Incidental Mutation 'IGL01727:Pabpc4l'
ID 105312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pabpc4l
Ensembl Gene ENSMUSG00000090919
Gene Name poly(A) binding protein, cytoplasmic 4-like
Synonyms C330050A14Rik, EG241989
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01727
Quality Score
Status
Chromosome 3
Chromosomal Location 46396632-46402654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 46401100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 181 (E181D)
Ref Sequence ENSEMBL: ENSMUSP00000141300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]
AlphaFold G5E8X2
Predicted Effect probably damaging
Transcript: ENSMUST00000166505
AA Change: E181D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: E181D

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: E181D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: E181D

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 C T 11: 46,012,380 (GRCm39) A292V probably benign Het
Ankrd26 A G 6: 118,488,597 (GRCm39) L1354P probably damaging Het
Aox1 T A 1: 58,112,387 (GRCm39) C720* probably null Het
Aqp5 T C 15: 99,489,502 (GRCm39) L117P probably damaging Het
Ccn3 G A 15: 54,609,634 (GRCm39) A45T probably benign Het
Col9a3 T C 2: 180,258,358 (GRCm39) probably null Het
Ctrc T C 4: 141,571,072 (GRCm39) Y56C probably damaging Het
Dsc2 T A 18: 20,171,257 (GRCm39) T581S probably benign Het
Grap2 T C 15: 80,518,610 (GRCm39) I51T probably damaging Het
Herc2 A G 7: 55,787,554 (GRCm39) Y1737C probably damaging Het
Hook3 A G 8: 26,560,187 (GRCm39) M346T probably benign Het
Lancl1 C T 1: 67,060,101 (GRCm39) C108Y probably damaging Het
Lpin2 T C 17: 71,553,447 (GRCm39) C824R probably damaging Het
Mlip T C 9: 77,147,030 (GRCm39) S88G probably damaging Het
Mtdh T G 15: 34,083,255 (GRCm39) L25R probably damaging Het
Musk A G 4: 58,303,887 (GRCm39) I177V probably benign Het
Obi1 G A 14: 104,716,823 (GRCm39) R517* probably null Het
Or12e13 T C 2: 87,663,844 (GRCm39) S154P probably damaging Het
Or4c100 A G 2: 88,356,271 (GRCm39) M115V probably benign Het
Or9i16 A G 19: 13,865,242 (GRCm39) C111R probably damaging Het
Pcdh18 A G 3: 49,710,149 (GRCm39) S389P probably damaging Het
Ptk7 A G 17: 46,883,474 (GRCm39) Y864H probably damaging Het
Rbp4 A G 19: 38,112,500 (GRCm39) V155A probably benign Het
Rilpl1 C T 5: 124,669,007 (GRCm39) A14T possibly damaging Het
Rnf148 T A 6: 23,655,001 (GRCm39) probably benign Het
Ska2 T A 11: 87,006,973 (GRCm39) L26Q probably damaging Het
Slc29a2 T A 19: 5,076,486 (GRCm39) F125I probably damaging Het
Smap2 A G 4: 120,839,405 (GRCm39) probably benign Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Supt7l A G 5: 31,677,686 (GRCm39) V160A possibly damaging Het
Susd1 A G 4: 59,412,329 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,842 (GRCm39) D375G probably damaging Het
Thoc2l A G 5: 104,667,379 (GRCm39) T634A probably benign Het
Tpst2 G A 5: 112,457,724 (GRCm39) D351N probably damaging Het
Trcg1 T C 9: 57,149,556 (GRCm39) I376T probably benign Het
Trcg1 T A 9: 57,149,877 (GRCm39) I483N probably damaging Het
Tsga10 T C 1: 37,874,355 (GRCm39) E148G probably damaging Het
Zranb1 G T 7: 132,568,349 (GRCm39) D336Y probably damaging Het
Other mutations in Pabpc4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Pabpc4l APN 3 46,401,507 (GRCm39) missense possibly damaging 0.80
IGL01594:Pabpc4l APN 3 46,401,581 (GRCm39) missense probably damaging 1.00
IGL02937:Pabpc4l APN 3 46,400,725 (GRCm39) missense probably benign 0.04
IGL02985:Pabpc4l APN 3 46,401,017 (GRCm39) missense possibly damaging 0.52
IGL03393:Pabpc4l APN 3 46,400,972 (GRCm39) missense probably damaging 0.98
R0734:Pabpc4l UTSW 3 46,401,408 (GRCm39) missense possibly damaging 0.71
R1889:Pabpc4l UTSW 3 46,400,798 (GRCm39) missense probably benign 0.00
R1928:Pabpc4l UTSW 3 46,401,066 (GRCm39) missense probably damaging 1.00
R2118:Pabpc4l UTSW 3 46,401,276 (GRCm39) missense probably benign 0.00
R2119:Pabpc4l UTSW 3 46,401,276 (GRCm39) missense probably benign 0.00
R2124:Pabpc4l UTSW 3 46,401,276 (GRCm39) missense probably benign 0.00
R2238:Pabpc4l UTSW 3 46,401,137 (GRCm39) missense probably damaging 1.00
R4740:Pabpc4l UTSW 3 46,400,579 (GRCm39) missense probably benign 0.03
R4740:Pabpc4l UTSW 3 46,400,570 (GRCm39) missense possibly damaging 0.95
R4897:Pabpc4l UTSW 3 46,401,578 (GRCm39) missense probably damaging 1.00
R4911:Pabpc4l UTSW 3 46,400,597 (GRCm39) missense possibly damaging 0.88
R5310:Pabpc4l UTSW 3 46,401,276 (GRCm39) missense probably benign 0.00
R5532:Pabpc4l UTSW 3 46,401,044 (GRCm39) missense probably benign 0.01
R5734:Pabpc4l UTSW 3 46,401,124 (GRCm39) splice site probably null
R6200:Pabpc4l UTSW 3 46,401,138 (GRCm39) missense probably damaging 1.00
R6994:Pabpc4l UTSW 3 46,401,345 (GRCm39) missense possibly damaging 0.95
R7401:Pabpc4l UTSW 3 46,401,024 (GRCm39) missense probably damaging 0.98
R7401:Pabpc4l UTSW 3 46,400,687 (GRCm39) missense probably damaging 1.00
R7554:Pabpc4l UTSW 3 46,401,549 (GRCm39) missense probably benign 0.30
R8321:Pabpc4l UTSW 3 46,400,729 (GRCm39) missense probably damaging 1.00
R8506:Pabpc4l UTSW 3 46,400,832 (GRCm39) nonsense probably null
R8998:Pabpc4l UTSW 3 46,400,783 (GRCm39) missense probably benign 0.01
R8999:Pabpc4l UTSW 3 46,400,783 (GRCm39) missense probably benign 0.01
R9320:Pabpc4l UTSW 3 46,401,326 (GRCm39) missense probably damaging 0.99
R9385:Pabpc4l UTSW 3 46,401,137 (GRCm39) missense probably damaging 1.00
R9669:Pabpc4l UTSW 3 46,401,267 (GRCm39) missense probably damaging 1.00
R9737:Pabpc4l UTSW 3 46,401,267 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21