Incidental Mutation 'IGL01602:Pabpc1'
ID278761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pabpc1
Ensembl Gene ENSMUSG00000022283
Gene Namepoly(A) binding protein, cytoplasmic 1
SynonymsPabp1, Pabpl1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.500) question?
Stock #IGL01602
Quality Score
Status
Chromosome15
Chromosomal Location36595661-36609668 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36599306 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 382 (Y382H)
Ref Sequence ENSEMBL: ENSMUSP00000001809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001809]
Predicted Effect probably benign
Transcript: ENSMUST00000001809
AA Change: Y382H

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000001809
Gene: ENSMUSG00000022283
AA Change: Y382H

DomainStartEndE-ValueType
RRM 12 85 6.86e-22 SMART
RRM 100 171 2.72e-25 SMART
RRM 192 264 5.39e-29 SMART
RRM 295 366 5.83e-25 SMART
low complexity region 455 462 N/A INTRINSIC
low complexity region 492 509 N/A INTRINSIC
PolyA 554 617 6.9e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147116
Predicted Effect probably benign
Transcript: ENSMUST00000155116
SMART Domains Protein: ENSMUSP00000117063
Gene: ENSMUSG00000022283

DomainStartEndE-ValueType
PolyA 36 99 6.9e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226867
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 poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3' poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A T 7: 66,888,411 M242L probably benign Het
Brip1 T A 11: 86,062,004 T984S possibly damaging Het
Cdh17 T C 4: 11,795,670 Y417H probably damaging Het
Chd7 T A 4: 8,833,834 I1196N probably damaging Het
Cyp3a57 T C 5: 145,387,044 F447S probably damaging Het
Dnah12 C T 14: 26,710,275 probably benign Het
Dock8 C T 19: 25,089,888 probably benign Het
Fam163b A G 2: 27,112,676 F103S probably damaging Het
G0s2 A G 1: 193,272,656 L40P probably damaging Het
Gm2046 A T 12: 87,973,760 noncoding transcript Het
Gucy1b1 C T 3: 82,035,353 R494Q probably benign Het
Hsd17b1 T C 11: 101,078,929 V89A probably damaging Het
Iqcg T C 16: 33,016,978 probably benign Het
Lmo7 T C 14: 101,910,756 probably benign Het
Mmp17 A G 5: 129,601,944 D331G probably benign Het
Mnx1 T C 5: 29,477,593 D228G unknown Het
Msantd2 A G 9: 37,517,440 E101G probably benign Het
Msh2 T C 17: 87,696,489 probably benign Het
Prl7b1 A G 13: 27,602,044 S214P possibly damaging Het
Rbpj-ps3 T C 6: 46,530,091 probably benign Het
Sgsm1 A T 5: 113,285,665 M162K possibly damaging Het
Skint2 A G 4: 112,625,994 T199A probably benign Het
Slc24a1 T A 9: 64,926,181 D1044V probably damaging Het
Stim1 A G 7: 102,386,115 D100G possibly damaging Het
Taar5 C T 10: 23,971,064 T120I probably benign Het
Trhde A G 10: 114,787,943 V352A probably benign Het
Ubap2 T A 4: 41,227,237 D160V probably damaging Het
Vmn2r18 A G 5: 151,586,641 V89A possibly damaging Het
Wbp1l A G 19: 46,654,400 D264G possibly damaging Het
Other mutations in Pabpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01605:Pabpc1 APN 15 36599306 missense probably benign 0.36
IGL01973:Pabpc1 APN 15 36599275 missense probably benign 0.13
R0309:Pabpc1 UTSW 15 36597493 missense possibly damaging 0.93
R0667:Pabpc1 UTSW 15 36598031 missense probably benign
R0883:Pabpc1 UTSW 15 36599054 unclassified probably benign
R1682:Pabpc1 UTSW 15 36605541 missense possibly damaging 0.75
R1749:Pabpc1 UTSW 15 36608340 missense probably damaging 1.00
R4731:Pabpc1 UTSW 15 36599284 missense probably benign 0.21
R4732:Pabpc1 UTSW 15 36599284 missense probably benign 0.21
R4733:Pabpc1 UTSW 15 36599284 missense probably benign 0.21
R4825:Pabpc1 UTSW 15 36597011 missense probably damaging 0.98
R5324:Pabpc1 UTSW 15 36600625 missense probably damaging 1.00
R5328:Pabpc1 UTSW 15 36602877 missense probably benign 0.03
R5711:Pabpc1 UTSW 15 36605830 missense probably benign 0.03
R6073:Pabpc1 UTSW 15 36600651 missense probably damaging 0.97
R6751:Pabpc1 UTSW 15 36597534 missense possibly damaging 0.71
Posted On2015-04-16