Incidental Mutation 'R9490:Pip5kl1'
ID 716877
Institutional Source Beutler Lab
Gene Symbol Pip5kl1
Ensembl Gene ENSMUSG00000046854
Gene Name phosphatidylinositol-4-phosphate 5-kinase-like 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R9490 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32465238-32473799 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32466667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 12 (P12L)
Ref Sequence ENSEMBL: ENSMUSP00000051282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000055304] [ENSMUST00000100188] [ENSMUST00000100190] [ENSMUST00000140592]
AlphaFold Q6U7H8
Predicted Effect probably benign
Transcript: ENSMUST00000028151
SMART Domains Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

DomainStartEndE-ValueType
Pfam:DPM2 5 80 4.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055304
AA Change: P12L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051282
Gene: ENSMUSG00000046854
AA Change: P12L

DomainStartEndE-ValueType
Pfam:PIP5K 127 393 4.2e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100188
AA Change: P54L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097763
Gene: ENSMUSG00000046854
AA Change: P54L

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

DomainStartEndE-ValueType
Pfam:DPM2 5 68 3e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,834,601 (GRCm39) D167G probably benign Het
Arhgef37 G T 18: 61,641,907 (GRCm39) P154Q probably damaging Het
Chsy3 A T 18: 59,312,486 (GRCm39) S320C probably damaging Het
Col1a2 C A 6: 4,505,901 (GRCm39) T21K unknown Het
Ctcfl A T 2: 172,960,548 (GRCm39) Y12N probably benign Het
Cyria A G 12: 12,390,727 (GRCm39) E13G probably benign Het
Disp1 A G 1: 182,871,092 (GRCm39) Y443H probably benign Het
Dock2 T A 11: 34,589,582 (GRCm39) T492S possibly damaging Het
Edil3 G A 13: 89,347,591 (GRCm39) C382Y probably benign Het
Fancd2 A G 6: 113,555,416 (GRCm39) K1142E probably damaging Het
Fibcd1 T A 2: 31,723,815 (GRCm39) T275S possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gm7298 G A 6: 121,751,083 (GRCm39) R720H probably benign Het
Hivep1 A T 13: 42,311,518 (GRCm39) T1253S probably damaging Het
Kif15 A G 9: 122,788,203 (GRCm39) N14S probably benign Het
Ldhc G A 7: 46,519,184 (GRCm39) V136I probably damaging Het
Madd T C 2: 91,008,501 (GRCm39) S134G probably benign Het
Map3k5 T C 10: 20,007,797 (GRCm39) S1209P probably benign Het
Mapre2 A G 18: 23,986,764 (GRCm39) K101E possibly damaging Het
Muc16 T A 9: 18,568,149 (GRCm39) R1457* probably null Het
Muc5b T C 7: 141,425,497 (GRCm39) V4714A probably benign Het
Pcdhgb5 T C 18: 37,865,240 (GRCm39) V345A probably benign Het
Phkb T C 8: 86,628,525 (GRCm39) F170S probably damaging Het
Pramel14 T A 4: 143,719,606 (GRCm39) N253I probably benign Het
Prmt2 G A 10: 76,053,227 (GRCm39) P263S probably damaging Het
Rab44 C T 17: 29,354,065 (GRCm39) probably benign Het
Rad9a C T 19: 4,247,547 (GRCm39) G200R probably damaging Het
Ralgapb A G 2: 158,334,350 (GRCm39) T1354A probably benign Het
Rere A G 4: 150,516,040 (GRCm39) D111G probably benign Het
Rnase2b A T 14: 51,400,284 (GRCm39) T122S probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc26a2 C G 18: 61,331,881 (GRCm39) V517L probably benign Het
Spock2 A G 10: 59,961,641 (GRCm39) K195R probably benign Het
Tgm7 T A 2: 120,928,867 (GRCm39) D343V probably damaging Het
Tmf1 T C 6: 97,137,227 (GRCm39) T910A probably benign Het
Ttc3 T C 16: 94,245,360 (GRCm39) V1457A probably benign Het
Wdfy3 A G 5: 102,078,716 (GRCm39) V862A probably benign Het
Other mutations in Pip5kl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Pip5kl1 APN 2 32,473,359 (GRCm39) missense probably benign 0.12
IGL03074:Pip5kl1 APN 2 32,470,353 (GRCm39) missense probably damaging 0.97
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
R9726:Pip5kl1 UTSW 2 32,473,391 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTGGCCCCTCAAACACTGG -3'
(R):5'- AGACAGGATGGGCCATTCAC -3'

Sequencing Primer
(F):5'- GGACTATAGCTATAGTGTTAGCCC -3'
(R):5'- ATGGGCCATTCACCGTGG -3'
Posted On 2022-07-18