Incidental Mutation 'R6101:Pak1ip1'
ID 485271
Institutional Source Beutler Lab
Gene Symbol Pak1ip1
Ensembl Gene ENSMUSG00000038683
Gene Name PAK1 interacting protein 1
Synonyms 5830431I15Rik, p21-activated protein kinase-interacting protein 1, Gdpd1, PIP1, 5930415H02Rik
MMRRC Submission 044251-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6101 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 41154499-41166491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41158361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 78 (L78Q)
Ref Sequence ENSEMBL: ENSMUSP00000040846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046951]
AlphaFold Q9DCE5
Predicted Effect probably damaging
Transcript: ENSMUST00000046951
AA Change: L78Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: L78Q

DomainStartEndE-ValueType
WD40 29 68 6.89e-3 SMART
WD40 71 109 1.19e-6 SMART
WD40 112 151 1.59e-7 SMART
Blast:WD40 156 190 4e-10 BLAST
WD40 194 231 3.45e-1 SMART
WD40 234 275 6.89e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174551
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutagenesis exhibit median orofacial clefting, developmental delay and death around E14. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,460,775 (GRCm39) C570S probably damaging Het
Adh6b T A 3: 138,063,471 (GRCm39) I350K possibly damaging Het
Ahnak G A 19: 8,981,463 (GRCm39) V916I probably benign Het
Aldh4a1 C T 4: 139,365,806 (GRCm39) P266S possibly damaging Het
Arhgap11a G A 2: 113,665,219 (GRCm39) R460* probably null Het
Chl1 A T 6: 103,669,993 (GRCm39) D477V probably damaging Het
Clstn3 A T 6: 124,438,629 (GRCm39) L45Q probably damaging Het
Cnot7 C T 8: 40,963,078 (GRCm39) R32Q probably benign Het
Csrnp1 T C 9: 119,802,551 (GRCm39) D220G probably damaging Het
Cyb5a G A 18: 84,889,718 (GRCm39) R49Q possibly damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Glul T A 1: 153,782,177 (GRCm39) Y137* probably null Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Igha T A 12: 113,220,017 (GRCm39) probably benign Het
Kif2b A G 11: 91,466,814 (GRCm39) S490P probably benign Het
Kxd1 A T 8: 70,972,589 (GRCm39) N33K probably benign Het
Lrrk2 T C 15: 91,607,338 (GRCm39) I567T probably benign Het
Man2a2 T C 7: 80,016,749 (GRCm39) D355G probably damaging Het
Map6 T C 7: 98,917,314 (GRCm39) V29A probably damaging Het
Mical3 A T 6: 121,010,671 (GRCm39) V437D probably damaging Het
Mief1 T C 15: 80,133,941 (GRCm39) Y333H probably benign Het
Or12j4 T A 7: 140,046,432 (GRCm39) V106D probably benign Het
Or4f7 A G 2: 111,644,598 (GRCm39) F158L probably benign Het
Or8b52 A G 9: 38,576,916 (GRCm39) S75P probably damaging Het
Or8d2b T C 9: 38,788,604 (GRCm39) L44P possibly damaging Het
Pikfyve A G 1: 65,303,504 (GRCm39) probably null Het
Pinlyp C T 7: 24,245,405 (GRCm39) R5K possibly damaging Het
Pkd1l3 A G 8: 110,367,478 (GRCm39) D1225G probably damaging Het
Pnma8b T A 7: 16,680,493 (GRCm39) S492R probably benign Het
Postn A G 3: 54,279,641 (GRCm39) probably null Het
Ptprq A G 10: 107,416,127 (GRCm39) Y1724H possibly damaging Het
Rpn2 T A 2: 157,152,108 (GRCm39) probably null Het
Scn5a A G 9: 119,351,716 (GRCm39) V755A probably damaging Het
Slc22a30 T C 19: 8,315,232 (GRCm39) probably null Het
Specc1l T C 10: 75,084,466 (GRCm39) S730P probably damaging Het
Steap2 T A 5: 5,725,891 (GRCm39) I378F possibly damaging Het
Tdrd12 A T 7: 35,180,558 (GRCm39) Y818* probably null Het
Thbs4 G T 13: 92,911,993 (GRCm39) Q246K possibly damaging Het
Tnfsf10 A G 3: 27,389,698 (GRCm39) Y253C probably damaging Het
Tnpo3 G T 6: 29,588,042 (GRCm39) C125* probably null Het
Trim58 A G 11: 58,542,441 (GRCm39) N467S probably benign Het
Trpm6 C T 19: 18,831,112 (GRCm39) R1326* probably null Het
Zc3hav1l A G 6: 38,270,012 (GRCm39) V279A probably benign Het
Zfp618 A T 4: 63,051,478 (GRCm39) Q753L probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zkscan17 A T 11: 59,394,401 (GRCm39) C67S probably damaging Het
Other mutations in Pak1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Pak1ip1 APN 13 41,161,494 (GRCm39) missense possibly damaging 0.66
IGL00848:Pak1ip1 APN 13 41,166,099 (GRCm39) missense probably benign 0.18
IGL02327:Pak1ip1 APN 13 41,165,893 (GRCm39) missense probably benign
R0383:Pak1ip1 UTSW 13 41,166,080 (GRCm39) missense probably benign 0.00
R1706:Pak1ip1 UTSW 13 41,166,164 (GRCm39) missense probably benign 0.00
R1851:Pak1ip1 UTSW 13 41,164,708 (GRCm39) missense possibly damaging 0.90
R1852:Pak1ip1 UTSW 13 41,164,708 (GRCm39) missense possibly damaging 0.90
R4255:Pak1ip1 UTSW 13 41,164,632 (GRCm39) intron probably benign
R4326:Pak1ip1 UTSW 13 41,158,232 (GRCm39) missense possibly damaging 0.82
R5062:Pak1ip1 UTSW 13 41,161,621 (GRCm39) splice site probably benign
R5929:Pak1ip1 UTSW 13 41,158,276 (GRCm39) missense probably benign 0.42
R6105:Pak1ip1 UTSW 13 41,158,361 (GRCm39) missense probably damaging 1.00
R6198:Pak1ip1 UTSW 13 41,154,886 (GRCm39) missense probably benign
R7179:Pak1ip1 UTSW 13 41,163,018 (GRCm39) missense probably damaging 0.97
R7367:Pak1ip1 UTSW 13 41,162,371 (GRCm39) missense probably damaging 1.00
R7487:Pak1ip1 UTSW 13 41,162,731 (GRCm39) missense probably benign 0.01
R8217:Pak1ip1 UTSW 13 41,166,126 (GRCm39) missense probably benign 0.34
R8343:Pak1ip1 UTSW 13 41,158,214 (GRCm39) missense probably benign
R8507:Pak1ip1 UTSW 13 41,162,770 (GRCm39) missense probably benign
R9269:Pak1ip1 UTSW 13 41,162,727 (GRCm39) missense probably benign 0.00
R9746:Pak1ip1 UTSW 13 41,162,743 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCTGTTGACGATGTCC -3'
(R):5'- ATGAAAAGTCCCTGTGCCC -3'

Sequencing Primer
(F):5'- GCTGTTGACGATGTCCCCTTC -3'
(R):5'- TTAGTTGCACACATGGGACC -3'
Posted On 2017-08-16