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