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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |