Incidental Mutation 'IGL01594:Pabpc4l'
ID91676
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 #IGL01594
Quality Score
Status
Chromosome3
Chromosomal Location46442197-46448219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46447146 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 21 (V21D)
Ref Sequence ENSEMBL: ENSMUSP00000141684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]
Predicted Effect probably damaging
Transcript: ENSMUST00000166505
AA Change: V21D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: V21D

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 damaging
Transcript: ENSMUST00000192793
AA Change: V21D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: V21D

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 damaging
Transcript: ENSMUST00000195436
AA Change: V21D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919
AA Change: V21D

DomainStartEndE-ValueType
RRM 11 84 1.5e-19 SMART
RRM 99 170 1.8e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195537
AA Change: V21D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141854
Gene: ENSMUSG00000090919
AA Change: V21D

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,071 probably null Het
Acss1 A T 2: 150,621,530 V618E probably damaging Het
Adgrg6 T C 10: 14,434,340 N774D probably damaging Het
Atp9a A G 2: 168,691,012 V134A probably damaging Het
Csmd3 T A 15: 47,629,239 T3169S probably benign Het
D030068K23Rik T A 8: 109,251,377 Q52L unknown Het
Dnah5 T C 15: 28,311,334 S1820P possibly damaging Het
Fem1c A C 18: 46,506,276 S220A probably benign Het
Gm10305 G A 4: 99,273,177 D108N unknown Het
Gtdc1 A G 2: 44,591,879 probably null Het
Il2ra T C 2: 11,680,396 V181A possibly damaging Het
Lrrn1 T C 6: 107,567,493 I84T probably damaging Het
Map3k1 T A 13: 111,758,189 probably null Het
Mical1 T G 10: 41,480,329 Y293D probably damaging Het
Mpzl1 T C 1: 165,593,592 D266G probably damaging Het
Olfr544 C A 7: 102,485,047 M24I probably benign Het
Prdm10 T C 9: 31,346,853 C525R probably damaging Het
Ptprj C A 2: 90,440,795 probably benign Het
Rgs3 T C 4: 62,619,744 F4S probably damaging Het
Ryr3 G A 2: 112,772,728 T2457I probably damaging Het
Scn3a A G 2: 65,461,431 I1657T probably damaging Het
Sema6a A G 18: 47,248,817 S888P probably damaging Het
Slc37a1 T A 17: 31,319,148 Y148* probably null Het
Tex10 T C 4: 48,469,906 N53S possibly damaging Het
Tyr A T 7: 87,483,814 probably benign Het
Vmn2r100 A G 17: 19,531,233 S513G possibly damaging Het
Other mutations in Pabpc4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Pabpc4l APN 3 46447072 missense possibly damaging 0.80
IGL01727:Pabpc4l APN 3 46446665 missense probably damaging 1.00
IGL02937:Pabpc4l APN 3 46446290 missense probably benign 0.04
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 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
R8321:Pabpc4l UTSW 3 46446294 missense probably damaging 1.00
Posted On2013-12-09