Incidental Mutation 'R8999:Pabpc4l'
ID 684850
Institutional Source Beutler Lab
Gene Symbol Pabpc4l
Ensembl Gene ENSMUSG00000090919
Gene Name poly(A) binding protein, cytoplasmic 4-like
Synonyms C330050A14Rik, EG241989
MMRRC Submission 068830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8999 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 46396632-46402654 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 46400783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 287 (I287S)
Ref Sequence ENSEMBL: ENSMUSP00000126224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166505] [ENSMUST00000192793] [ENSMUST00000195436] [ENSMUST00000195537]
AlphaFold G5E8X2
Predicted Effect probably benign
Transcript: ENSMUST00000166505
AA Change: I287S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000126224
Gene: ENSMUSG00000090919
AA Change: I287S

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: I287S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000141300
Gene: ENSMUSG00000090919
AA Change: I287S

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,921,083 (GRCm39) E245G possibly damaging Het
Cd6 A T 19: 10,776,642 (GRCm39) C128S probably damaging Het
Cep41 T C 6: 30,666,165 (GRCm39) D98G probably benign Het
Cfap52 T C 11: 67,818,137 (GRCm39) K525E probably damaging Het
Ddx10 T C 9: 53,140,534 (GRCm39) E289G possibly damaging Het
Dnah1 T C 14: 31,018,235 (GRCm39) T1428A probably benign Het
Dsg3 T C 18: 20,666,684 (GRCm39) L631P probably damaging Het
Dusp19 T A 2: 80,461,271 (GRCm39) C187S probably benign Het
Efcab3 A T 11: 104,640,477 (GRCm39) M1072L probably benign Het
Fap T C 2: 62,367,368 (GRCm39) H338R probably benign Het
Fxyd2 T C 9: 45,314,295 (GRCm39) probably benign Het
Gabrg1 T A 5: 70,973,378 (GRCm39) I59F probably benign Het
Glb1l3 A T 9: 26,764,914 (GRCm39) probably null Het
Gpr27 T C 6: 99,669,776 (GRCm39) I46T possibly damaging Het
Igkv8-26 C A 6: 70,170,514 (GRCm39) A35E probably benign Het
Ikzf1 A G 11: 11,635,013 (GRCm39) probably benign Het
Krt18 A C 15: 101,939,874 (GRCm39) E357D probably damaging Het
Lbr C T 1: 181,646,512 (GRCm39) G470E probably damaging Het
Map2 A T 1: 66,452,473 (GRCm39) K454N possibly damaging Het
Map2k3 T C 11: 60,840,817 (GRCm39) V282A Het
Men1 G A 19: 6,389,960 (GRCm39) V538I probably benign Het
Mfn1 T A 3: 32,623,683 (GRCm39) M621K possibly damaging Het
Mpdz C A 4: 81,202,882 (GRCm39) G1838* probably null Het
Msantd5f9 G C 4: 73,837,420 (GRCm39) N99K probably damaging Het
Mypn A T 10: 62,998,050 (GRCm39) L420* probably null Het
Nkx6-1 T C 5: 101,812,082 (GRCm39) M7V unknown Het
Notum G A 11: 120,545,207 (GRCm39) H451Y probably benign Het
Odad2 C A 18: 7,211,574 (GRCm39) V767L possibly damaging Het
Or11i1 A T 3: 106,728,999 (GRCm39) I292N probably damaging Het
Or2b28 A G 13: 21,531,988 (GRCm39) K297E probably damaging Het
Or6c3 A G 10: 129,309,386 (GRCm39) N275S probably benign Het
Pcdha2 C T 18: 37,073,428 (GRCm39) T353M possibly damaging Het
Plekha1 T C 7: 130,510,199 (GRCm39) I315T unknown Het
Ppp2r2b C T 18: 42,870,993 (GRCm39) A106T probably benign Het
Prkch T C 12: 73,742,973 (GRCm39) V209A probably damaging Het
Ptprc A G 1: 138,028,930 (GRCm39) C284R probably damaging Het
Ptprf A G 4: 118,083,671 (GRCm39) V804A probably benign Het
Rbp3 C T 14: 33,684,360 (GRCm39) R1130* probably null Het
Serpina6 C G 12: 103,617,988 (GRCm39) R275P probably damaging Het
Six3 T A 17: 85,931,164 (GRCm39) H273Q probably benign Het
Stk35 C A 2: 129,652,509 (GRCm39) P337T probably damaging Het
Supt5 A G 7: 28,037,848 (GRCm39) S2P unknown Het
Tnik A G 3: 28,719,920 (GRCm39) Y1264C probably damaging Het
Trim45 A G 3: 100,838,960 (GRCm39) T621A unknown Het
Tyrp1 T C 4: 80,763,094 (GRCm39) L327P probably damaging Het
Vmn2r69 A C 7: 85,060,307 (GRCm39) S426A 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
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
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'- GCCGTTCATCTCAGCCATTG -3'
(R):5'- TGATGAAAGATGCCACTGGG -3'

Sequencing Primer
(F):5'- GCCATTGCTTTCGCCGC -3'
(R):5'- CACTGGGAAGTCCAAAGGCTTTG -3'
Posted On 2021-10-11