Incidental Mutation 'IGL02985:Pabpc4l'
ID406668
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 #IGL02985
Quality Score
Status
Chromosome3
Chromosomal Location46442197-46448219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46446582 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 209 (V209A)
Ref Sequence ENSEMBL: ENSMUSP00000141300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]
Predicted Effect possibly damaging
Transcript: ENSMUST00000166505
AA Change: V209A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: V209A

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 possibly damaging
Transcript: ENSMUST00000192793
AA Change: V209A

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: V209A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,958,757 L1862S probably damaging Het
Actc1 T C 2: 114,048,160 E318G probably damaging Het
Birc6 T C 17: 74,640,190 V2968A probably benign Het
Csgalnact1 A G 8: 68,461,043 V170A probably benign Het
Dph1 A G 11: 75,183,593 V131A possibly damaging Het
Galr1 A T 18: 82,393,730 M337K probably benign Het
Gm14214 G T 2: 154,769,454 T160N probably benign Het
Gpatch8 G T 11: 102,481,510 H401N unknown Het
Higd1a A G 9: 121,852,530 F20L probably benign Het
Hmcn1 A T 1: 150,671,917 I2761K probably damaging Het
Hspg2 T A 4: 137,507,803 Y83N probably damaging Het
Ilvbl C T 10: 78,579,067 P255S probably benign Het
Kpna2 T C 11: 106,989,337 Y495C probably benign Het
Krt36 G T 11: 100,103,179 Q327K probably benign Het
Lrrc34 T C 3: 30,636,295 M153V probably benign Het
Maats1 T A 16: 38,298,272 I722F probably damaging Het
Map9 A T 3: 82,359,902 R30* probably null Het
Mcf2l A G 8: 12,963,239 Y48C probably damaging Het
Mfsd13b T A 7: 121,000,172 I397K probably damaging Het
Mpp7 C A 18: 7,461,637 probably null Het
Mrgprx2 C T 7: 48,482,497 C191Y probably damaging Het
Olfr48 A T 2: 89,844,340 I211N possibly damaging Het
Pde7a T A 3: 19,310,883 H40L probably damaging Het
Phactr3 T C 2: 178,175,457 V22A probably benign Het
Plcl2 G T 17: 50,687,814 E1104* probably null Het
Ppp2cb A G 8: 33,615,446 probably benign Het
Prl3c1 A T 13: 27,199,387 Y12F probably damaging Het
Prune2 T C 19: 17,016,359 probably null Het
Rfesd T C 13: 76,008,212 D25G probably damaging Het
Rxfp1 C A 3: 79,652,226 M429I possibly damaging Het
Tmf1 A G 6: 97,176,809 L101P probably damaging Het
Ube2d2b T C 5: 107,830,797 S105P probably damaging Het
Wdr92 G A 11: 17,229,845 G282E probably damaging Het
Zfp518a C T 19: 40,913,667 T680I possibly damaging 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
IGL02937:Pabpc4l APN 3 46446290 missense probably benign 0.04
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 unclassified 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
Posted On2016-08-02