Incidental Mutation 'IGL03015:Lipk'
| ID |
407901 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lipk
|
| Ensembl Gene |
ENSMUSG00000024771 |
| Gene Name |
lipase, family member K |
| Synonyms |
Lipl2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
33985690-34025235 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33996108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 7
(T7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054260]
[ENSMUST00000224738]
[ENSMUST00000225505]
|
| AlphaFold |
Q8BM14 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054260
AA Change: T7A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053913
Gene: ENSMUSG00000024771
AA Change: T7A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Abhydro_lipase
|
39 |
101 |
2.8e-26 |
PFAM |
|
Pfam:Hydrolase_4
|
78 |
263 |
7.1e-10 |
PFAM |
|
Pfam:Abhydrolase_5
|
82 |
377 |
7.1e-11 |
PFAM |
|
Pfam:Abhydrolase_1
|
82 |
383 |
8.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224738
AA Change: T7A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225505
AA Change: T7A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,708,273 (GRCm39) |
W184G |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,515 (GRCm39) |
V160A |
possibly damaging |
Het |
| Cct8 |
C |
A |
16: 87,283,553 (GRCm39) |
|
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,161,103 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,277,435 (GRCm39) |
I325V |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,206,504 (GRCm39) |
V55A |
probably damaging |
Het |
| Malrd1 |
A |
C |
2: 16,047,082 (GRCm39) |
D1736A |
unknown |
Het |
| Nav3 |
T |
A |
10: 109,554,158 (GRCm39) |
I1735F |
probably damaging |
Het |
| Nmbr |
T |
A |
10: 14,636,412 (GRCm39) |
V127E |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 97,979,965 (GRCm39) |
T160A |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,169,996 (GRCm39) |
M819V |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,914 (GRCm39) |
S759P |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,741,165 (GRCm39) |
E318G |
possibly damaging |
Het |
| Selenon |
T |
C |
4: 134,272,829 (GRCm39) |
N203S |
probably benign |
Het |
| Syt13 |
A |
G |
2: 92,781,725 (GRCm39) |
I309V |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,169,147 (GRCm39) |
T1096I |
probably benign |
Het |
| Vwf |
T |
G |
6: 125,661,101 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lipk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02473:Lipk
|
APN |
19 |
34,016,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Lipk
|
APN |
19 |
34,024,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0240:Lipk
|
UTSW |
19 |
34,024,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Lipk
|
UTSW |
19 |
34,024,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1456:Lipk
|
UTSW |
19 |
34,024,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Lipk
|
UTSW |
19 |
34,016,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2149:Lipk
|
UTSW |
19 |
33,999,017 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2988:Lipk
|
UTSW |
19 |
33,999,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Lipk
|
UTSW |
19 |
34,017,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3715:Lipk
|
UTSW |
19 |
34,017,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3741:Lipk
|
UTSW |
19 |
33,999,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4229:Lipk
|
UTSW |
19 |
33,997,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Lipk
|
UTSW |
19 |
33,999,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Lipk
|
UTSW |
19 |
34,009,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Lipk
|
UTSW |
19 |
33,997,613 (GRCm39) |
splice site |
probably null |
|
|
R5661:Lipk
|
UTSW |
19 |
34,009,727 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5887:Lipk
|
UTSW |
19 |
34,016,507 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6967:Lipk
|
UTSW |
19 |
34,017,794 (GRCm39) |
nonsense |
probably null |
|
|
R8465:Lipk
|
UTSW |
19 |
34,024,197 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8724:Lipk
|
UTSW |
19 |
33,996,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8747:Lipk
|
UTSW |
19 |
33,996,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Lipk
|
UTSW |
19 |
33,999,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Lipk
|
UTSW |
19 |
33,999,101 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation