Incidental Mutation 'IGL02198:Pabpc1l'
ID284116
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 #IGL02198
Quality Score
Status
Chromosome2
Chromosomal Location164025450-164050538 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164027616 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 112 (N112S)
Ref Sequence ENSEMBL: ENSMUSP00000096701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067715]
Predicted Effect probably damaging
Transcript: ENSMUST00000067715
AA Change: N112S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: N112S

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,546,492 I381T probably damaging Het
Armt1 T A 10: 4,454,064 F383Y possibly damaging Het
Cdca2 A G 14: 67,694,996 V486A probably benign Het
Cep78 A G 19: 15,956,369 L615S probably damaging Het
Clec2h C A 6: 128,674,016 C86* probably null Het
Cntnap5a C T 1: 116,580,532 T1258I probably benign Het
Dhrs7c T A 11: 67,815,802 M262K possibly damaging Het
Dmpk C A 7: 19,088,192 F332L probably damaging Het
Dyx1c1 G A 9: 72,969,066 V308I probably benign Het
Fap A G 2: 62,554,798 F73L probably benign Het
Igsf10 A T 3: 59,325,978 I1778N possibly damaging Het
Il6ra T C 3: 89,890,348 T71A probably benign Het
Itpr2 C A 6: 146,323,227 A1389S probably damaging Het
Mob3b T C 4: 35,083,983 N69D probably damaging Het
Nr1h3 A G 2: 91,192,725 W21R probably damaging Het
Olfr1305 A T 2: 111,873,248 N202K probably damaging Het
Ovca2 A G 11: 75,178,770 V9A possibly damaging Het
Ovch2 T A 7: 107,794,834 K137N probably damaging Het
Plekho1 T A 3: 95,992,184 N99I probably damaging Het
Recql5 A C 11: 115,894,673 S666A probably benign Het
Scn3a G T 2: 65,508,489 H615Q probably benign Het
Sel1l3 A G 5: 53,139,799 probably benign Het
Slc38a2 A T 15: 96,692,377 S328T probably damaging Het
Taok1 T C 11: 77,575,677 probably benign Het
Tsnax T A 8: 125,032,712 Y237* probably null Het
Ttn T A 2: 76,714,630 K24382N probably damaging Het
Ugt1a9 T A 1: 88,071,443 V205E possibly damaging Het
Unc80 C A 1: 66,529,986 D933E possibly damaging Het
Vnn1 A T 10: 23,903,425 T411S probably benign Het
Wdr27 C A 17: 14,908,598 G531V possibly damaging Het
Zfp760 G T 17: 21,722,212 V123L probably benign Het
Other mutations in Pabpc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Pabpc1l APN 2 164042317 missense probably damaging 1.00
IGL00911:Pabpc1l APN 2 164042423 missense probably damaging 1.00
IGL02096:Pabpc1l APN 2 164044347 missense probably benign 0.00
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 On2015-04-16