Incidental Mutation 'IGL03115:Pip5kl1'
ID419392
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: 0.098) question?
Stock #IGL03115
Quality Score
Status
Chromosome2
Chromosomal Location32574797-32583782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32580021 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 288 (D288G)
Ref Sequence ENSEMBL: ENSMUSP00000097763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190]
Predicted Effect probably damaging
Transcript: ENSMUST00000055304
AA Change: D246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: D246G

DomainStartEndE-ValueType
Pfam:PIP5K 127 393 4.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100188
AA Change: D288G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: D288G

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,571,353 H302L probably damaging Het
Adamts12 T A 15: 11,263,336 C595S probably damaging Het
Arid2 G A 15: 96,370,273 V756I probably damaging Het
Asah1 A T 8: 41,360,299 W26R possibly damaging Het
Brinp1 C T 4: 68,904,736 probably null Het
Cers2 A G 3: 95,321,352 D162G probably damaging Het
Clasp1 G T 1: 118,501,323 E106* probably null Het
Col12a1 T C 9: 79,681,437 E1132G probably damaging Het
Dhdds G T 4: 133,982,871 H196N probably benign Het
Eps8 T C 6: 137,527,381 D118G probably damaging Het
Fmo9 A G 1: 166,677,651 S7P probably damaging Het
Gamt A G 10: 80,258,438 L197P probably damaging Het
Grb7 A G 11: 98,451,119 I82V probably damaging Het
Hectd2 T C 19: 36,599,721 probably null Het
Ilk T C 7: 105,740,335 V83A probably damaging Het
Kif21a T A 15: 90,985,395 I418F probably damaging Het
Kndc1 A G 7: 139,921,509 I905V probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Morc3 T C 16: 93,871,083 I710T probably damaging Het
Nefm T C 14: 68,120,279 probably benign Het
Olfr452 A G 6: 42,790,665 T209A probably benign Het
Olfr937 C A 9: 39,059,963 R234S probably damaging Het
Olfr975 T C 9: 39,950,744 E9G probably damaging Het
Pard6g T G 18: 80,079,853 L34W probably damaging Het
Patj C T 4: 98,443,803 S562L probably damaging Het
Pcsk4 A G 10: 80,329,049 I61T probably damaging Het
Pcsk7 T A 9: 45,914,372 H300Q probably damaging Het
Plxnb2 T A 15: 89,162,438 probably benign Het
Poldip2 T C 11: 78,521,144 probably benign Het
Ralgapa2 T C 2: 146,424,814 Y614C probably damaging Het
Rarres1 C A 3: 67,495,812 probably null Het
Samd3 C T 10: 26,271,708 T427M probably damaging Het
Skap1 A G 11: 96,702,620 I98V probably benign Het
Skint11 T C 4: 114,244,623 S87P probably damaging Het
Slc22a22 T G 15: 57,263,274 E133A probably damaging Het
Slc23a2 T C 2: 132,091,265 Y91C probably damaging Het
Slc6a20b T A 9: 123,597,338 E494V possibly damaging Het
Slco1a4 A C 6: 141,817,859 M377R probably damaging Het
Slco1a4 A T 6: 141,819,603 D304E probably benign Het
Srpk2 T C 5: 23,524,618 probably null Het
Supt3 T G 17: 45,041,227 C271W probably damaging Het
Taar7d C A 10: 24,027,641 F140L probably benign Het
Tmbim7 T C 5: 3,679,158 *225Q probably null Het
Tpst1 T C 5: 130,101,911 I74T probably damaging Het
Utp3 T C 5: 88,555,320 V236A possibly damaging Het
Vmn2r55 A T 7: 12,670,631 F282I probably damaging Het
Vwa5b1 A T 4: 138,600,149 I372N possibly damaging Het
Wtip C T 7: 34,125,533 A209T probably damaging Het
Zbbx T C 3: 75,078,560 D395G probably benign Het
Zfp273 A T 13: 67,825,650 H299L probably damaging Het
Zfp459 G A 13: 67,408,677 R96* probably null 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
IGL03235:Pip5kl1 APN 2 32578154 missense probably damaging 0.99
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 unclassified 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
Posted On2016-08-02