Incidental Mutation 'IGL03074:Pip5kl1'
ID 417630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pip5kl1
Ensembl Gene ENSMUSG00000046854
Gene Name phosphatidylinositol-4-phosphate 5-kinase-like 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL03074
Quality Score
Status
Chromosome 2
Chromosomal Location 32465238-32473799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32470353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 278 (N278D)
Ref Sequence ENSEMBL: ENSMUSP00000051282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190]
AlphaFold Q6U7H8
Predicted Effect probably damaging
Transcript: ENSMUST00000055304
AA Change: N278D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: N278D

DomainStartEndE-ValueType
Pfam:PIP5K 127 393 4.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100188
AA Change: N320D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: N320D

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,201,101 (GRCm39) Y433F probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Anks4b A T 7: 119,781,140 (GRCm39) D57V probably damaging Het
Brwd1 A G 16: 95,813,050 (GRCm39) V1486A probably benign Het
Cd163 A G 6: 124,294,945 (GRCm39) T670A probably benign Het
Dmtf1 T C 5: 9,174,435 (GRCm39) probably benign Het
Dnajc22 T A 15: 98,999,403 (GRCm39) L196Q probably damaging Het
Dock9 A G 14: 121,844,682 (GRCm39) L1097P possibly damaging Het
Dtna T C 18: 23,735,662 (GRCm39) V339A possibly damaging Het
Dysf T A 6: 84,165,208 (GRCm39) S1646T probably benign Het
Ermp1 A T 19: 29,589,935 (GRCm39) Y893N probably damaging Het
Etv6 A T 6: 134,199,888 (GRCm39) N76I probably damaging Het
Farp2 T C 1: 93,488,049 (GRCm39) V92A probably benign Het
Fgf21 T C 7: 45,263,605 (GRCm39) T158A probably benign Het
Gcm1 T C 9: 77,972,057 (GRCm39) S333P possibly damaging Het
Grm7 T A 6: 111,472,604 (GRCm39) probably null Het
Itgae T C 11: 73,016,136 (GRCm39) F782L probably benign Het
Kbtbd8 A G 6: 95,099,333 (GRCm39) T204A probably damaging Het
Kcp A G 6: 29,496,630 (GRCm39) C627R probably damaging Het
Loxhd1 T C 18: 77,529,480 (GRCm39) V2041A possibly damaging Het
Mcm5 T C 8: 75,845,929 (GRCm39) M379T possibly damaging Het
Mcu A G 10: 59,303,580 (GRCm39) S86P probably damaging Het
Naa25 T C 5: 121,546,400 (GRCm39) probably null Het
Or10ag59 T A 2: 87,405,680 (GRCm39) L84H possibly damaging Het
Or5b117 A G 19: 13,431,417 (GRCm39) S155P probably damaging Het
Osbpl9 T C 4: 108,929,158 (GRCm39) H400R probably damaging Het
Ppp1r12b T C 1: 134,763,758 (GRCm39) T759A probably benign Het
Psg27 T C 7: 18,294,454 (GRCm39) T318A probably benign Het
Rtkn2 T G 10: 67,877,551 (GRCm39) L537R probably damaging Het
Sdr39u1 C T 14: 56,137,103 (GRCm39) probably null Het
Slc38a1 A T 15: 96,490,405 (GRCm39) I124N possibly damaging Het
Sumf2 T A 5: 129,888,674 (GRCm39) probably benign Het
Thsd7a A G 6: 12,324,680 (GRCm39) Y1464H probably damaging Het
Unc80 C T 1: 66,710,877 (GRCm39) probably benign Het
Zfp366 A G 13: 99,382,913 (GRCm39) D692G probably benign Het
Other mutations in Pip5kl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Pip5kl1 APN 2 32,473,359 (GRCm39) missense probably benign 0.12
IGL03115:Pip5kl1 APN 2 32,470,033 (GRCm39) missense probably damaging 1.00
IGL03235:Pip5kl1 APN 2 32,468,166 (GRCm39) missense probably damaging 0.99
PIT4280001:Pip5kl1 UTSW 2 32,473,470 (GRCm39) missense probably benign 0.06
R0149:Pip5kl1 UTSW 2 32,468,966 (GRCm39) missense possibly damaging 0.70
R0416:Pip5kl1 UTSW 2 32,473,436 (GRCm39) nonsense probably null
R1500:Pip5kl1 UTSW 2 32,466,691 (GRCm39) missense probably benign 0.38
R1887:Pip5kl1 UTSW 2 32,468,517 (GRCm39) missense probably damaging 1.00
R2897:Pip5kl1 UTSW 2 32,473,359 (GRCm39) missense probably benign 0.12
R3824:Pip5kl1 UTSW 2 32,473,283 (GRCm39) splice site probably null
R3937:Pip5kl1 UTSW 2 32,469,124 (GRCm39) missense probably damaging 1.00
R5378:Pip5kl1 UTSW 2 32,469,106 (GRCm39) missense probably benign 0.02
R7257:Pip5kl1 UTSW 2 32,470,443 (GRCm39) critical splice donor site probably null
R7414:Pip5kl1 UTSW 2 32,468,247 (GRCm39) missense possibly damaging 0.69
R7735:Pip5kl1 UTSW 2 32,469,101 (GRCm39) missense possibly damaging 0.70
R8073:Pip5kl1 UTSW 2 32,473,440 (GRCm39) missense possibly damaging 0.92
R8472:Pip5kl1 UTSW 2 32,470,018 (GRCm39) missense probably benign 0.20
R8877:Pip5kl1 UTSW 2 32,468,951 (GRCm39) missense possibly damaging 0.70
R8899:Pip5kl1 UTSW 2 32,469,082 (GRCm39) missense probably benign 0.04
R8953:Pip5kl1 UTSW 2 32,469,991 (GRCm39) missense possibly damaging 0.67
R9234:Pip5kl1 UTSW 2 32,468,211 (GRCm39) missense probably benign 0.01
R9490:Pip5kl1 UTSW 2 32,466,667 (GRCm39) missense probably benign
R9726:Pip5kl1 UTSW 2 32,473,391 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02