Incidental Mutation 'IGL03235:Pip5kl1'
ID414039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pip5kl1
Ensembl Gene ENSMUSG00000046854
Gene Namephosphatidylinositol-4-phosphate 5-kinase-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL03235
Quality Score
Status
Chromosome2
Chromosomal Location32574797-32583782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32578154 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 153 (R153G)
Ref Sequence ENSEMBL: ENSMUSP00000097763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190] [ENSMUST00000140592]
Predicted Effect probably benign
Transcript: ENSMUST00000028151
SMART Domains Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

DomainStartEndE-ValueType
Pfam:DPM2 5 80 4.2e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000055304
AA Change: R111G

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: R111G

DomainStartEndE-ValueType
Pfam:PIP5K 127 393 4.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100188
AA Change: R153G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: R153G

DomainStartEndE-ValueType
Pfam:PIP5K 165 358 4.3e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134204
Predicted Effect probably benign
Transcript: ENSMUST00000140592
SMART Domains Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810

DomainStartEndE-ValueType
Pfam:DPM2 5 68 3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150419
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PIP5KL1 is a phosphoinositide kinase-like protein that lacks intrinsic lipid kinase activity but associates with type I PIPKs (see PIP5K1A; MIM 603275) and may play a role in localization of PIPK activity (Chang et al., 2004 [PubMed 14701839]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,341,384 N461S probably benign Het
Baz1a A T 12: 54,898,535 V1345E probably damaging Het
Ccdc60 T A 5: 116,131,146 M472L probably benign Het
Cenpf C T 1: 189,683,927 R67K probably damaging Het
Cfap45 A T 1: 172,538,493 R304S possibly damaging Het
D5Ertd579e T A 5: 36,618,828 probably benign Het
Eefsec T C 6: 88,376,375 D104G probably damaging Het
Eif2ak4 A G 2: 118,443,140 S849G probably damaging Het
Frem1 G A 4: 83,020,755 T30I possibly damaging Het
Glt28d2 A T 3: 85,871,802 H121Q possibly damaging Het
Hacl1 C T 14: 31,631,038 W106* probably null Het
March6 A G 15: 31,485,995 S376P probably damaging Het
Mkrn1 T C 6: 39,401,330 Y289C probably damaging Het
Msl2 A G 9: 101,100,768 T114A probably benign Het
Ntrk3 C A 7: 78,192,592 K829N probably damaging Het
Olfr32 A T 2: 90,139,070 V23E possibly damaging Het
Pcdhgc5 A T 18: 37,820,098 I142F probably damaging Het
Rgs19 T C 2: 181,689,732 K93R probably benign Het
Slc36a4 T A 9: 15,723,549 V129E probably damaging Het
Spata13 T C 14: 60,751,792 L299P probably damaging Het
Tle2 T C 10: 81,586,251 S353P probably benign Het
Trav13-4-dv7 T C 14: 53,757,841 V84A probably benign Het
Vmn1r8 A T 6: 57,036,761 K266* probably null Het
Wwtr1 C A 3: 57,477,533 V255F probably benign Het
Other mutations in Pip5kl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Pip5kl1 APN 2 32583347 missense probably benign 0.12
IGL03074:Pip5kl1 APN 2 32580341 missense probably damaging 0.97
IGL03115:Pip5kl1 APN 2 32580021 missense probably damaging 1.00
PIT4280001:Pip5kl1 UTSW 2 32583458 missense probably benign 0.06
R0149:Pip5kl1 UTSW 2 32578954 missense possibly damaging 0.70
R0416:Pip5kl1 UTSW 2 32583424 nonsense probably null
R1500:Pip5kl1 UTSW 2 32576679 missense probably benign 0.38
R1887:Pip5kl1 UTSW 2 32578505 missense probably damaging 1.00
R2897:Pip5kl1 UTSW 2 32583347 missense probably benign 0.12
R3824:Pip5kl1 UTSW 2 32583271 splice site probably null
R3937:Pip5kl1 UTSW 2 32579112 missense probably damaging 1.00
R5378:Pip5kl1 UTSW 2 32579094 missense probably benign 0.02
R7257:Pip5kl1 UTSW 2 32580431 critical splice donor site probably null
R7414:Pip5kl1 UTSW 2 32578235 missense possibly damaging 0.69
R7735:Pip5kl1 UTSW 2 32579089 missense possibly damaging 0.70
R8073:Pip5kl1 UTSW 2 32583428 missense possibly damaging 0.92
Posted On2016-08-02