Incidental Mutation 'R2988:Lipk'
| ID |
257851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipk
|
| Ensembl Gene |
ENSMUSG00000024771 |
| Gene Name |
lipase, family member K |
| Synonyms |
Lipl2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2988 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
33985690-34025235 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33999137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 139
(F139S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054260]
[ENSMUST00000224738]
[ENSMUST00000225505]
|
| AlphaFold |
Q8BM14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054260
AA Change: F144S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053913
Gene: ENSMUSG00000024771
AA Change: F144S
| 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
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225505
AA Change: F139S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
C |
A |
12: 80,239,162 (GRCm39) |
A248S |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,757,088 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Exoc6b |
T |
A |
6: 84,828,929 (GRCm39) |
K485I |
probably damaging |
Het |
| Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,552,172 (GRCm39) |
I940F |
probably benign |
Het |
| Nr1h3 |
T |
C |
2: 91,015,349 (GRCm39) |
N285S |
probably damaging |
Het |
| Or1r1 |
C |
A |
11: 73,874,627 (GRCm39) |
R269L |
probably benign |
Het |
| Or5p60 |
G |
A |
7: 107,724,045 (GRCm39) |
Q142* |
probably null |
Het |
| Ptpro |
C |
T |
6: 137,420,597 (GRCm39) |
Q188* |
probably null |
Het |
| Skic3 |
T |
A |
13: 76,303,808 (GRCm39) |
M1242K |
probably benign |
Het |
| Slc22a8 |
A |
G |
19: 8,587,612 (GRCm39) |
T529A |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,682,709 (GRCm39) |
S591T |
probably benign |
Het |
| Tmem161b |
C |
T |
13: 84,440,574 (GRCm39) |
R149* |
probably null |
Het |
| Trp53 |
T |
C |
11: 69,479,332 (GRCm39) |
V170A |
probably damaging |
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 |
|
IGL03015:Lipk
|
APN |
19 |
33,996,108 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTTTTCCAGCTCCGAAG -3'
(R):5'- CAGTCAGTCACACCAGGAAG -3'
Sequencing Primer
(F):5'- AAGGCAGTTGTGTATCTGCAGC -3'
(R):5'- GTCAGTCACACCAGGAAGGAAAC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation