Incidental Mutation 'IGL01790:Pias4'
ID155190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pias4
Ensembl Gene ENSMUSG00000004934
Gene Nameprotein inhibitor of activated STAT 4
SynonymsPIASy
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.877) question?
Stock #IGL01790
Quality Score
Status
Chromosome10
Chromosomal Location81153266-81167923 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81157498 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 197 (Q197R)
Ref Sequence ENSEMBL: ENSMUSP00000005064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005064] [ENSMUST00000121840] [ENSMUST00000135765]
Predicted Effect probably damaging
Transcript: ENSMUST00000005064
AA Change: Q197R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005064
Gene: ENSMUSG00000004934
AA Change: Q197R

DomainStartEndE-ValueType
SAP 12 46 4.44e-7 SMART
Pfam:PINIT 123 270 9.6e-35 PFAM
Pfam:zf-MIZ 315 364 2.4e-24 PFAM
low complexity region 429 454 N/A INTRINSIC
low complexity region 469 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121840
SMART Domains Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011

DomainStartEndE-ValueType
BTB 34 131 5.01e-30 SMART
low complexity region 195 205 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
low complexity region 245 261 N/A INTRINSIC
low complexity region 267 289 N/A INTRINSIC
low complexity region 297 314 N/A INTRINSIC
ZnF_C2H2 376 398 7.55e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134017
Predicted Effect probably benign
Transcript: ENSMUST00000135765
SMART Domains Protein: ENSMUSP00000121361
Gene: ENSMUSG00000004934

DomainStartEndE-ValueType
PDB:4FO9|A 1 70 9e-15 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000146764
AA Change: Q197R

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122183
Gene: ENSMUSG00000004934
AA Change: Q197R

DomainStartEndE-ValueType
SAP 12 46 4.44e-7 SMART
Pfam:PINIT 119 270 1.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147436
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants display mild postnatal lethality or a normal phenotype depending on strain background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap8 A C 15: 84,767,214 I288L possibly damaging Het
Astn1 T C 1: 158,580,327 I618T possibly damaging Het
Bod1l T C 5: 41,832,250 S377G probably benign Het
Disp2 A T 2: 118,790,880 S698C probably damaging Het
Ehbp1l1 A G 19: 5,722,984 V43A probably damaging Het
Eml5 G T 12: 98,798,932 T1539K probably damaging Het
Fmnl2 T C 2: 53,118,368 I824T probably damaging Het
Gpr75 T G 11: 30,891,132 N12K probably damaging Het
Hap1 C T 11: 100,351,906 probably null Het
Helz2 A C 2: 181,238,481 Y481D probably benign Het
Klhl3 T C 13: 58,009,422 probably null Het
Lrcol1 A G 5: 110,354,207 S49G probably damaging Het
Magi3 A G 3: 104,085,244 M304T probably damaging Het
Med13l T C 5: 118,593,522 W88R probably damaging Het
Nfatc1 A G 18: 80,667,042 V503A probably damaging Het
Ntm C A 9: 29,411,590 V45L probably benign Het
Olfr1184 T A 2: 88,486,926 S65T possibly damaging Het
Olfr1186 A G 2: 88,526,423 N280S probably damaging Het
Olfr1313 T A 2: 112,071,921 I221L probably benign Het
Olfr1471 A G 19: 13,445,162 D50G probably damaging Het
Olfr19 T C 16: 16,673,103 R293G probably damaging Het
Pkhd1 T A 1: 20,558,671 H684L probably damaging Het
Psmb3 T A 11: 97,712,510 M183K probably damaging Het
Rasal1 T C 5: 120,670,318 F472L possibly damaging Het
Rpl3 A T 15: 80,079,860 probably benign Het
Scin A T 12: 40,063,257 D538E probably benign Het
Sdhb T C 4: 140,973,727 S165P probably benign Het
Slc43a2 C A 11: 75,545,751 probably null Het
Sparc C T 11: 55,407,215 probably null Het
Tcf25 A G 8: 123,393,236 E382G possibly damaging Het
Tmx3 G A 18: 90,511,334 probably null Het
Trim24 C T 6: 37,945,613 P452S probably benign Het
Vsig10 T A 5: 117,338,314 W278R probably damaging Het
Other mutations in Pias4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Pias4 APN 10 81155658 missense probably benign 0.07
IGL02553:Pias4 APN 10 81163787 missense probably damaging 1.00
IGL02670:Pias4 APN 10 81164070 missense probably damaging 0.99
petrified_forest UTSW 10 81155855 missense probably damaging 1.00
R0083:Pias4 UTSW 10 81164166 missense probably damaging 1.00
R0122:Pias4 UTSW 10 81157087 missense probably damaging 0.96
R0711:Pias4 UTSW 10 81157530 unclassified probably benign
R1399:Pias4 UTSW 10 81155675 missense probably damaging 1.00
R1726:Pias4 UTSW 10 81155855 missense probably damaging 1.00
R1907:Pias4 UTSW 10 81154363 missense possibly damaging 0.46
R3730:Pias4 UTSW 10 81164054 missense probably damaging 0.98
R4764:Pias4 UTSW 10 81164034 missense possibly damaging 0.88
R4790:Pias4 UTSW 10 81157492 missense probably damaging 0.98
R4808:Pias4 UTSW 10 81155840 splice site probably null
R6351:Pias4 UTSW 10 81157264 missense probably damaging 1.00
R6786:Pias4 UTSW 10 81157246 missense probably damaging 1.00
R7113:Pias4 UTSW 10 81154453 missense possibly damaging 0.94
R7260:Pias4 UTSW 10 81157468 missense possibly damaging 0.95
R7487:Pias4 UTSW 10 81163972 missense probably benign
R7609:Pias4 UTSW 10 81158026 splice site probably null
R8224:Pias4 UTSW 10 81167731 start gained probably benign
R8387:Pias4 UTSW 10 81154508 missense probably benign
Posted On2014-02-04