Incidental Mutation 'R6200:Pabpc4l'
ID 503135
Institutional Source Beutler Lab
Gene Symbol Pabpc4l
Ensembl Gene ENSMUSG00000090919
Gene Name poly(A) binding protein, cytoplasmic 4-like
Synonyms C330050A14Rik, EG241989
MMRRC Submission 044340-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6200 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 46396632-46402654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 46401138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 169 (V169L)
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: V169L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: V169L

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: V169L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: V169L

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: V169L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919
AA Change: V169L

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 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 91% (32/35)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,876 (GRCm39) Y54C probably damaging Het
Ash1l A G 3: 88,977,834 (GRCm39) H2719R probably damaging Het
Atraid A G 5: 31,210,210 (GRCm39) N127D probably damaging Het
Capzb T C 4: 139,007,324 (GRCm39) V145A probably benign Het
Catspere2 A G 1: 177,939,124 (GRCm39) N666D possibly damaging Het
Cfhr4 T A 1: 139,682,073 (GRCm39) R174S probably damaging Het
Cldn17 A C 16: 88,303,459 (GRCm39) L90R probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Fancc A C 13: 63,508,062 (GRCm39) L158V probably damaging Het
Fcamr T C 1: 130,730,927 (GRCm39) L60P probably benign Het
G6pd2 C T 5: 61,967,214 (GRCm39) R330C probably benign Het
Gpr158 A T 2: 21,404,227 (GRCm39) N333I probably damaging Het
Herpud2 A G 9: 25,062,130 (GRCm39) Y45H probably damaging Het
Icam5 A G 9: 20,950,045 (GRCm39) Y868C probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Luzp1 C A 4: 136,268,577 (GRCm39) Q267K probably benign Het
Nkpd1 C A 7: 19,258,528 (GRCm39) A769E possibly damaging Het
Or5p58 AACTCTGTCACT AACT 7: 107,694,732 (GRCm39) probably null Het
Pcdhga7 A G 18: 37,849,135 (GRCm39) N381D probably damaging Het
Pcsk1 A T 13: 75,263,374 (GRCm39) N372Y possibly damaging Het
Ppp1r21 C T 17: 88,876,613 (GRCm39) T475M possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Psd2 G A 18: 36,139,776 (GRCm39) probably null Het
Psip1 T C 4: 83,392,610 (GRCm39) K100E probably benign Het
Pxdn A G 12: 30,053,111 (GRCm39) H1096R probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a8 C T 15: 79,137,137 (GRCm39) G91D probably damaging Het
Slc22a21 A T 11: 53,848,864 (GRCm39) I296N probably damaging Het
Smad9 A G 3: 54,696,607 (GRCm39) D224G probably benign Het
Tle2 G A 10: 81,424,706 (GRCm39) V678M probably damaging Het
Tmc1 C T 19: 20,766,954 (GRCm39) R749Q possibly damaging Het
Tmco3 T A 8: 13,342,077 (GRCm39) probably null Het
Tspoap1 A G 11: 87,652,529 (GRCm39) E101G possibly damaging Het
Zfp57 A T 17: 37,321,303 (GRCm39) T386S probably benign 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
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
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'- AGTGGCATCTTTCATCACCTTAAC -3'
(R):5'- ATGCTTGCCTGAGGAGATCG -3'

Sequencing Primer
(F):5'- CACTCAAAGTTTGGCCATATTTGCTG -3'
(R):5'- GTCGGGAATGTGTTTATCAAGAATC -3'
Posted On 2018-02-27