Incidental Mutation 'R5498:Pias3'
ID 432458
Institutional Source Beutler Lab
Gene Symbol Pias3
Ensembl Gene ENSMUSG00000028101
Gene Name protein inhibitor of activated STAT 3
Synonyms Pias3L
MMRRC Submission 043059-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R5498 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96603700-96613386 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96609504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 274 (T274A)
Ref Sequence ENSEMBL: ENSMUSP00000102692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029742] [ENSMUST00000064900] [ENSMUST00000107076] [ENSMUST00000107077] [ENSMUST00000162934] [ENSMUST00000200387] [ENSMUST00000176302] [ENSMUST00000171249] [ENSMUST00000162778]
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: T309A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: T309A

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: T300A

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: T300A

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: T274A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101
AA Change: T274A

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 possibly damaging
Transcript: ENSMUST00000162934
AA Change: T300A

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101
AA Change: T300A

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 noncoding transcript
Transcript: ENSMUST00000176288
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
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: ENSMUST00000162778
SMART Domains Protein: ENSMUSP00000125377
Gene: ENSMUSG00000028101

DomainStartEndE-ValueType
SAP 2 36 3.75e-5 SMART
low complexity region 61 84 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.8%
  • 20x: 89.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T A 5: 109,885,413 (GRCm39) K148N probably benign Het
Abca6 T A 11: 110,099,670 (GRCm39) D959V possibly damaging Het
Acot12 T C 13: 91,929,352 (GRCm39) V393A probably damaging Het
Ano3 C A 2: 110,527,448 (GRCm39) V587F possibly damaging Het
Bub1 T C 2: 127,656,629 (GRCm39) D471G possibly damaging Het
Cdh15 G T 8: 123,591,917 (GRCm39) V601F possibly damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Cnot1 A T 8: 96,483,983 (GRCm39) I706N possibly damaging Het
Fbn1 A G 2: 125,202,096 (GRCm39) I1259T probably damaging Het
Furin A T 7: 80,041,542 (GRCm39) W539R probably damaging Het
Hivep1 A T 13: 42,276,634 (GRCm39) probably null Het
Igkv3-9 A G 6: 70,565,727 (GRCm39) M109V probably benign Het
Klf10 G A 15: 38,296,283 (GRCm39) R421W probably damaging Het
Mtor A T 4: 148,624,821 (GRCm39) Y2144F possibly damaging Het
Mybpc2 T C 7: 44,165,689 (GRCm39) Y297C probably damaging Het
Myom2 G A 8: 15,179,142 (GRCm39) E1325K probably benign Het
Nsd1 A T 13: 55,361,115 (GRCm39) K28* probably null Het
Or2r11 C T 6: 42,437,228 (GRCm39) A242T probably benign Het
Or51b4 T G 7: 103,530,839 (GRCm39) T204P probably damaging Het
Phc2 C A 4: 128,602,787 (GRCm39) N120K probably benign Het
Plcb4 T A 2: 135,818,092 (GRCm39) I786N probably damaging Het
Plec G A 15: 76,061,654 (GRCm39) S2626L probably damaging Het
Polg A G 7: 79,104,418 (GRCm39) L819P probably damaging Het
Ppp2r3d T C 9: 124,439,123 (GRCm38) probably benign Het
Resf1 A G 6: 149,229,738 (GRCm39) D928G probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnpc3 A G 3: 113,404,856 (GRCm39) probably null Het
Sarnp T A 10: 128,689,063 (GRCm39) D65E probably benign Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc16a10 C T 10: 39,913,323 (GRCm39) V462M probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn5 A T 11: 82,847,973 (GRCm39) H286L possibly damaging Het
Spag17 G A 3: 100,010,661 (GRCm39) A2052T possibly damaging Het
Sptbn5 A T 2: 119,907,119 (GRCm39) probably benign Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Trim45 T C 3: 100,832,457 (GRCm39) V230A possibly damaging Het
Ube3b T C 5: 114,556,635 (GRCm39) F989L probably damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wdr24 A G 17: 26,043,535 (GRCm39) H119R probably damaging Het
Yars2 T A 16: 16,124,387 (GRCm39) H331Q possibly damaging Het
Zscan21 T C 5: 138,131,522 (GRCm39) S349P probably benign 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
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'- TGCATTGTCTAAGCATCTTCAGG -3'
(R):5'- AAACTCTGCAGATGGGCACAG -3'

Sequencing Primer
(F):5'- TCTAAGCATCTTCAGGGACGCAG -3'
(R):5'- ACAGTCAGGCGCATCTTC -3'
Posted On 2016-10-05