Incidental Mutation 'R5310:Pabpc4l'
ID 404763
Institutional Source Beutler Lab
Gene Symbol Pabpc4l
Ensembl Gene ENSMUSG00000090919
Gene Name poly(A) binding protein, cytoplasmic 4-like
Synonyms C330050A14Rik, EG241989
MMRRC Submission 042893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5310 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 46396632-46402654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46401276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 123 (T123A)
Ref Sequence ENSEMBL: ENSMUSP00000141300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]
AlphaFold G5E8X2
Predicted Effect probably benign
Transcript: ENSMUST00000166505
AA Change: T123A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: T123A

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: T123A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: T123A

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
AA Change: T123A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919
AA Change: T123A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,931,839 (GRCm39) I31L possibly damaging Het
Abca17 T C 17: 24,500,204 (GRCm39) K1329R probably benign Het
Acap2 A G 16: 30,952,427 (GRCm39) Y197H probably benign Het
Adgrv1 A G 13: 81,624,809 (GRCm39) V3720A possibly damaging Het
Alms1 T A 6: 85,592,350 (GRCm39) S870T possibly damaging Het
Anapc4 A G 5: 53,016,501 (GRCm39) E493G probably benign Het
Ap2a1 A G 7: 44,555,489 (GRCm39) probably null Het
Arhgef38 A G 3: 132,822,227 (GRCm39) L179P probably damaging Het
Bicral T C 17: 47,124,909 (GRCm39) D630G possibly damaging Het
Ccdc97 A T 7: 25,415,201 (GRCm39) L154Q probably damaging Het
Cd40 T C 2: 164,905,483 (GRCm39) probably null Het
Celsr1 T A 15: 85,810,423 (GRCm39) N2155I possibly damaging Het
Cemip A T 7: 83,641,241 (GRCm39) L261H probably damaging Het
Cep57 G A 9: 13,730,164 (GRCm39) H98Y probably damaging Het
Chrna7 A T 7: 62,755,805 (GRCm39) L247Q probably damaging Het
Cyp2c40 T A 19: 39,766,474 (GRCm39) M374L probably damaging Het
Cyp4f13 T C 17: 33,144,795 (GRCm39) D372G probably damaging Het
Dazl C A 17: 50,588,311 (GRCm39) S288I probably damaging Het
Dnah5 T C 15: 28,311,474 (GRCm39) F1818L probably damaging Het
Echdc1 T C 10: 29,210,204 (GRCm39) V143A possibly damaging Het
Eif4enif1 T A 11: 3,192,687 (GRCm39) H838Q probably damaging Het
Erich3 A T 3: 154,469,217 (GRCm39) D1223V probably damaging Het
Fbxl2 A G 9: 113,815,576 (GRCm39) I229T possibly damaging Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Ggnbp2 A G 11: 84,760,794 (GRCm39) M1T probably null Het
Glb1l2 C T 9: 26,708,162 (GRCm39) probably benign Het
Gnl2 A G 4: 124,946,633 (GRCm39) K618R probably benign Het
Greb1 A T 12: 16,766,760 (GRCm39) I346K probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gtse1 A G 15: 85,757,993 (GRCm39) Q533R probably benign Het
Hemgn A G 4: 46,403,927 (GRCm39) S23P possibly damaging Het
Htr6 G T 4: 138,788,977 (GRCm39) H359Q probably damaging Het
Ifit1 T C 19: 34,626,204 (GRCm39) F447L probably benign Het
Kansl1 T C 11: 104,315,684 (GRCm39) Y118C possibly damaging Het
Khk G A 5: 31,084,373 (GRCm39) V118M probably benign Het
Klra17 T A 6: 129,845,671 (GRCm39) K181M probably damaging Het
Lbh T C 17: 73,228,287 (GRCm39) probably null Het
Lmo2 T C 2: 103,806,445 (GRCm39) I108T probably damaging Het
Maco1 T C 4: 134,564,330 (GRCm39) probably benign Het
Mgat5 T A 1: 127,315,251 (GRCm39) probably null Het
Mink1 T C 11: 70,498,169 (GRCm39) V525A probably benign Het
Myo10 C A 15: 25,778,164 (GRCm39) probably null Het
Nlrp2 T C 7: 5,328,007 (GRCm39) N682S probably benign Het
Nr2e3 G A 9: 59,856,617 (GRCm39) probably benign Het
Or5p5 T C 7: 107,414,171 (GRCm39) C129R probably damaging Het
Or6b2b T C 1: 92,418,758 (GRCm39) T240A probably damaging Het
Pfas G A 11: 68,878,847 (GRCm39) S1319F probably damaging Het
Phf3 T C 1: 30,842,887 (GRCm39) K2024R probably damaging Het
Pld4 G A 12: 112,735,046 (GRCm39) C501Y probably damaging Het
Psg16 C T 7: 16,824,560 (GRCm39) R115W probably damaging Het
Rab3gap1 G A 1: 127,870,110 (GRCm39) probably null Het
Rimkla C A 4: 119,335,049 (GRCm39) K111N probably damaging Het
Rrm2b T C 15: 37,927,571 (GRCm39) E113G probably damaging Het
Rspry1 C T 8: 95,349,813 (GRCm39) T67I probably benign Het
Skint6 C A 4: 113,041,965 (GRCm39) E292* probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc13a1 A G 6: 24,134,373 (GRCm39) M170T probably benign Het
Slc15a5 T C 6: 138,050,034 (GRCm39) N127S probably benign Het
Slc39a10 G A 1: 46,875,285 (GRCm39) H6Y probably damaging Het
Spata31e2 A C 1: 26,724,169 (GRCm39) V337G probably benign Het
Sugct A T 13: 17,427,145 (GRCm39) C338* probably null Het
Tbk1 A T 10: 121,391,956 (GRCm39) M486K probably benign Het
Terf1 A T 1: 15,875,909 (GRCm39) E3V probably damaging Het
Thoc5 T A 11: 4,860,648 (GRCm39) Y246N probably damaging Het
Tmem167b G A 3: 108,469,415 (GRCm39) probably benign Het
Tmtc1 T A 6: 148,256,910 (GRCm39) probably benign Het
Zfp322a A T 13: 23,541,532 (GRCm39) M70K possibly damaging Het
Zfp979 A T 4: 147,698,375 (GRCm39) H111Q possibly 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
IGL01727:Pabpc4l APN 3 46,401,100 (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
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
Predicted Primers PCR Primer
(F):5'- GGTTTGTCTCTGAGCTCAGC -3'
(R):5'- CAACGTTCACTAGGCTACGC -3'

Sequencing Primer
(F):5'- TGAGCTCAGCCTCCCGATC -3'
(R):5'- TCCAGGTTAATGATGCCCAG -3'
Posted On 2016-07-22