Incidental Mutation 'IGL00341:Pak1ip1'
ID4314
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 #IGL00341
Quality Score
Status
Chromosome13
Chromosomal Location41001023-41013015 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41008018 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 84 (T84S)
Ref Sequence ENSEMBL: ENSMUSP00000040846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046951]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046951
AA Change: T84S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000040846
Gene: ENSMUSG00000038683
AA Change: T84S

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 T A 6: 43,280,269 Y519* probably null Het
Bahcc1 A G 11: 120,272,304 Y476C probably damaging Het
Bclaf1 A T 10: 20,325,999 E295D probably damaging Het
Bend3 A G 10: 43,511,543 D644G probably damaging Het
Ccdc122 G A 14: 77,091,739 M77I probably benign Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Dnah11 T C 12: 118,198,745 R30G probably benign Het
Hoxc4 A G 15: 103,035,838 D214G probably damaging Het
Itsn2 A T 12: 4,658,027 T778S possibly damaging Het
Kcnn2 A G 18: 45,677,071 probably benign Het
Krtap5-3 G T 7: 142,201,875 probably benign Het
Lgr5 G T 10: 115,454,464 Q516K possibly damaging Het
Lrpprc T C 17: 84,750,525 K759R possibly damaging Het
Mtfr2 A G 10: 20,357,648 D321G probably damaging Het
Nip7 A G 8: 107,057,170 Y45C possibly damaging Het
Olfr1216 T C 2: 89,013,924 I47V probably benign Het
Ptpn20 C A 14: 33,622,619 R167S probably benign Het
Rab4b C T 7: 27,172,726 G190S probably damaging Het
Ropn1l T A 15: 31,443,349 D179V probably damaging Het
Shc2 C T 10: 79,621,069 R571Q probably damaging Het
Smad1 A G 8: 79,356,469 V134A probably damaging Het
Smad6 A G 9: 63,953,981 V344A probably damaging Het
Tet2 A G 3: 133,488,085 L196P possibly damaging Het
Tmem64 T A 4: 15,266,694 V248E probably damaging Het
Ttc7 C T 17: 87,363,564 T709I possibly damaging Het
Usp31 A G 7: 121,706,670 L195P probably damaging Het
Vmn2r112 G A 17: 22,618,936 V793I probably benign Het
Xpo5 T G 17: 46,225,047 L535R probably damaging Het
Ythdc2 A T 18: 44,850,397 M544L probably benign Het
Other mutations in Pak1ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Pak1ip1 APN 13 41012623 missense probably benign 0.18
IGL02327:Pak1ip1 APN 13 41012417 missense probably benign
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
R7179:Pak1ip1 UTSW 13 41009542 missense probably damaging 0.97
R7367:Pak1ip1 UTSW 13 41008895 missense probably damaging 1.00
R7487:Pak1ip1 UTSW 13 41009255 missense probably benign 0.01
Posted On2012-04-20