Incidental Mutation 'IGL02937:Pabpc4l'
ID364348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pabpc4l
Ensembl Gene ENSMUSG00000090919
Gene Namepoly(A) binding protein, cytoplasmic 4-like
SynonymsEG241989, C330050A14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02937
Quality Score
Status
Chromosome3
Chromosomal Location46442197-46448219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 46446290 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 306 (D306E)
Ref Sequence ENSEMBL: ENSMUSP00000141300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]
Predicted Effect probably benign
Transcript: ENSMUST00000166505
AA Change: D306E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: D306E

DomainStartEndE-ValueType
RRM 11 84 3.4e-17 SMART
RRM 99 170 4.22e-22 SMART
RRM 191 263 2.44e-27 SMART
RRM 294 365 7.24e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192793
AA Change: D306E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: D306E

DomainStartEndE-ValueType
RRM 11 84 3.4e-17 SMART
RRM 99 170 4.22e-22 SMART
RRM 191 263 2.44e-27 SMART
RRM 294 365 7.24e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195436
SMART Domains Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919

DomainStartEndE-ValueType
RRM 11 84 1.5e-19 SMART
RRM 99 170 1.8e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195537
SMART Domains Protein: ENSMUSP00000141854
Gene: ENSMUSG00000090919

DomainStartEndE-ValueType
Pfam:RRM_1 12 51 8.9e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,294,753 C21Y probably damaging Het
4933427D06Rik T C 6: 89,108,145 noncoding transcript Het
5730480H06Rik A G 5: 48,379,441 I160V probably benign Het
Arhgap29 G A 3: 121,974,049 E47K probably damaging Het
Arhgef12 T A 9: 43,015,920 S303C probably damaging Het
Bap1 A G 14: 31,258,327 N644S probably benign Het
Cc2d1b A G 4: 108,631,894 E796G probably damaging Het
Cfh C A 1: 140,105,442 R788L probably benign Het
Cldn1 A G 16: 26,360,873 F148S probably damaging Het
Cryzl1 A G 16: 91,690,731 M292T possibly damaging Het
Cyp11b1 T C 15: 74,836,559 R385G possibly damaging Het
Cyp4f37 T C 17: 32,625,189 L89P probably benign Het
Dach1 A G 14: 97,915,795 probably null Het
Ddx58 C T 4: 40,229,661 C86Y probably benign Het
Dhtkd1 A G 2: 5,917,905 I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 D44E probably damaging Het
Dsg1a T A 18: 20,331,534 I362N possibly damaging Het
Ecm2 T A 13: 49,518,476 I151N probably damaging Het
Far1 T A 7: 113,540,648 I101N probably damaging Het
Gm21985 T C 2: 112,341,862 S384P probably benign Het
Gnb5 T C 9: 75,340,189 Y247H probably damaging Het
Golgb1 A G 16: 36,916,210 K1940E probably damaging Het
Gprc5b A G 7: 118,983,794 V284A probably benign Het
Idh2 T C 7: 80,098,913 Y179C probably damaging Het
Kalrn G A 16: 34,220,130 Q737* probably null Het
Kcnj13 T C 1: 87,386,453 D349G probably damaging Het
Lgsn A T 1: 31,204,237 T467S possibly damaging Het
Map9 T A 3: 82,363,512 S128T possibly damaging Het
Mroh5 A G 15: 73,789,978 C455R probably damaging Het
Nes A G 3: 87,979,879 H1771R probably benign Het
Nkain2 T C 10: 32,329,844 Y65C probably damaging Het
Olfr303 T C 7: 86,394,590 K303E possibly damaging Het
Olfr623 A T 7: 103,660,905 V115D probably damaging Het
Olfr644 T A 7: 104,068,849 M61L probably damaging Het
Parp12 A T 6: 39,102,581 Y332N probably damaging Het
Parvb A T 15: 84,308,953 K316M probably damaging Het
Pde8a T A 7: 81,295,771 probably benign Het
Polq A G 16: 37,013,109 T55A probably benign Het
Ppp2r5b T A 19: 6,230,986 K271M probably damaging Het
Ralgapb A G 2: 158,493,016 probably null Het
Skap2 T C 6: 51,909,371 N175D probably benign Het
Slc44a3 A G 3: 121,510,321 probably benign Het
Smurf2 G A 11: 106,846,047 H318Y probably damaging Het
Tbc1d23 T C 16: 57,184,415 T460A possibly damaging Het
Tcerg1 T C 18: 42,524,349 S299P unknown Het
Tll1 A C 8: 64,205,285 Y33* probably null Het
Tmem59 A T 4: 107,197,585 T196S probably damaging Het
Ttll4 C A 1: 74,679,503 A171D possibly damaging Het
Ttn T C 2: 76,811,169 T13528A possibly damaging Het
Ttn A G 2: 76,887,277 probably benign Het
Xpc C A 6: 91,500,137 G327W probably damaging Het
Zbtb7a A G 10: 81,144,298 S109G probably benign Het
Zfyve26 T C 12: 79,239,020 M2328V probably benign Het
Other mutations in Pabpc4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Pabpc4l APN 3 46447072 missense possibly damaging 0.80
IGL01594:Pabpc4l APN 3 46447146 missense probably damaging 1.00
IGL01727:Pabpc4l APN 3 46446665 missense probably damaging 1.00
IGL02985:Pabpc4l APN 3 46446582 missense possibly damaging 0.52
IGL03393:Pabpc4l APN 3 46446537 missense probably damaging 0.98
R0734:Pabpc4l UTSW 3 46446973 missense possibly damaging 0.71
R1889:Pabpc4l UTSW 3 46446363 missense probably benign 0.00
R1928:Pabpc4l UTSW 3 46446631 missense probably damaging 1.00
R2118:Pabpc4l UTSW 3 46446841 missense probably benign 0.00
R2119:Pabpc4l UTSW 3 46446841 missense probably benign 0.00
R2124:Pabpc4l UTSW 3 46446841 missense probably benign 0.00
R2238:Pabpc4l UTSW 3 46446702 missense probably damaging 1.00
R4740:Pabpc4l UTSW 3 46446135 missense possibly damaging 0.95
R4740:Pabpc4l UTSW 3 46446144 missense probably benign 0.03
R4897:Pabpc4l UTSW 3 46447143 missense probably damaging 1.00
R4911:Pabpc4l UTSW 3 46446162 missense possibly damaging 0.88
R5310:Pabpc4l UTSW 3 46446841 missense probably benign 0.00
R5532:Pabpc4l UTSW 3 46446609 missense probably benign 0.01
R5734:Pabpc4l UTSW 3 46446689 splice site probably null
R6200:Pabpc4l UTSW 3 46446703 missense probably damaging 1.00
R6994:Pabpc4l UTSW 3 46446910 missense possibly damaging 0.95
R7401:Pabpc4l UTSW 3 46446252 missense probably damaging 1.00
R7401:Pabpc4l UTSW 3 46446589 missense probably damaging 0.98
R7554:Pabpc4l UTSW 3 46447114 missense probably benign 0.30
R8321:Pabpc4l UTSW 3 46446294 missense probably damaging 1.00
R8506:Pabpc4l UTSW 3 46446397 nonsense probably null
Posted On2015-12-18