Incidental Mutation 'IGL01973:Pabpc1'
ID 182579
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pabpc1
Ensembl Gene ENSMUSG00000022283
Gene Name poly(A) binding protein, cytoplasmic 1
Synonyms Pabpl1, Pabp1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.541) question?
Stock # IGL01973
Quality Score
Status
Chromosome 15
Chromosomal Location 36595902-36609825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36599519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 392 (V392E)
Ref Sequence ENSEMBL: ENSMUSP00000001809 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001809]
AlphaFold P29341
Predicted Effect probably benign
Transcript: ENSMUST00000001809
AA Change: V392E

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000001809
Gene: ENSMUSG00000022283
AA Change: V392E

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,061,172 (GRCm39) W59R probably damaging Het
Adam17 C T 12: 21,399,944 (GRCm39) R154K probably damaging Het
Ajm1 G T 2: 25,469,584 (GRCm39) S109* probably null Het
Atp9b A T 18: 80,801,518 (GRCm39) F791I probably benign Het
Atr T G 9: 95,753,727 (GRCm39) S776R probably damaging Het
AW554918 A T 18: 25,553,056 (GRCm39) T487S probably damaging Het
Bckdhb T A 9: 83,873,789 (GRCm39) F217Y probably benign Het
Cacna1i G A 15: 80,266,234 (GRCm39) A1574T probably damaging Het
Ccdc150 G A 1: 54,339,647 (GRCm39) probably null Het
Clca4c-ps A T 3: 144,585,593 (GRCm39) noncoding transcript Het
Clec4a1 T C 6: 122,907,680 (GRCm39) S123P probably damaging Het
Col6a4 T C 9: 105,940,093 (GRCm39) Y1279C probably damaging Het
Cox8c T A 12: 102,865,626 (GRCm39) M1K probably null Het
Crat G T 2: 30,295,493 (GRCm39) S370Y probably damaging Het
Cts7 A T 13: 61,503,414 (GRCm39) D183E probably benign Het
Cyp1a2 C A 9: 57,589,678 (GRCm39) W45C probably damaging Het
Eml5 T A 12: 98,829,539 (GRCm39) I492L probably benign Het
Fbxl4 T G 4: 22,422,766 (GRCm39) L456R probably damaging Het
Flt1 G T 5: 147,620,699 (GRCm39) H148Q probably benign Het
Galnt3 T C 2: 65,914,606 (GRCm39) M604V probably benign Het
Gatb T C 3: 85,518,731 (GRCm39) V279A probably damaging Het
Heatr1 C A 13: 12,444,680 (GRCm39) H1543Q probably benign Het
Ighg2b C T 12: 113,271,305 (GRCm39) V83I unknown Het
Jcad A G 18: 4,675,514 (GRCm39) Q1092R probably benign Het
Kirrel3 A G 9: 34,927,764 (GRCm39) E6G probably damaging Het
Klhl22 A G 16: 17,610,575 (GRCm39) S609G probably benign Het
Kntc1 A G 5: 123,904,021 (GRCm39) Y346C probably damaging Het
Maneal T C 4: 124,752,948 (GRCm39) D233G probably benign Het
Mcm3ap T C 10: 76,306,951 (GRCm39) S355P probably benign Het
Mtus2 C T 5: 148,240,286 (GRCm39) probably benign Het
Muc4 A G 16: 32,575,383 (GRCm39) T1380A probably benign Het
Nedd4 T A 9: 72,644,216 (GRCm39) M661K possibly damaging Het
Nomo1 T C 7: 45,732,651 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,689 (GRCm39) I98T probably benign Het
Ntsr2 T A 12: 16,706,775 (GRCm39) W268R probably benign Het
Nup188 A C 2: 30,229,862 (GRCm39) Q1360P possibly damaging Het
Or2c1 A T 16: 3,657,641 (GRCm39) Q268L probably damaging Het
Or6k6 A G 1: 173,945,099 (GRCm39) F161S probably damaging Het
Pcdhb11 C A 18: 37,556,565 (GRCm39) R632S probably damaging Het
Phf11 A G 14: 59,488,578 (GRCm39) V73A probably benign Het
Pnpla6 T A 8: 3,567,619 (GRCm39) M87K probably damaging Het
Prkd1 C T 12: 50,413,162 (GRCm39) G670R probably damaging Het
Raf1 G A 6: 115,653,530 (GRCm39) probably benign Het
Rapgef2 T A 3: 78,999,116 (GRCm39) probably null Het
Rnf215 A T 11: 4,086,615 (GRCm39) H164L probably damaging Het
Slc24a3 T C 2: 145,086,947 (GRCm39) V19A probably benign Het
Tbc1d16 A T 11: 119,047,533 (GRCm39) V396E probably benign Het
Tecpr1 T C 5: 144,134,806 (GRCm39) probably benign Het
Thap12 T A 7: 98,365,706 (GRCm39) Y625N possibly damaging Het
Tshz2 A T 2: 169,726,603 (GRCm39) M400L probably damaging Het
Ttc28 A G 5: 111,372,101 (GRCm39) Y850C possibly damaging Het
Ugt1a7c A G 1: 88,022,856 (GRCm39) D5G probably benign Het
Vmn2r10 C T 5: 109,143,543 (GRCm39) M802I probably damaging Het
Washc4 T C 10: 83,391,973 (GRCm39) Y220H probably damaging Het
Zfhx3 T A 8: 109,673,825 (GRCm39) M1625K probably damaging Het
Zfp677 T A 17: 21,617,169 (GRCm39) N75K probably damaging Het
Zzz3 T C 3: 152,134,007 (GRCm39) V355A probably benign Het
Other mutations in Pabpc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01602:Pabpc1 APN 15 36,599,550 (GRCm39) missense probably benign 0.36
IGL01605:Pabpc1 APN 15 36,599,550 (GRCm39) missense probably benign 0.36
R0309:Pabpc1 UTSW 15 36,597,737 (GRCm39) missense possibly damaging 0.93
R0667:Pabpc1 UTSW 15 36,598,275 (GRCm39) missense probably benign
R0883:Pabpc1 UTSW 15 36,599,298 (GRCm39) unclassified probably benign
R1682:Pabpc1 UTSW 15 36,605,785 (GRCm39) missense possibly damaging 0.75
R1749:Pabpc1 UTSW 15 36,608,584 (GRCm39) missense probably damaging 1.00
R4731:Pabpc1 UTSW 15 36,599,528 (GRCm39) missense probably benign 0.21
R4732:Pabpc1 UTSW 15 36,599,528 (GRCm39) missense probably benign 0.21
R4733:Pabpc1 UTSW 15 36,599,528 (GRCm39) missense probably benign 0.21
R4825:Pabpc1 UTSW 15 36,597,255 (GRCm39) missense probably damaging 0.98
R5324:Pabpc1 UTSW 15 36,600,869 (GRCm39) missense probably damaging 1.00
R5328:Pabpc1 UTSW 15 36,603,121 (GRCm39) missense probably benign 0.03
R5711:Pabpc1 UTSW 15 36,606,074 (GRCm39) missense probably benign 0.03
R6073:Pabpc1 UTSW 15 36,600,895 (GRCm39) missense probably damaging 0.97
R6751:Pabpc1 UTSW 15 36,597,778 (GRCm39) missense possibly damaging 0.71
R7632:Pabpc1 UTSW 15 36,598,212 (GRCm39) frame shift probably null
R8042:Pabpc1 UTSW 15 36,598,553 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07