Incidental Mutation 'R7193:Pias2'
ID 559755
Institutional Source Beutler Lab
Gene Symbol Pias2
Ensembl Gene ENSMUSG00000025423
Gene Name protein inhibitor of activated STAT 2
Synonyms PIASxb, PIASxalpha, PIASxbeta, ARIP3, Miz1, 6330408K17Rik, Dib
MMRRC Submission 045334-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7193 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77152904-77241496 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77207817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 234 (V234A)
Ref Sequence ENSEMBL: ENSMUSP00000110425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114776] [ENSMUST00000114777] [ENSMUST00000168882]
AlphaFold Q8C5D8
Predicted Effect possibly damaging
Transcript: ENSMUST00000114776
AA Change: V227A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: V227A

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 possibly damaging
Transcript: ENSMUST00000114777
AA Change: V234A

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: V234A

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 damaging
Transcript: ENSMUST00000168882
AA Change: V227A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: V227A

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
Meta Mutation Damage Score 0.3592 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,265,963 (GRCm39) probably null Het
Abca16 T C 7: 120,026,409 (GRCm39) S124P probably damaging Het
Acan A T 7: 78,736,090 (GRCm39) S179C probably damaging Het
Atg2b A C 12: 105,630,967 (GRCm39) H319Q probably damaging Het
Bptf G A 11: 106,945,635 (GRCm39) Q2535* probably null Het
Brpf3 T C 17: 29,055,665 (GRCm39) *1205R probably null Het
Cabyr C A 18: 12,884,815 (GRCm39) P434Q probably damaging Het
Cacna1g C A 11: 94,300,057 (GRCm39) D2268Y possibly damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cct4 A G 11: 22,947,111 (GRCm39) T201A probably benign Het
Cdyl2 A C 8: 117,350,733 (GRCm39) S133A probably benign Het
Cep76 A G 18: 67,774,204 (GRCm39) L14P possibly damaging Het
Cert1 T A 13: 96,767,341 (GRCm39) probably null Het
Crybg3 A T 16: 59,379,956 (GRCm39) S433T possibly damaging Het
Cul9 T C 17: 46,849,423 (GRCm39) K574R probably damaging Het
Cyp2u1 T C 3: 131,084,792 (GRCm39) I527V probably benign Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
F5 A G 1: 164,046,966 (GRCm39) N2142S probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Flnc A G 6: 29,450,870 (GRCm39) Y1506C probably damaging Het
Foxred2 T A 15: 77,836,230 (GRCm39) S376C probably damaging Het
Gbe1 T C 16: 70,292,258 (GRCm39) L530P probably damaging Het
Hmcn1 T C 1: 150,525,331 (GRCm39) R3398G probably null Het
Igf1r T C 7: 67,836,905 (GRCm39) L587P probably damaging Het
Ints15 A G 5: 143,293,598 (GRCm39) V293A probably benign Het
Kcna3 T C 3: 106,943,853 (GRCm39) Y39H probably benign Het
Krtap5-2 GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA GCTACAGCCTCCCTTGCA 7: 141,728,980 (GRCm39) probably benign Het
Mbl1 T C 14: 40,880,669 (GRCm39) F186L probably damaging Het
Ncam2 A T 16: 81,386,683 (GRCm39) K687N probably damaging Het
Nedd4l T C 18: 65,130,441 (GRCm39) V24A probably damaging Het
Nek1 A G 8: 61,526,612 (GRCm39) E661G probably damaging Het
Nudt14 G T 12: 112,902,940 (GRCm39) D28E probably benign Het
Or13n4 T C 7: 106,423,798 (GRCm39) probably benign Het
Or1j15 T A 2: 36,459,248 (GRCm39) C213S probably benign Het
Or2n1 T A 17: 38,485,987 (GRCm39) I4N probably benign Het
Or4k47 A T 2: 111,451,600 (GRCm39) V273E probably damaging Het
Pdk4 A T 6: 5,487,089 (GRCm39) M319K probably benign Het
Pfkp T C 13: 6,643,252 (GRCm39) N522S probably benign Het
Pik3c2b C A 1: 133,007,512 (GRCm39) H625Q probably benign Het
Pnpla7 T C 2: 24,941,627 (GRCm39) S1117P probably damaging Het
Prdm2 A T 4: 142,907,464 (GRCm39) V36D probably damaging Het
Prep C T 10: 44,968,795 (GRCm39) R98C probably benign Het
Rae1 T C 2: 172,850,110 (GRCm39) probably null Het
Rgs3 T A 4: 62,533,573 (GRCm39) V138E probably damaging Het
Rnf185 T C 11: 3,375,329 (GRCm39) T142A possibly damaging Het
Rsph6a C A 7: 18,799,572 (GRCm39) P401Q probably damaging Het
Runx3 A T 4: 134,848,456 (GRCm39) T14S probably benign Het
Scaf11 A G 15: 96,317,042 (GRCm39) S841P probably damaging Het
Spta1 T A 1: 174,012,178 (GRCm39) L328Q probably damaging Het
Sqor G A 2: 122,645,929 (GRCm39) V318M probably damaging Het
Stox2 T C 8: 47,639,489 (GRCm39) T902A probably benign Het
Susd3 T C 13: 49,384,679 (GRCm39) H248R probably damaging Het
Syne1 T C 10: 5,183,406 (GRCm39) Y4133C probably damaging Het
Tbc1d20 C T 2: 152,153,337 (GRCm39) T289M probably benign Het
Unc80 T A 1: 66,588,943 (GRCm39) F1036Y possibly damaging Het
Zbtb7c T C 18: 76,271,009 (GRCm39) C366R probably damaging Het
Zeb1 A T 18: 5,772,756 (GRCm39) D1015V probably damaging Het
Zfp606 T G 7: 12,227,966 (GRCm39) S696A probably benign 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
IGL02379:Pias2 APN 18 77,232,844 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACACAGTCCAAGTCCAGCTG -3'
(R):5'- GCTCAGCTGTTAGATATGATCCAAG -3'

Sequencing Primer
(F):5'- AAGTCCAGCTGCGGTGAG -3'
(R):5'- GATCCAAGAGTCAATCAAAACTTTG -3'
Posted On 2019-06-26