q probably benign Het
Bhlha15 T A 5: 144,128,159 (GRCm39) N90K probably damaging Het
Cgnl1 T A 9: 71,552,835 (GRCm39) Y1043F possibly damaging Het
Chek1 T C 9: 36,635,242 (GRCm39) D47G probably benign Het
Clca4b T A 3: 144,627,619 (GRCm39) M451L probably benign Het
Csnk1g3 T C 18: 54,066,564 (GRCm39) S346P probably benign Het
Cspg4 G T 9: 56,799,893 (GRCm39) probably benign Het
Ctr9 A G 7: 110,650,726 (GRCm39) K884E probably damaging Het
Cyld T A 8: 89,471,556 (GRCm39) C813* probably null Het
Fn3k A T 11: 121,325,950 (GRCm39) T46S probably benign Het
Foxred1 T C 9: 35,121,282 (GRCm39) R89G probably benign Het
Gpr174 T C X: 106,337,084 (GRCm39) F299L probably damaging Het
Hdac7 T C 15: 97,706,266 (GRCm39) D312G probably damaging Het
Il36b A G 2: 24,044,650 (GRCm39) S17G probably benign Het
Kcna5 G T 6: 126,511,472 (GRCm39) P219T probably damaging Het
Kcnh2 A C 5: 24,531,636 (GRCm39) V425G probably damaging Het
Klk1b5 A G 7: 43,500,246 (GRCm39) N278S probably damaging Het
Mars2 T A 1: 55,277,212 (GRCm39) W272R probably damaging Het
Msl3l2 C A 10: 55,992,017 (GRCm39) S247R possibly damaging Het
Myh7 T C 14: 55,216,925 (GRCm39) E1144G probably damaging Het
Nefm T C 14: 68,357,688 (GRCm39) probably benign Het
Nwd2 A G 5: 63,962,644 (GRCm39) K743E probably damaging Het
Nyap2 C T 1: 81,065,147 (GRCm39) T53I probably damaging Het
Odad4 A T 11: 100,457,809 (GRCm39) N471Y possibly damaging Het
Or10ag58 T C 2: 87,265,668 (GRCm39) V279A probably benign Het
Or52z12 T C 7: 103,234,099 (GRCm39) V290A possibly damaging Het
Peli2 A G 14: 48,405,755 (GRCm39) H60R probably damaging Het
Pik3c2b A G 1: 133,022,529 (GRCm39) D1157G probably damaging Het
Pip4k2a C T 2: 18,870,922 (GRCm39) probably null Het
Raf1 A T 6: 115,621,509 (GRCm39) D23E probably benign Het
Rhox10 G A X: 37,155,733 (GRCm39) R87H probably benign Het
Rpgrip1 A G 14: 52,376,345 (GRCm39) T449A possibly damaging Het
Serpina3a T A 12: 104,084,919 (GRCm39) S105T probably benign Het
Slc12a9 T G 5: 137,319,691 (GRCm39) Q608P probably damaging Het
Smg6 C A 11: 74,944,751 (GRCm39) P167T probably damaging Het
Spata7 C T 12: 98,600,519 (GRCm39) T44I probably damaging Het
Spink12 C T 18: 44,239,575 (GRCm39) probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stag2 C T X: 41,339,474 (GRCm39) T754I probably benign Het
Supt6 C T 11: 78,116,195 (GRCm39) V723M possibly damaging Het
Ubr3 A G 2: 69,778,832 (GRCm39) D614G possibly damaging Het
Vps39 T A 2: 120,154,089 (GRCm39) K624N probably benign Het
Vwa5b1 A T 4: 138,340,170 (GRCm39) L29Q probably damaging Het
Wtap G A 17: 13,188,336 (GRCm39) A188V probably benign Het
Zc3hc1 A G 6: 30,390,974 (GRCm39) F5L probably benign Het
Zfp655 C T 5: 145,180,765 (GRCm39) P208S probably benign Het
Zswim3 A T 2: 164,662,602 (GRCm39) probably null Het
Other mutations in Pias2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Pias2 APN 18 77,220,907 (GRCm39) missense probably damaging 1.00
IGL01105:Pias2 APN 18 77,220,852 (GRCm39) missense probably damaging 1.00
IGL02932:Pias2 APN 18 77,232,799 (GRCm39) missense probably damaging 1.00
IGL03181:Pias2 APN 18 77,220,938 (GRCm39) missense possibly damaging 0.83
IGL03389:Pias2 APN 18 77,185,354 (GRCm39) missense probably damaging 1.00
IGL03138:Pias2 UTSW 18 77,237,796 (GRCm39) critical splice donor site probably null
R0492:Pias2 UTSW 18 77,193,581 (GRCm39) missense probably damaging 1.00
R0577:Pias2 UTSW 18 77,184,977 (GRCm39) missense probably damaging 1.00
R1660:Pias2 UTSW 18 77,207,825 (GRCm39) missense probably damaging 1.00
R1866:Pias2 UTSW 18 77,240,412 (GRCm39) missense probably benign 0.03
R1901:Pias2 UTSW 18 77,185,139 (GRCm39) nonsense probably null
R1996:Pias2 UTSW 18 77,216,759 (GRCm39) critical splice donor site probably null
R2107:Pias2 UTSW 18 77,185,167 (GRCm39) missense probably benign 0.35
R4439:Pias2 UTSW 18 77,185,399 (GRCm39) missense probably damaging 1.00
R4603:Pias2 UTSW 18 77,217,803 (GRCm39) missense probably damaging 0.99
R4747:Pias2 UTSW 18 77,240,488 (GRCm39) makesense probably null
R4816:Pias2 UTSW 18 77,193,587 (GRCm39) critical splice donor site probably null
R5697:Pias2 UTSW 18 77,220,884 (GRCm39) missense probably damaging 1.00
R6265:Pias2 UTSW 18 77,184,954 (GRCm39) missense probably damaging 1.00
R6375:Pias2 UTSW 18 77,240,366 (GRCm39) missense possibly damaging 0.96
R6545:Pias2 UTSW 18 77,217,781 (GRCm39) missense possibly damaging 0.61
R6713:Pias2 UTSW 18 77,153,416 (GRCm39) splice site probably null
R7193:Pias2 UTSW 18 77,207,817 (GRCm39) missense possibly damaging 0.76
R7232:Pias2 UTSW 18 77,220,931 (GRCm39) missense probably benign 0.02
R7253:Pias2 UTSW 18 77,207,811 (GRCm39) missense probably damaging 0.97
R7259:Pias2 UTSW 18 77,240,416 (GRCm39) missense possibly damaging 0.73
R8018:Pias2 UTSW 18 77,216,654 (GRCm39) missense probably benign 0.00
R8534:Pias2 UTSW 18 77,185,083 (GRCm39) missense possibly damaging 0.68
R8879:Pias2 UTSW 18 77,234,464 (GRCm39) nonsense probably null
R9215:Pias2 UTSW 18 77,216,677 (GRCm39) missense probably damaging 1.00
X0009:Pias2 UTSW 18 77,232,793 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16