Incidental Mutation 'R2072:Paip1'
ID 227257
Institutional Source Beutler Lab
Gene Symbol Paip1
Ensembl Gene ENSMUSG00000025451
Gene Name polyadenylate binding protein-interacting protein 1
Synonyms
MMRRC Submission 040077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R2072 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 119565137-119594754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119566798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 128 (V128A)
Ref Sequence ENSEMBL: ENSMUSP00000117256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026520] [ENSMUST00000109203] [ENSMUST00000126957] [ENSMUST00000173627]
AlphaFold Q8VE62
Predicted Effect possibly damaging
Transcript: ENSMUST00000026520
AA Change: V44A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026520
Gene: ENSMUSG00000025451
AA Change: V44A

DomainStartEndE-ValueType
Pfam:PAM2 44 61 8.9e-8 PFAM
MIF4G 80 297 2.62e-46 SMART
low complexity region 373 385 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109203
AA Change: V11A

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104826
Gene: ENSMUSG00000025451
AA Change: V11A

DomainStartEndE-ValueType
Pfam:PAM2 11 28 3.7e-7 PFAM
MIF4G 47 264 2.62e-46 SMART
low complexity region 340 352 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000126957
AA Change: V128A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117256
Gene: ENSMUSG00000025451
AA Change: V128A

DomainStartEndE-ValueType
low complexity region 7 38 N/A INTRINSIC
low complexity region 44 74 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
Pfam:PAM2 128 145 3.3e-7 PFAM
MIF4G 164 381 2.62e-46 SMART
low complexity region 457 469 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000132304
AA Change: V132A
SMART Domains Protein: ENSMUSP00000134617
Gene: ENSMUSG00000025451
AA Change: V132A

DomainStartEndE-ValueType
low complexity region 7 38 N/A INTRINSIC
low complexity region 44 74 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
Pfam:PAM2 128 145 6.8e-5 PFAM
Pfam:MIF4G 164 267 1.9e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173627
AA Change: V44A

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134051
Gene: ENSMUSG00000025451
AA Change: V44A

DomainStartEndE-ValueType
Pfam:PAM2 44 61 3.6e-7 PFAM
MIF4G 80 297 2.62e-46 SMART
Predicted Effect unknown
Transcript: ENSMUST00000174691
AA Change: V35A
SMART Domains Protein: ENSMUSP00000134502
Gene: ENSMUSG00000025451
AA Change: V35A

DomainStartEndE-ValueType
Pfam:PAM2 36 53 2.4e-7 PFAM
Pfam:MIF4G 72 207 1.6e-27 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 64,056,080 (GRCm39) R272P possibly damaging Het
Ablim3 A T 18: 61,990,159 (GRCm39) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Adamts13 C A 2: 26,895,437 (GRCm39) T1176N probably benign Het
Adgre5 T C 8: 84,454,433 (GRCm39) T357A probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankrd33 T C 15: 101,017,517 (GRCm39) V310A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bnipl C T 3: 95,151,522 (GRCm39) G232E probably damaging Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Cacna1s G A 1: 136,007,242 (GRCm39) V173I probably benign Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chrdl1 T C X: 142,086,414 (GRCm39) I231V probably benign Het
Ciita C T 16: 10,336,217 (GRCm39) T958I probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Dcaf15 T C 8: 84,828,370 (GRCm39) D240G probably damaging Het
Dlgap1 C T 17: 70,969,765 (GRCm39) R524C probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dsg1c A G 18: 20,408,309 (GRCm39) M453V probably benign Het
Ednrb G T 14: 104,054,535 (GRCm39) N432K probably benign Het
Fcgbp G A 7: 27,819,814 (GRCm39) G2514S probably damaging Het
Fez1 A G 9: 36,779,241 (GRCm39) K306R probably benign Het
Fmo4 A G 1: 162,637,456 (GRCm39) V12A probably benign Het
Fpgt T C 3: 154,793,511 (GRCm39) Y172C probably damaging Het
Fsip2 T A 2: 82,839,159 (GRCm39) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm39) R205* probably null Het
Grik5 A T 7: 24,714,738 (GRCm39) M752K possibly damaging Het
Herc2 A G 7: 55,876,712 (GRCm39) N4516S probably damaging Het
Ifrd2 A T 9: 107,469,744 (GRCm39) D439V probably damaging Het
Igsf3 A G 3: 101,346,831 (GRCm39) T609A probably benign Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Lgi2 A G 5: 52,695,847 (GRCm39) S371P probably damaging Het
Marchf3 A T 18: 56,944,925 (GRCm39) V56E possibly damaging Het
Mib2 T C 4: 155,744,158 (GRCm39) D168G probably damaging Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nlrp2 A G 7: 5,328,005 (GRCm39) S683P probably damaging Het
Onecut3 T G 10: 80,330,848 (GRCm39) L3V unknown Het
Or12j2 T C 7: 139,916,566 (GRCm39) S264P possibly damaging Het
Or4c35 C A 2: 89,808,557 (GRCm39) T145K probably benign Het
Or5b102 A T 19: 13,041,044 (GRCm39) M90L probably benign Het
Otogl C T 10: 107,616,904 (GRCm39) C1791Y probably damaging Het
Pcnx2 A T 8: 126,488,481 (GRCm39) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plxnb2 G T 15: 89,042,654 (GRCm39) R1545S probably damaging Het
Ppp4c T C 7: 126,386,520 (GRCm39) probably null Het
Prune1 C T 3: 95,162,719 (GRCm39) R318Q probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Psg27 A G 7: 18,298,934 (GRCm39) L129P probably benign Het
Psmc6 A G 14: 45,567,323 (GRCm39) K7E possibly damaging Het
Reln A T 5: 22,124,175 (GRCm39) V2777E probably damaging Het
Rigi A T 4: 40,224,069 (GRCm39) probably null Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Smarcd2 A T 11: 106,156,133 (GRCm39) L42* probably null Het
Smg1 T C 7: 117,762,389 (GRCm39) probably benign Het
Smurf2 T A 11: 106,732,595 (GRCm39) Q335L probably benign Het
Sspo A T 6: 48,450,451 (GRCm39) H2580L probably benign Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syt1 A G 10: 108,419,833 (GRCm39) I276T probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar9 A T 10: 23,984,877 (GRCm39) C186S probably damaging Het
Tnrc6b C T 15: 80,767,166 (GRCm39) P977L possibly damaging Het
Trp53bp2 A G 1: 182,286,432 (GRCm39) T1091A probably benign Het
Ttn G T 2: 76,768,120 (GRCm39) T2947N probably damaging Het
Ube2q1 T C 3: 89,686,878 (GRCm39) probably null Het
Ube3c A G 5: 29,840,638 (GRCm39) E671G probably benign Het
Upf3a A G 8: 13,835,850 (GRCm39) K56R possibly damaging Het
Vmn2r15 A T 5: 109,434,619 (GRCm39) M695K possibly damaging Het
Vmn2r3 A T 3: 64,182,493 (GRCm39) M402K possibly damaging Het
Zfp354b T A 11: 50,813,279 (GRCm39) R549* probably null Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp747 T A 7: 126,973,142 (GRCm39) T343S possibly damaging Het
Zfp853 T A 5: 143,275,137 (GRCm39) Q161L unknown Het
Other mutations in Paip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02668:Paip1 APN 13 119,574,607 (GRCm39) missense probably damaging 1.00
IGL02873:Paip1 APN 13 119,582,348 (GRCm39) missense possibly damaging 0.95
R0517:Paip1 UTSW 13 119,584,326 (GRCm39) missense probably damaging 1.00
R0791:Paip1 UTSW 13 119,566,854 (GRCm39) missense possibly damaging 0.69
R0792:Paip1 UTSW 13 119,566,854 (GRCm39) missense possibly damaging 0.69
R1419:Paip1 UTSW 13 119,593,553 (GRCm39) missense probably damaging 0.99
R1572:Paip1 UTSW 13 119,588,320 (GRCm39) unclassified probably benign
R1935:Paip1 UTSW 13 119,593,550 (GRCm39) missense probably damaging 1.00
R1936:Paip1 UTSW 13 119,593,550 (GRCm39) missense probably damaging 1.00
R3827:Paip1 UTSW 13 119,566,768 (GRCm39) start codon destroyed probably null 0.47
R4082:Paip1 UTSW 13 119,593,540 (GRCm39) missense probably damaging 1.00
R4092:Paip1 UTSW 13 119,586,449 (GRCm39) missense probably benign 0.02
R4854:Paip1 UTSW 13 119,586,425 (GRCm39) splice site probably benign
R5012:Paip1 UTSW 13 119,584,338 (GRCm39) missense probably benign
R5103:Paip1 UTSW 13 119,574,515 (GRCm39) missense possibly damaging 0.95
R5425:Paip1 UTSW 13 119,566,702 (GRCm39) missense possibly damaging 0.60
R5592:Paip1 UTSW 13 119,587,334 (GRCm39) missense probably damaging 1.00
R5851:Paip1 UTSW 13 119,577,301 (GRCm39) missense possibly damaging 0.94
R5929:Paip1 UTSW 13 119,582,326 (GRCm39) missense probably damaging 1.00
R5976:Paip1 UTSW 13 119,593,533 (GRCm39) missense probably damaging 1.00
R6021:Paip1 UTSW 13 119,593,671 (GRCm39) frame shift probably null
R6326:Paip1 UTSW 13 119,566,753 (GRCm39) missense probably benign 0.00
R6964:Paip1 UTSW 13 119,587,306 (GRCm39) missense possibly damaging 0.61
R7544:Paip1 UTSW 13 119,582,337 (GRCm39) missense probably damaging 1.00
R7552:Paip1 UTSW 13 119,577,356 (GRCm39) missense possibly damaging 0.83
R7659:Paip1 UTSW 13 119,587,306 (GRCm39) missense possibly damaging 0.61
R7660:Paip1 UTSW 13 119,587,306 (GRCm39) missense possibly damaging 0.61
R7661:Paip1 UTSW 13 119,587,306 (GRCm39) missense possibly damaging 0.61
R7984:Paip1 UTSW 13 119,566,698 (GRCm39) nonsense probably null
R8294:Paip1 UTSW 13 119,587,300 (GRCm39) missense possibly damaging 0.95
R8884:Paip1 UTSW 13 119,574,553 (GRCm39) missense probably damaging 1.00
R8888:Paip1 UTSW 13 119,566,801 (GRCm39) missense probably benign 0.02
R8895:Paip1 UTSW 13 119,566,801 (GRCm39) missense probably benign 0.02
R9315:Paip1 UTSW 13 119,586,516 (GRCm39) missense probably benign 0.24
Z1177:Paip1 UTSW 13 119,584,344 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GTTCTCAGACGGTTTCTAAATCTG -3'
(R):5'- TAGTACTGAAAGCAGCCAGC -3'

Sequencing Primer
(F):5'- GGAATGAATACATCTAGCACTGTTTG -3'
(R):5'- CACAAGACTTGTAGGAGGTTT -3'
Posted On 2014-09-17