Incidental Mutation 'IGL03235:Pip5kl1'
| ID |
414039 |
| 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)
|
| Stock # |
IGL03235
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32465238-32473799 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32468166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| 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 |
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
A |
G |
11: 83,232,210 (GRCm39) |
N461S |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,320 (GRCm39) |
V1345E |
probably damaging |
Het |
| Ccdc60 |
T |
A |
5: 116,269,205 (GRCm39) |
M472L |
probably benign |
Het |
| Cenpf |
C |
T |
1: 189,416,124 (GRCm39) |
R67K |
probably damaging |
Het |
| Cfap45 |
A |
T |
1: 172,366,060 (GRCm39) |
R304S |
possibly damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,776,172 (GRCm39) |
|
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,353,357 (GRCm39) |
D104G |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,273,621 (GRCm39) |
S849G |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
| Glt28d2 |
A |
T |
3: 85,779,109 (GRCm39) |
H121Q |
possibly damaging |
Het |
| Hacl1 |
C |
T |
14: 31,352,995 (GRCm39) |
W106* |
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,486,141 (GRCm39) |
S376P |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,378,264 (GRCm39) |
Y289C |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,977,967 (GRCm39) |
T114A |
probably benign |
Het |
| Ntrk3 |
C |
A |
7: 77,842,340 (GRCm39) |
K829N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,414 (GRCm39) |
V23E |
possibly damaging |
Het |
| Pcdhgc5 |
A |
T |
18: 37,953,151 (GRCm39) |
I142F |
probably damaging |
Het |
| Rgs19 |
T |
C |
2: 181,331,525 (GRCm39) |
K93R |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,845 (GRCm39) |
V129E |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,989,241 (GRCm39) |
L299P |
probably damaging |
Het |
| Tle2 |
T |
C |
10: 81,422,085 (GRCm39) |
S353P |
probably benign |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,298 (GRCm39) |
V84A |
probably benign |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,746 (GRCm39) |
K266* |
probably null |
Het |
| Wwtr1 |
C |
A |
3: 57,384,954 (GRCm39) |
V255F |
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 |
|
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 |
Incidental Mutation