Incidental Mutation 'R7235:Pias3'
ID 562744
Institutional Source Beutler Lab
Gene Symbol Pias3
Ensembl Gene ENSMUSG00000028101
Gene Name protein inhibitor of activated STAT 3
Synonyms Pias3L
MMRRC Submission 045305-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R7235 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 96603700-96613386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96611679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 533 (S533T)
Ref Sequence ENSEMBL: ENSMUSP00000069259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029742] [ENSMUST00000064900] [ENSMUST00000107076] [ENSMUST00000107077] [ENSMUST00000162778] [ENSMUST00000162934] [ENSMUST00000171249] [ENSMUST00000176302] [ENSMUST00000200387]
AlphaFold O54714
Predicted Effect probably benign
Transcript: ENSMUST00000029742
SMART Domains Protein: ENSMUSP00000029742
Gene: ENSMUSG00000028100

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:NUDIX 92 252 2.2e-9 PFAM
low complexity region 273 288 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064900
AA Change: S533T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: S533T

DomainStartEndE-ValueType
SAP 11 45 3.75e-5 SMART
low complexity region 70 109 N/A INTRINSIC
Pfam:PINIT 126 278 1.1e-38 PFAM
Pfam:zf-MIZ 323 372 1.7e-22 PFAM
low complexity region 608 617 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107076
AA Change: S524T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: S524T

DomainStartEndE-ValueType
SAP 2 36 3.75e-5 SMART
low complexity region 61 100 N/A INTRINSIC
Pfam:PINIT 113 269 1.1e-45 PFAM
Pfam:zf-Nse 305 361 8e-7 PFAM
Pfam:zf-MIZ 314 363 2.2e-21 PFAM
low complexity region 599 608 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107077
AA Change: S498T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101
AA Change: S498T

DomainStartEndE-ValueType
SAP 11 45 3.75e-5 SMART
Pfam:PINIT 87 243 5.3e-46 PFAM
Pfam:zf-Nse 279 335 2.4e-7 PFAM
Pfam:zf-MIZ 288 337 7.4e-22 PFAM
low complexity region 573 582 N/A INTRINSIC
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000162778
SMART Domains Protein: ENSMUSP00000125377
Gene: ENSMUSG00000028101

DomainStartEndE-ValueType
SAP 2 36 3.75e-5 SMART
low complexity region 61 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162934
SMART Domains Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101

DomainStartEndE-ValueType
SAP 2 36 3.75e-5 SMART
low complexity region 61 100 N/A INTRINSIC
Pfam:PINIT 113 269 1.3e-46 PFAM
Pfam:zf-Nse 305 361 7e-8 PFAM
Pfam:zf-MIZ 314 363 2.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171249
SMART Domains Protein: ENSMUSP00000129851
Gene: ENSMUSG00000028100

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:NUDIX 92 235 1.2e-18 PFAM
low complexity region 256 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176302
SMART Domains Protein: ENSMUSP00000134835
Gene: ENSMUSG00000028101

DomainStartEndE-ValueType
SAP 2 36 2.57e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200387
SMART Domains Protein: ENSMUSP00000142879
Gene: ENSMUSG00000028100

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:NUDIX 79 125 4.2e-6 PFAM
Meta Mutation Damage Score 0.0606 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (61/62)
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 PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Double KO mice display a retinal phenotype reduced M-cone response at P21 and reduced S-cone and rod responses from 7 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,852 (GRCm39) M3712K unknown Het
Bri3bp A G 5: 125,518,748 (GRCm39) E8G unknown Het
Brip1 C T 11: 86,029,701 (GRCm39) R611Q possibly damaging Het
Carm1 T G 9: 21,498,701 (GRCm39) probably benign Het
Catsper4 A T 4: 133,939,892 (GRCm39) probably null Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cip2a T A 16: 48,821,422 (GRCm39) L176H probably damaging Het
Clk4 A G 11: 51,167,012 (GRCm39) D330G probably damaging Het
Dcdc2c A G 12: 28,520,718 (GRCm39) S453P Het
Ddx46 G A 13: 55,811,053 (GRCm39) V550I probably benign Het
Dennd1a T C 2: 37,691,073 (GRCm39) N676D probably benign Het
Dnah3 T C 7: 119,631,893 (GRCm39) N1365S probably damaging Het
Dsg1b T C 18: 20,532,480 (GRCm39) V508A probably benign Het
Dus2 T C 8: 106,742,587 (GRCm39) V39A possibly damaging Het
Dync1li1 T C 9: 114,544,231 (GRCm39) V301A possibly damaging Het
Efcc1 T G 6: 87,730,780 (GRCm39) S513A probably benign Het
Eif3f T C 7: 108,537,295 (GRCm39) V167A possibly damaging Het
Ephb2 A G 4: 136,421,139 (GRCm39) Y404H probably damaging Het
Eqtn A T 4: 94,811,936 (GRCm39) D152E probably damaging Het
Ercc5 A C 1: 44,217,363 (GRCm39) K902T possibly damaging Het
Erlec1 T A 11: 30,900,751 (GRCm39) E139V possibly damaging Het
Evl G A 12: 108,614,719 (GRCm39) G38R probably damaging Het
Fads2b T G 2: 85,330,563 (GRCm39) H248P probably damaging Het
Foxd2 T C 4: 114,765,468 (GRCm39) N184S unknown Het
Frem3 T C 8: 81,417,354 (GRCm39) Y2020H probably benign Het
Ganc T C 2: 120,264,198 (GRCm39) F384L probably damaging Het
Grin2a A G 16: 9,397,129 (GRCm39) L986P probably damaging Het
Ift140 A T 17: 25,239,619 (GRCm39) D92V possibly damaging Het
Inpp5b A G 4: 124,645,185 (GRCm39) K158E probably benign Het
Iscu T A 5: 113,914,943 (GRCm39) S152T probably benign Het
Isl2 C T 9: 55,451,455 (GRCm39) T115I probably benign Het
Kalrn T A 16: 33,996,131 (GRCm39) T1542S probably benign Het
Kat6a A G 8: 23,404,285 (GRCm39) D454G possibly damaging Het
Kcnj10 T C 1: 172,196,993 (GRCm39) I169T probably damaging Het
Klk12 T C 7: 43,422,723 (GRCm39) S217P probably damaging Het
Lancl1 T C 1: 67,077,694 (GRCm39) N14S probably benign Het
Map2 A G 1: 66,453,807 (GRCm39) Y899C probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Nr1h5 C T 3: 102,856,358 (GRCm39) probably null Het
Nup98 T C 7: 101,774,491 (GRCm39) T1515A probably damaging Het
Obscn A C 11: 58,971,666 (GRCm39) V2183G probably damaging Het
Or52n2 C T 7: 104,541,926 (GRCm39) R303Q probably benign Het
Osbpl8 A G 10: 111,105,288 (GRCm39) T248A probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plxna1 A G 6: 89,317,573 (GRCm39) Y680H probably damaging Het
Pnliprp2 A G 19: 58,763,659 (GRCm39) N436S probably benign Het
Pold1 T A 7: 44,191,244 (GRCm39) M196L probably benign Het
Prkdc G A 16: 15,532,127 (GRCm39) V1464I probably benign Het
Ptk2b G A 14: 66,394,536 (GRCm39) Q857* probably null Het
Qars1 T A 9: 108,387,331 (GRCm39) L185Q probably damaging Het
Rabep1 A G 11: 70,831,290 (GRCm39) N859S probably benign Het
Rnf19b A G 4: 128,977,571 (GRCm39) H156R Het
Sart3 T C 5: 113,891,703 (GRCm39) Q423R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Slc6a21 C T 7: 44,930,182 (GRCm39) H194Y probably damaging Het
Tcf4 G A 18: 69,790,866 (GRCm39) V420I probably damaging Het
Tjp1 T C 7: 64,968,321 (GRCm39) D701G probably benign Het
Trim42 T C 9: 97,251,761 (GRCm39) D46G probably damaging Het
Usp19 C T 9: 108,372,123 (GRCm39) R429* probably null Het
Uxs1 T C 1: 43,804,087 (GRCm39) N276S probably damaging Het
Vps50 A G 6: 3,588,078 (GRCm39) I684V probably benign Het
Yars2 T A 16: 16,122,556 (GRCm39) D307E probably benign Het
Zfp934 A T 13: 62,665,964 (GRCm39) C258S Het
Other mutations in Pias3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Pias3 APN 3 96,606,738 (GRCm39) splice site probably benign
IGL01370:Pias3 APN 3 96,610,891 (GRCm39) missense probably damaging 0.96
IGL01806:Pias3 APN 3 96,611,073 (GRCm39) missense probably benign 0.02
IGL02533:Pias3 APN 3 96,606,932 (GRCm39) missense possibly damaging 0.71
IGL02998:Pias3 APN 3 96,609,495 (GRCm39) missense probably damaging 0.98
IGL03304:Pias3 APN 3 96,607,347 (GRCm39) missense possibly damaging 0.65
R0764:Pias3 UTSW 3 96,608,611 (GRCm39) missense probably damaging 1.00
R1611:Pias3 UTSW 3 96,607,013 (GRCm39) splice site probably null
R1697:Pias3 UTSW 3 96,609,541 (GRCm39) missense probably damaging 1.00
R1751:Pias3 UTSW 3 96,608,719 (GRCm39) missense probably damaging 1.00
R1767:Pias3 UTSW 3 96,608,719 (GRCm39) missense probably damaging 1.00
R2184:Pias3 UTSW 3 96,609,537 (GRCm39) missense possibly damaging 0.92
R2257:Pias3 UTSW 3 96,606,962 (GRCm39) missense probably benign 0.22
R2398:Pias3 UTSW 3 96,611,129 (GRCm39) missense probably benign 0.00
R2851:Pias3 UTSW 3 96,610,853 (GRCm39) missense possibly damaging 0.94
R3845:Pias3 UTSW 3 96,609,526 (GRCm39) missense probably benign 0.28
R4127:Pias3 UTSW 3 96,606,982 (GRCm39) missense probably damaging 0.97
R4500:Pias3 UTSW 3 96,608,734 (GRCm39) missense probably damaging 1.00
R4628:Pias3 UTSW 3 96,607,136 (GRCm39) missense probably damaging 1.00
R5068:Pias3 UTSW 3 96,611,171 (GRCm39) missense probably damaging 0.98
R5108:Pias3 UTSW 3 96,612,253 (GRCm39) missense possibly damaging 0.88
R5477:Pias3 UTSW 3 96,612,319 (GRCm39) missense probably damaging 0.99
R5498:Pias3 UTSW 3 96,609,504 (GRCm39) missense possibly damaging 0.89
R6457:Pias3 UTSW 3 96,606,839 (GRCm39) missense possibly damaging 0.81
R6966:Pias3 UTSW 3 96,609,511 (GRCm39) missense probably damaging 0.99
R7538:Pias3 UTSW 3 96,609,534 (GRCm39) missense possibly damaging 0.91
R7552:Pias3 UTSW 3 96,608,701 (GRCm39) frame shift probably null
R8791:Pias3 UTSW 3 96,612,201 (GRCm39) missense probably benign 0.22
R8815:Pias3 UTSW 3 96,607,381 (GRCm39) missense probably damaging 0.98
R9197:Pias3 UTSW 3 96,611,064 (GRCm39) missense probably benign 0.36
R9565:Pias3 UTSW 3 96,610,867 (GRCm39) missense possibly damaging 0.86
R9798:Pias3 UTSW 3 96,606,881 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTACATGAGTACCCACCTG -3'
(R):5'- GGGCTACGAAATCACAGGTGTG -3'

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