Incidental Mutation 'R5108:Pias3'
ID 393652
Institutional Source Beutler Lab
Gene Symbol Pias3
Ensembl Gene ENSMUSG00000028101
Gene Name protein inhibitor of activated STAT 3
Synonyms Pias3L
MMRRC Submission 042696-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R5108 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 96603700-96613386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96612253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 561 (L561P)
Ref Sequence ENSEMBL: ENSMUSP00000102691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029742] [ENSMUST00000064900] [ENSMUST00000107076] [ENSMUST00000107077] [ENSMUST00000176302] [ENSMUST00000171249] [ENSMUST00000200387] [ENSMUST00000162934]
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 possibly damaging
Transcript: ENSMUST00000064900
AA Change: L570P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: L570P

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 possibly damaging
Transcript: ENSMUST00000107076
AA Change: L561P

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: L561P

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 possibly damaging
Transcript: ENSMUST00000107077
AA Change: L535P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101
AA Change: L535P

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 noncoding transcript
Transcript: ENSMUST00000161296
Predicted Effect probably benign
Transcript: ENSMUST00000162156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176288
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: 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: ENSMUST00000200387
SMART Domains Protein: ENSMUSP00000142879
Gene: ENSMUSG00000028100

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:NUDIX 79 125 4.2e-6 PFAM
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
Meta Mutation Damage Score 0.0874 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,094,207 (GRCm39) N94Y probably damaging Het
Ak2 A G 4: 128,896,034 (GRCm39) T104A probably damaging Het
Alox12b G T 11: 69,048,208 (GRCm39) A46S probably benign Het
Ank1 G T 8: 23,622,571 (GRCm39) V1662F probably benign Het
Anxa3 T C 5: 96,978,273 (GRCm39) I219T possibly damaging Het
Aoc1l3 C T 6: 48,965,504 (GRCm39) T504I probably damaging Het
Arhgap40 G A 2: 158,389,599 (GRCm39) V588M probably damaging Het
Arhgef38 T C 3: 132,843,029 (GRCm39) T514A probably benign Het
Ascl4 C A 10: 85,764,422 (GRCm39) A23E probably benign Het
Bcl11b T C 12: 107,931,985 (GRCm39) T196A probably benign Het
C1ra A T 6: 124,499,881 (GRCm39) Y689F probably damaging Het
Ccr3 A G 9: 123,828,968 (GRCm39) N101S probably benign Het
Cep70 A T 9: 99,145,865 (GRCm39) probably null Het
Ces1b A G 8: 93,798,541 (GRCm39) V215A probably damaging Het
Cndp1 A T 18: 84,650,186 (GRCm39) I169N probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo2 A G 4: 148,250,486 (GRCm39) Q275R probably damaging Het
Fbxo44 T C 4: 148,243,020 (GRCm39) N133S probably damaging Het
Fzr1 C T 10: 81,205,284 (GRCm39) probably benign Het
Grn T C 11: 102,325,228 (GRCm39) S213P probably benign Het
Ifi203 A T 1: 173,751,580 (GRCm39) C414S probably damaging Het
Igfn1 C T 1: 135,910,179 (GRCm39) R135H probably benign Het
Kcnk10 T C 12: 98,401,560 (GRCm39) M358V probably benign Het
Kcnn2 A T 18: 45,725,122 (GRCm39) Y471F probably damaging Het
Klhl20 A T 1: 160,926,820 (GRCm39) V391E probably damaging Het
Krt1c C T 15: 101,721,721 (GRCm39) G440D possibly damaging Het
Lpin1 A T 12: 16,623,716 (GRCm39) Y223N probably benign Het
Luzp2 G A 7: 54,915,038 (GRCm39) C321Y probably damaging Het
Mcm3ap T C 10: 76,338,536 (GRCm39) V1388A probably benign Het
Mdga2 A T 12: 66,533,515 (GRCm39) H223Q probably benign Het
Mgat4e G T 1: 134,468,961 (GRCm39) P361Q probably benign Het
Mylk3 A T 8: 86,085,721 (GRCm39) I208N possibly damaging Het
Myom2 T A 8: 15,182,667 (GRCm39) V1368E probably damaging Het
Mypn C T 10: 62,972,073 (GRCm39) D656N probably damaging Het
Nat10 C A 2: 103,562,548 (GRCm39) R596L probably damaging Het
Nek8 T C 11: 78,063,353 (GRCm39) D137G probably damaging Het
Neurl1a A G 19: 47,246,074 (GRCm39) K552E probably damaging Het
Npdc1 C T 2: 25,298,667 (GRCm39) H260Y probably damaging Het
Nuggc A T 14: 65,876,129 (GRCm39) I581F probably damaging Het
Or8d23 T A 9: 38,842,151 (GRCm39) I228N probably damaging Het
P2rx6 T C 16: 17,380,037 (GRCm39) Y54H probably damaging Het
Pcmtd2 A G 2: 181,486,216 (GRCm39) E112G probably damaging Het
Pcnx4 G A 12: 72,620,855 (GRCm39) V892I probably benign Het
Pdss1 T A 2: 22,796,895 (GRCm39) V136E possibly damaging Het
Pomgnt1 G A 4: 116,013,453 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Sec24d T A 3: 123,099,434 (GRCm39) probably null Het
Sftpb T G 6: 72,281,640 (GRCm39) L11R probably damaging Het
Slc22a19 A G 19: 7,688,536 (GRCm39) I8T probably benign Het
Slc22a30 A G 19: 8,363,790 (GRCm39) S266P probably damaging Het
Slc36a2 C A 11: 55,050,214 (GRCm39) G465W probably damaging Het
Slc4a2 G A 5: 24,644,331 (GRCm39) M976I probably damaging Het
Smcr8 C T 11: 60,670,696 (GRCm39) Q615* probably null Het
Sobp T C 10: 43,036,815 (GRCm39) E41G probably damaging Het
Spopfm1 C T 3: 94,173,142 (GRCm39) S50L probably damaging Het
Spz1 A T 13: 92,711,554 (GRCm39) C307* probably null Het
Sult1d1 C T 5: 87,711,728 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,668 (GRCm39) M233T probably damaging Het
Tmc3 C A 7: 83,269,156 (GRCm39) S781R probably damaging Het
Tmem234 G T 4: 129,495,730 (GRCm39) probably benign Het
Trpm3 A T 19: 22,882,078 (GRCm39) Q645L probably benign Het
Ttn C A 2: 76,565,055 (GRCm39) V28391F probably damaging Het
Txnrd3 G T 6: 89,650,016 (GRCm39) A425S probably benign Het
Ubr1 C T 2: 120,793,903 (GRCm39) G94R probably benign Het
Ufl1 A G 4: 25,269,026 (GRCm39) probably null Het
Utp20 T C 10: 88,604,735 (GRCm39) D1720G probably benign Het
Vmn1r13 T A 6: 57,186,901 (GRCm39) M20K probably benign Het
Vmn1r61 A G 7: 5,613,519 (GRCm39) I265T probably benign Het
Zfp120 T C 2: 149,961,862 (GRCm39) T29A probably damaging 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
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
R7235:Pias3 UTSW 3 96,611,679 (GRCm39) missense probably benign
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'- TATGATCCCTGAGGGCTGGTAC -3'
(R):5'- GGGGCCAATGGAGATTGATTTC -3'

Sequencing Primer
(F):5'- TGGTACCCCACGAGGTG -3'
(R):5'- AGCTCAGTCCAAGGAAATGACGTC -3'
Posted On 2016-06-15