Incidental Mutation 'IGL00900:Pabpc4l'
ID 27069
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 # IGL00900
Quality Score
Status
Chromosome 3
Chromosomal Location 46396632-46402654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46401507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 46 (I46F)
Ref Sequence ENSEMBL: ENSMUSP00000141300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]
AlphaFold G5E8X2
Predicted Effect possibly damaging
Transcript: ENSMUST00000166505
AA Change: I46F

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: I46F

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: I46F

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: I46F

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: ENSMUST00000195436
AA Change: I46F

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141684
Gene: ENSMUSG00000090919
AA Change: I46F

DomainStartEndE-ValueType
RRM 11 84 1.5e-19 SMART
RRM 99 170 1.8e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195537
AA Change: I46F

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000141854
Gene: ENSMUSG00000090919
AA Change: I46F

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,361,383 (GRCm39) probably benign Het
Agap3 G A 5: 24,681,366 (GRCm39) probably benign Het
Angptl2 A T 2: 33,133,784 (GRCm39) M369L probably benign Het
Arhgef11 A G 3: 87,590,867 (GRCm39) D36G possibly damaging Het
Ccnt1 A G 15: 98,452,514 (GRCm39) V134A probably damaging Het
Ces1e T C 8: 93,944,245 (GRCm39) H191R probably damaging Het
Dhh A G 15: 98,796,101 (GRCm39) probably benign Het
Edil3 C A 13: 89,437,652 (GRCm39) H418N probably benign Het
Fam161b T C 12: 84,402,743 (GRCm39) I296V probably benign Het
Focad T A 4: 88,047,260 (GRCm39) N86K probably damaging Het
Foxn1 C T 11: 78,262,109 (GRCm39) G87S probably benign Het
Glipr1l2 T C 10: 111,933,887 (GRCm39) Y220H probably benign Het
Hnrnpa1 A G 15: 103,152,166 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ipo11 T C 13: 106,983,952 (GRCm39) M797V possibly damaging Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Klhdc2 T A 12: 69,350,308 (GRCm39) F118I probably benign Het
Mtap T A 4: 89,090,594 (GRCm39) Y221* probably null Het
Myh2 T C 11: 67,070,210 (GRCm39) V414A probably damaging Het
Ncor2 A T 5: 125,102,848 (GRCm39) Y1999N probably damaging Het
Or5d39 A G 2: 87,979,604 (GRCm39) F253S possibly damaging Het
Oxsm A G 14: 16,242,023 (GRCm38) S249P probably damaging Het
Pcnx2 A G 8: 126,589,975 (GRCm39) probably benign Het
Rasal2 A G 1: 157,239,499 (GRCm39) S4P possibly damaging Het
Reln A G 5: 22,185,115 (GRCm39) V1534A probably damaging Het
Rnf138 T A 18: 21,154,017 (GRCm39) D174E possibly damaging Het
Sh3pxd2a T A 19: 47,302,594 (GRCm39) N162Y probably benign Het
Slc6a4 A T 11: 76,914,006 (GRCm39) T519S probably benign Het
Slfn9 A T 11: 82,872,197 (GRCm39) C846* probably null Het
Trip12 A G 1: 84,702,485 (GRCm39) S1945P possibly damaging Het
Vmn1r232 A G 17: 21,134,394 (GRCm39) F69L probably benign Het
Zeb2 T C 2: 44,887,287 (GRCm39) D545G probably damaging Het
Other mutations in Pabpc4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17