Incidental Mutation 'IGL00911:Pabpc1l'
ID26854
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 #IGL00911
Quality Score
Status
Chromosome2
Chromosomal Location164025450-164050538 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 164042423 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 360 (T360K)
Ref Sequence ENSEMBL: ENSMUSP00000096701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067715]
Predicted Effect probably damaging
Transcript: ENSMUST00000067715
AA Change: T360K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: T360K

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: ENSMUST00000126272
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm T C 5: 90,525,591 V234A probably benign Het
Alas1 T A 9: 106,236,472 I525F probably benign Het
Ambra1 T A 2: 91,767,682 probably benign Het
Apbb2 G A 5: 66,451,512 T264M probably damaging Het
Arhgap40 A G 2: 158,534,716 probably benign Het
Chd9 C T 8: 91,051,692 P2793L probably damaging Het
Clstn1 T G 4: 149,643,191 probably benign Het
Cyp2f2 T C 7: 27,121,929 V13A probably damaging Het
Dnah1 C T 14: 31,304,434 probably null Het
Eogt A T 6: 97,120,000 V349E probably damaging Het
Epb41 T C 4: 131,989,784 D353G possibly damaging Het
Fam172a T A 13: 77,951,975 probably benign Het
Fbxo38 T A 18: 62,530,800 I207F possibly damaging Het
Frem2 T C 3: 53,572,462 S1937G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh3 G T 15: 99,233,001 G500* probably null Het
Khdc1b A T 1: 21,384,354 K94* probably null Het
Lpcat2 T C 8: 92,890,710 Y367H probably damaging Het
Lrrd1 A C 5: 3,865,689 N762T probably benign Het
Mbl2 T A 19: 30,238,394 D100E possibly damaging Het
Mthfr T G 4: 148,041,302 S31A probably benign Het
Nrp1 T A 8: 128,476,207 S558T probably benign Het
Nrxn3 T C 12: 90,204,592 L1254P probably damaging Het
Olfr693 A T 7: 106,677,833 Y218N probably damaging Het
Pcgf1 G A 6: 83,080,625 G92S probably damaging Het
Penk T C 4: 4,134,347 Y100C probably damaging Het
Pik3r1 T C 13: 101,757,661 probably benign Het
Pkhd1 T A 1: 20,117,747 T3446S probably benign Het
Plcg2 G A 8: 117,586,515 D473N probably benign Het
Poll G T 19: 45,553,601 T422K probably damaging Het
Skint3 T A 4: 112,255,909 probably benign Het
Stab2 C A 10: 86,969,753 C243F probably damaging Het
Supt6 T C 11: 78,231,181 E215G possibly damaging Het
Tas1r2 C A 4: 139,660,291 P354T probably benign Het
Tenm2 G A 11: 36,008,733 Q2533* probably null Het
Tmem121 C T 12: 113,188,231 A23V probably damaging Het
Other mutations in Pabpc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Pabpc1l APN 2 164042317 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 On2013-04-17