Incidental Mutation 'R7552:Paip1'
ID 584507
Institutional Source Beutler Lab
Gene Symbol Paip1
Ensembl Gene ENSMUSG00000025451
Gene Name polyadenylate binding protein-interacting protein 1
Synonyms
MMRRC Submission 045621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R7552 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 119565137-119594754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119577356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 149 (H149L)
Ref Sequence ENSEMBL: ENSMUSP00000026520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026520] [ENSMUST00000109203] [ENSMUST00000126957] [ENSMUST00000173627] [ENSMUST00000174533]
AlphaFold Q8VE62
Predicted Effect possibly damaging
Transcript: ENSMUST00000026520
AA Change: H149L

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026520
Gene: ENSMUSG00000025451
AA Change: H149L

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: H116L

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104826
Gene: ENSMUSG00000025451
AA Change: H116L

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 probably damaging
Transcript: ENSMUST00000126957
AA Change: H233L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117256
Gene: ENSMUSG00000025451
AA Change: H233L

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 probably damaging
Transcript: ENSMUST00000132304
AA Change: H237L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134617
Gene: ENSMUSG00000025451
AA Change: H237L

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: H149L

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134051
Gene: ENSMUSG00000025451
AA Change: H149L

DomainStartEndE-ValueType
Pfam:PAM2 44 61 3.6e-7 PFAM
MIF4G 80 297 2.62e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174533
SMART Domains Protein: ENSMUSP00000134365
Gene: ENSMUSG00000025451

DomainStartEndE-ValueType
Pfam:MIF4G 49 106 1.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174691
AA Change: H140L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134502
Gene: ENSMUSG00000025451
AA Change: H140L

DomainStartEndE-ValueType
Pfam:PAM2 36 53 2.4e-7 PFAM
Pfam:MIF4G 72 207 1.6e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (89/89)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A G 10: 80,419,737 (GRCm39) Y290H probably benign Het
Aco2 T C 15: 81,788,142 (GRCm39) V257A probably damaging Het
Adam26a C A 8: 44,023,007 (GRCm39) C161F possibly damaging Het
Adam9 G A 8: 25,445,988 (GRCm39) P820S unknown Het
Adcy4 G A 14: 56,010,922 (GRCm39) T665M probably benign Het
Ahnak T A 19: 8,984,188 (GRCm39) M1824K probably benign Het
Alpi T C 1: 87,026,795 (GRCm39) N428D probably benign Het
Ano5 C T 7: 51,196,528 (GRCm39) P153L probably benign Het
Atp1a1 A T 3: 101,489,437 (GRCm39) L725* probably null Het
Atp8b2 G A 3: 89,854,071 (GRCm39) T595I probably damaging Het
Ccdc66 T C 14: 27,220,820 (GRCm39) I35V possibly damaging Het
Cd163 A G 6: 124,284,187 (GRCm39) T120A probably benign Het
Cmah A T 13: 24,640,938 (GRCm39) T396S possibly damaging Het
Cmya5 C T 13: 93,205,820 (GRCm39) V3350I probably benign Het
Commd9 A C 2: 101,731,410 (GRCm39) K198N probably damaging Het
Cxcr1 A G 1: 74,231,773 (GRCm39) V83A probably benign Het
D630045J12Rik A G 6: 38,125,383 (GRCm39) S1544P probably damaging Het
Ddt A T 10: 75,609,048 (GRCm39) probably null Het
Depdc7 A G 2: 104,557,585 (GRCm39) S222P possibly damaging Het
Ehd2 A G 7: 15,684,431 (GRCm39) I456T probably damaging Het
Epas1 A T 17: 87,136,471 (GRCm39) M748L probably benign Het
Esr1 G A 10: 4,806,903 (GRCm39) R273H probably damaging Het
Fras1 G A 5: 96,916,297 (GRCm39) D3444N probably damaging Het
Hand2 A G 8: 57,775,272 (GRCm39) R111G probably damaging Het
Hecw1 A T 13: 14,490,835 (GRCm39) V306E probably damaging Het
Ift140 T C 17: 25,252,089 (GRCm39) I312T probably benign Het
Ikbke A T 1: 131,199,887 (GRCm39) L257* probably null Het
Kcnk5 G A 14: 20,192,349 (GRCm39) P271S probably benign Het
Lama1 T C 17: 68,044,662 (GRCm39) V187A Het
Lemd2 A T 17: 27,412,810 (GRCm39) probably null Het
Lig3 T A 11: 82,679,717 (GRCm39) D341E probably benign Het
Lpcat1 C T 13: 73,643,014 (GRCm39) S196L probably damaging Het
Lrp1b A T 2: 40,567,582 (GRCm39) D4048E Het
Lrrfip1 G A 1: 91,033,005 (GRCm39) E158K probably damaging Het
Mcm5 T C 8: 75,848,220 (GRCm39) S490P probably damaging Het
Mia3 A C 1: 183,147,036 (GRCm39) Y73* probably null Het
Minar1 T A 9: 89,483,888 (GRCm39) H503L probably benign Het
Msr1 A T 8: 40,077,003 (GRCm39) N202K probably benign Het
N4bp2l2 A T 5: 150,585,286 (GRCm39) Y231* probably null Het
Nbeal2 A G 9: 110,482,985 (GRCm39) W11R probably benign Het
Ncor1 T C 11: 62,264,250 (GRCm39) E384G possibly damaging Het
Neb A G 2: 52,137,202 (GRCm39) V254A Het
Nlrp9b T C 7: 19,779,691 (GRCm39) S785P probably benign Het
Oprd1 T G 4: 131,841,092 (GRCm39) I289L possibly damaging Het
Or4c10 G T 2: 89,761,064 (GRCm39) D304Y probably benign Het
Or4s2 A G 2: 88,473,752 (GRCm39) I214V probably benign Het
Or5m12 A G 2: 85,734,447 (GRCm39) V317A probably benign Het
Or6a2 T C 7: 106,600,534 (GRCm39) T178A probably benign Het
Or6c2 T A 10: 129,362,429 (GRCm39) F111Y possibly damaging Het
Orc1 A G 4: 108,445,951 (GRCm39) N23S probably benign Het
Pdhx A T 2: 102,877,099 (GRCm39) D103E probably benign Het
Pi4ka T C 16: 17,109,080 (GRCm39) Y1614C Het
Pias3 ACC AC 3: 96,608,701 (GRCm39) probably null Het
Pigb A G 9: 72,941,770 (GRCm39) V163A probably benign Het
Pla2g4d A G 2: 120,114,620 (GRCm39) I37T possibly damaging Het
Ppfia1 A T 7: 144,059,982 (GRCm39) V610D probably damaging Het
Pramel41 G A 5: 94,596,394 (GRCm39) C477Y probably damaging Het
Prss1 T C 6: 41,439,507 (GRCm39) V80A probably benign Het
Psph G A 5: 129,847,800 (GRCm39) R49W probably benign Het
Qrich2 T C 11: 116,347,080 (GRCm39) Y1248C possibly damaging Het
Rlbp1 T A 7: 79,029,861 (GRCm39) Y124F probably damaging Het
Scn4a T A 11: 106,239,995 (GRCm39) E74V probably benign Het
Sdk2 A T 11: 113,764,039 (GRCm39) I249N possibly damaging Het
Sgsh A T 11: 119,237,378 (GRCm39) L412Q probably damaging Het
Shank1 C A 7: 44,002,452 (GRCm39) D1390E probably benign Het
Slc12a6 A G 2: 112,172,319 (GRCm39) D421G probably damaging Het
Snx29 T A 16: 11,238,649 (GRCm39) probably null Het
Spata31d1c A G 13: 65,183,937 (GRCm39) Y493C probably damaging Het
Stmn4 G A 14: 66,593,727 (GRCm39) G40E probably damaging Het
Stox2 A G 8: 47,656,154 (GRCm39) probably null Het
Strada T C 11: 106,077,830 (GRCm39) S45G unknown Het
Taco1 G A 11: 105,962,774 (GRCm39) G154S probably benign Het
Tas2r121 T C 6: 132,677,505 (GRCm39) M156V probably benign Het
Tbc1d31 A G 15: 57,804,136 (GRCm39) S384G probably benign Het
Tbc1d9 A T 8: 83,966,560 (GRCm39) D387V probably damaging Het
Tet3 A G 6: 83,345,289 (GRCm39) L1716P probably damaging Het
Thbs1 A G 2: 117,943,843 (GRCm39) K154E possibly damaging Het
Ush2a T C 1: 187,999,241 (GRCm39) Y184H possibly damaging Het
Vmn1r235 C A 17: 21,481,713 (GRCm39) Q13K probably benign Het
Vmn2r15 A T 5: 109,440,774 (GRCm39) Y361* probably null Het
Vmn2r88 A T 14: 51,648,315 (GRCm39) probably null Het
Vps54 T C 11: 21,248,831 (GRCm39) V460A probably benign Het
Wdr64 A G 1: 175,613,147 (GRCm39) N674S possibly damaging Het
Zfp592 A G 7: 80,673,390 (GRCm39) D118G probably benign Het
Zfp763 A G 17: 33,237,625 (GRCm39) Y507H probably benign Het
Zfp934 T C 13: 62,640,705 (GRCm39) E16G probably damaging Het
Zfyve26 G A 12: 79,337,731 (GRCm39) L94F probably damaging 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
R2072:Paip1 UTSW 13 119,566,798 (GRCm39) missense possibly damaging 0.88
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
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'- GGTGGGAGAATTAATTTCCTTATGC -3'
(R):5'- TGTGCCTAAGAAGACATCAGC -3'

Sequencing Primer
(F):5'- TTTCCTTATGCCTAACAAAAACCTC -3'
(R):5'- TGATGATTCTGGGAAACACATTC -3'
Posted On 2019-10-17