Incidental Mutation 'IGL01370:Pias3'
ID76102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pias3
Ensembl Gene ENSMUSG00000028101
Gene Nameprotein inhibitor of activated STAT 3
SynonymsPias3L
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.642) question?
Stock #IGL01370
Quality Score
Status
Chromosome3
Chromosomal Location96696384-96706070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96703575 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 364 (F364L)
Ref Sequence ENSEMBL: ENSMUSP00000102692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029742] [ENSMUST00000064900] [ENSMUST00000107076] [ENSMUST00000107077] [ENSMUST00000162778] [ENSMUST00000162934] [ENSMUST00000171249] [ENSMUST00000176302] [ENSMUST00000200387]
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: F399L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: F399L

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: F390L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: F390L

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 damaging
Transcript: ENSMUST00000107077
AA Change: F364L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101
AA Change: F364L

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: ENSMUST00000162707
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 possibly damaging
Transcript: ENSMUST00000162934
AA Change: F390L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101
AA Change: F390L

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 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 noncoding transcript
Transcript: ENSMUST00000196773
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
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 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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,947,755 I1283N probably benign Het
Adck1 A T 12: 88,456,733 probably benign Het
Add1 C T 5: 34,630,515 T210I probably damaging Het
Alpk2 A T 18: 65,350,591 D115E possibly damaging Het
Ankrd36 C T 11: 5,584,019 T290I probably benign Het
Ccnt2 T C 1: 127,803,513 F709S possibly damaging Het
Erc1 T C 6: 119,824,465 E197G probably damaging Het
Ftsj3 G T 11: 106,252,319 R390S possibly damaging Het
Gabrb3 G A 7: 57,816,478 A347T probably benign Het
Gatsl2 T C 5: 134,138,272 V323A probably benign Het
Gde1 A G 7: 118,689,160 probably benign Het
Gm996 T C 2: 25,578,957 E314G possibly damaging Het
Jhy A T 9: 40,917,142 N489K probably benign Het
Kiss1r A G 10: 79,918,824 T51A probably benign Het
Lama5 T C 2: 180,197,400 S772G possibly damaging Het
Lamb2 G T 9: 108,487,733 probably null Het
Loxl3 A G 6: 83,049,487 T475A probably damaging Het
Lpl A T 8: 68,887,568 S72C possibly damaging Het
Lrrc74a A T 12: 86,754,430 I352F probably damaging Het
Mcoln2 T C 3: 146,181,830 I334T possibly damaging Het
Mettl8 T G 2: 70,982,039 D49A probably damaging Het
Ms4a3 T A 19: 11,632,881 T106S probably benign Het
Obscn T A 11: 58,995,563 probably null Het
Olfr108 C A 17: 37,445,714 H64Q probably benign Het
Olfr113 T C 17: 37,574,521 I301V probably null Het
Olfr1461 A T 19: 13,165,299 Y95F possibly damaging Het
Olfr406 G A 11: 74,269,499 V37I probably benign Het
Olfr732 G T 14: 50,282,232 T7K probably damaging Het
Pcnx2 T C 8: 125,801,483 K1333E probably damaging Het
Piezo2 T A 18: 63,022,460 I2438F probably damaging Het
Plcb3 A C 19: 6,962,824 V465G probably damaging Het
Plekho2 G T 9: 65,558,630 H159N probably damaging Het
Polr2e A G 10: 80,036,847 probably benign Het
Rab6b G T 9: 103,163,895 V163L probably benign Het
Rabep1 A G 11: 70,925,781 M597V probably benign Het
Rbm15 A G 3: 107,331,010 S691P probably damaging Het
Sec24b G A 3: 130,007,604 probably benign Het
Slc6a18 A G 13: 73,667,031 I386T probably damaging Het
Stxbp3 A C 3: 108,797,425 Y497* probably null Het
Styk1 T C 6: 131,301,652 K353R probably damaging Het
Tbc1d10b A T 7: 127,199,081 H629Q probably damaging Het
Tbc1d5 T A 17: 50,966,727 I119F probably benign Het
Tcp11l1 G T 2: 104,706,486 D11E probably benign Het
Tfap2d A G 1: 19,104,785 Y154C probably damaging Het
Tgm5 T C 2: 121,053,537 N325S probably benign Het
Thbs2 T C 17: 14,690,065 K91E possibly damaging Het
Vmn2r26 T A 6: 124,061,756 F763L probably benign Het
Washc4 A G 10: 83,558,830 E308G probably damaging Het
Xpot C A 10: 121,604,494 A611S probably benign Het
Other mutations in Pias3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Pias3 APN 3 96699422 splice site probably benign
IGL01806:Pias3 APN 3 96703757 missense probably benign 0.02
IGL02533:Pias3 APN 3 96699616 missense possibly damaging 0.71
IGL02998:Pias3 APN 3 96702179 missense probably damaging 0.98
IGL03304:Pias3 APN 3 96700031 missense possibly damaging 0.65
R0764:Pias3 UTSW 3 96701295 missense probably damaging 1.00
R1611:Pias3 UTSW 3 96699697 unclassified probably null
R1697:Pias3 UTSW 3 96702225 missense probably damaging 1.00
R1751:Pias3 UTSW 3 96701403 missense probably damaging 1.00
R1767:Pias3 UTSW 3 96701403 missense probably damaging 1.00
R2184:Pias3 UTSW 3 96702221 missense possibly damaging 0.92
R2257:Pias3 UTSW 3 96699646 missense probably benign 0.22
R2398:Pias3 UTSW 3 96703813 missense probably benign 0.00
R2851:Pias3 UTSW 3 96703537 missense possibly damaging 0.94
R3845:Pias3 UTSW 3 96702210 missense probably benign 0.28
R4127:Pias3 UTSW 3 96699666 missense probably damaging 0.97
R4500:Pias3 UTSW 3 96701418 missense probably damaging 1.00
R4628:Pias3 UTSW 3 96699820 missense probably damaging 1.00
R5068:Pias3 UTSW 3 96703855 missense probably damaging 0.98
R5108:Pias3 UTSW 3 96704937 missense possibly damaging 0.88
R5477:Pias3 UTSW 3 96705003 missense probably damaging 0.99
R5498:Pias3 UTSW 3 96702188 missense possibly damaging 0.89
R6457:Pias3 UTSW 3 96699523 missense possibly damaging 0.81
R6966:Pias3 UTSW 3 96702195 missense probably damaging 0.99
Posted On2013-10-07