Incidental Mutation 'IGL00480:Pabpc1l'
ID12893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pabpc1l
Ensembl Gene ENSMUSG00000054582
Gene Namepoly(A) binding protein, cytoplasmic 1-like
Synonyms1810053B01Rik, ePAB
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00480
Quality Score
Status
Chromosome2
Chromosomal Location164025450-164050538 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 164042317 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 325 (V325M)
Ref Sequence ENSEMBL: ENSMUSP00000096701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067715]
Predicted Effect probably damaging
Transcript: ENSMUST00000067715
AA Change: V325M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: V325M

DomainStartEndE-ValueType
RRM 12 85 2.3e-23 SMART
RRM 100 171 1.84e-22 SMART
RRM 192 264 2.31e-28 SMART
RRM 295 366 7.07e-24 SMART
SCOP:d1g9la_ 425 478 1e-6 SMART
PolyA 535 598 8.33e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156087
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c A T 2: 58,315,855 V31E probably damaging Het
Cdc6 T C 11: 98,908,771 V68A probably benign Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Gm5155 T A 7: 17,910,697 S580T probably benign Het
Gtf3c1 C T 7: 125,644,258 V1821I probably benign Het
Haus3 T C 5: 34,167,928 E129G probably benign Het
Ogfr T C 2: 180,593,562 probably benign Het
Pou6f1 A G 15: 100,580,047 probably benign Het
Ppp1r9a A T 6: 5,158,195 D1201V possibly damaging Het
Ppp6r2 A G 15: 89,265,249 probably benign Het
Scn5a G T 9: 119,517,538 P1016Q possibly damaging Het
Selenot T A 3: 58,586,082 probably benign Het
Smyd2 C T 1: 189,899,846 R107Q probably damaging Het
Tgoln1 T C 6: 72,616,090 K136E probably benign Het
Trio T C 15: 27,912,743 probably benign Het
Usp24 T C 4: 106,368,106 I645T probably damaging Het
Uts2r T A 11: 121,160,346 M12K probably benign Het
Zfp772 T C 7: 7,204,116 N192S probably benign Het
Other mutations in Pabpc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Pabpc1l APN 2 164042423 missense probably damaging 1.00
IGL02096:Pabpc1l APN 2 164044347 missense probably benign 0.00
IGL02198:Pabpc1l APN 2 164027616 missense probably damaging 0.97
IGL02534:Pabpc1l APN 2 164027490 missense probably damaging 1.00
IGL02684:Pabpc1l APN 2 164031277 missense probably benign
R0371:Pabpc1l UTSW 2 164035272 missense probably benign 0.08
R0799:Pabpc1l UTSW 2 164031214 missense probably benign
R1202:Pabpc1l UTSW 2 164037171 missense possibly damaging 0.74
R1203:Pabpc1l UTSW 2 164037171 missense possibly damaging 0.74
R1548:Pabpc1l UTSW 2 164037171 missense possibly damaging 0.74
R1549:Pabpc1l UTSW 2 164037171 missense possibly damaging 0.74
R1687:Pabpc1l UTSW 2 164044306 missense probably benign 0.00
R1928:Pabpc1l UTSW 2 164032254 missense possibly damaging 0.70
R2698:Pabpc1l UTSW 2 164044382 critical splice donor site probably null
R3925:Pabpc1l UTSW 2 164027676 splice site probably benign
R3944:Pabpc1l UTSW 2 164042327 missense probably damaging 1.00
R4052:Pabpc1l UTSW 2 164043613 missense probably benign 0.20
R4793:Pabpc1l UTSW 2 164027622 missense possibly damaging 0.94
R5001:Pabpc1l UTSW 2 164042518 missense probably benign 0.00
R5104:Pabpc1l UTSW 2 164043587 missense probably benign 0.00
R5456:Pabpc1l UTSW 2 164027660 missense probably damaging 1.00
R5569:Pabpc1l UTSW 2 164043554 missense probably benign 0.00
R5853:Pabpc1l UTSW 2 164049518 missense probably benign 0.00
R5857:Pabpc1l UTSW 2 164044255 splice site probably null
R7107:Pabpc1l UTSW 2 164042479 missense probably damaging 0.99
R7650:Pabpc1l UTSW 2 164049590 missense probably benign 0.28
T0722:Pabpc1l UTSW 2 164042420 missense possibly damaging 0.89
Z1088:Pabpc1l UTSW 2 164032324 splice site probably null
Posted On2012-12-06