Incidental Mutation 'IGL00984:Pabpc6'
ID29368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pabpc6
Ensembl Gene ENSMUSG00000046173
Gene Namepoly(A) binding protein, cytoplasmic 6
Synonyms4932702K14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00984
Quality Score
Status
Chromosome17
Chromosomal Location9666497-9669704 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 9668689 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 311 (L311H)
Ref Sequence ENSEMBL: ENSMUSP00000050792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057190]
Predicted Effect probably damaging
Transcript: ENSMUST00000057190
AA Change: L311H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: L311H

DomainStartEndE-ValueType
RRM 12 85 1.78e-20 SMART
RRM 100 171 2.54e-25 SMART
RRM 192 264 1.08e-28 SMART
RRM 305 376 7.57e-24 SMART
low complexity region 500 511 N/A INTRINSIC
PolyA 561 624 3.28e-34 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,520,373 N531Y possibly damaging Het
Adamts12 G A 15: 11,215,610 R239K probably benign Het
Alppl2 T A 1: 87,088,812 H180L probably damaging Het
Atp10a T C 7: 58,658,741 V96A probably damaging Het
Atp2c1 T A 9: 105,418,579 I649F probably damaging Het
Atp6v1h A G 1: 5,095,682 Y125C probably damaging Het
Cds2 T C 2: 132,298,521 V213A probably benign Het
Csnk1a1 A G 18: 61,575,553 probably benign Het
Ctdspl2 C T 2: 121,969,286 probably benign Het
Dohh G A 10: 81,387,922 probably null Het
Dst A T 1: 34,256,320 D5971V probably damaging Het
Fam71e2 C T 7: 4,757,527 V729M probably damaging Het
Focad G T 4: 88,344,785 M1006I unknown Het
Iqgap1 T C 7: 80,726,798 D1322G probably damaging Het
Mcm3ap G T 10: 76,499,566 S1274I probably damaging Het
Mrpl42 C T 10: 95,490,340 V97I probably benign Het
Olfr1182 A T 2: 88,446,195 F248I probably damaging Het
Pdzrn3 A T 6: 101,354,486 S276T probably benign Het
Pi4ka A T 16: 17,358,932 C383* probably null Het
Pik3r6 A G 11: 68,533,619 D350G probably benign Het
Ptcd1 C T 5: 145,165,429 V27I probably benign Het
Ranbp2 A T 10: 58,461,964 R398* probably null Het
Rpl3l T C 17: 24,735,471 C336R probably damaging Het
Rxfp2 T C 5: 150,067,132 S443P probably benign Het
Sec24b T C 3: 130,020,646 probably benign Het
Sept11 T C 5: 93,162,184 M282T possibly damaging Het
Syt16 C T 12: 74,222,830 Q148* probably null Het
Timm23 A G 14: 32,180,655 I177T probably benign Het
Treh A G 9: 44,682,967 probably benign Het
Vmn1r71 A G 7: 10,748,119 V214A probably damaging Het
Zfp715 G A 7: 43,299,784 P251S probably benign Het
Other mutations in Pabpc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Pabpc6 APN 17 9668498 missense possibly damaging 0.80
IGL01123:Pabpc6 APN 17 9668147 missense probably benign 0.01
IGL01301:Pabpc6 APN 17 9667970 missense probably benign
IGL02347:Pabpc6 APN 17 9669064 missense probably benign 0.03
ANU18:Pabpc6 UTSW 17 9667970 missense probably benign
R0022:Pabpc6 UTSW 17 9669216 missense probably benign 0.19
R0022:Pabpc6 UTSW 17 9669216 missense probably benign 0.19
R1593:Pabpc6 UTSW 17 9667813 missense probably damaging 0.98
R1695:Pabpc6 UTSW 17 9668074 missense probably benign 0.01
R3897:Pabpc6 UTSW 17 9669127 missense probably benign 0.38
R3903:Pabpc6 UTSW 17 9669154 missense probably benign 0.16
R4585:Pabpc6 UTSW 17 9669073 missense probably damaging 1.00
R5009:Pabpc6 UTSW 17 9668560 missense probably damaging 1.00
R5112:Pabpc6 UTSW 17 9669611 missense probably damaging 1.00
R5769:Pabpc6 UTSW 17 9667843 nonsense probably null
R6174:Pabpc6 UTSW 17 9668155 missense probably benign
R6488:Pabpc6 UTSW 17 9669599 missense probably damaging 1.00
R7140:Pabpc6 UTSW 17 9668428 missense possibly damaging 0.46
R7586:Pabpc6 UTSW 17 9668682 missense probably damaging 1.00
R8001:Pabpc6 UTSW 17 9669373 missense probably damaging 1.00
R8129:Pabpc6 UTSW 17 9668498 missense possibly damaging 0.80
R8211:Pabpc6 UTSW 17 9669457 missense probably damaging 1.00
R8393:Pabpc6 UTSW 17 9668506 missense probably damaging 1.00
RF038:Pabpc6 UTSW 17 9668115 small deletion probably benign
Posted On2013-04-17