Incidental Mutation 'IGL02327:Pak1ip1'
ID288518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pak1ip1
Ensembl Gene ENSMUSG00000038683
Gene NamePAK1 interacting protein 1
Synonyms5830431I15Rik, Gdpd1, 5930415H02Rik, p21-activated protein kinase-interacting protein 1, PIP1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02327
Quality Score
Status
Chromosome13
Chromosomal Location41001023-41013015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 41012417 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 308 (N308K)
Ref Sequence ENSEMBL: ENSMUSP00000040846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021790] [ENSMUST00000046951]
Predicted Effect probably benign
Transcript: ENSMUST00000021790
SMART Domains Protein: ENSMUSP00000021790
Gene: ENSMUSG00000021361

DomainStartEndE-ValueType
Pfam:Tmemb_14 13 104 1.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046951
AA Change: N308K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: N308K

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: ENSMUST00000173238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174551
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,977,415 C29S probably damaging Het
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Pak1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Pak1ip1 APN 13 41008018 missense possibly damaging 0.66
IGL00848:Pak1ip1 APN 13 41012623 missense probably benign 0.18
R0383:Pak1ip1 UTSW 13 41012604 missense probably benign 0.00
R1706:Pak1ip1 UTSW 13 41012688 missense probably benign 0.00
R1851:Pak1ip1 UTSW 13 41011232 missense possibly damaging 0.90
R1852:Pak1ip1 UTSW 13 41011232 missense possibly damaging 0.90
R4255:Pak1ip1 UTSW 13 41011156 intron probably benign
R4326:Pak1ip1 UTSW 13 41004756 missense possibly damaging 0.82
R5062:Pak1ip1 UTSW 13 41008145 splice site probably benign
R5929:Pak1ip1 UTSW 13 41004800 missense probably benign 0.42
R6101:Pak1ip1 UTSW 13 41004885 missense probably damaging 1.00
R6105:Pak1ip1 UTSW 13 41004885 missense probably damaging 1.00
R6198:Pak1ip1 UTSW 13 41001410 missense probably benign
Posted On2015-04-16