Incidental Mutation 'R4229:Lipk'
| ID |
320146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lipk
|
| Ensembl Gene |
ENSMUSG00000024771 |
| Gene Name |
lipase, family member K |
| Synonyms |
Lipl2 |
| MMRRC Submission |
041048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
33985690-34025235 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33997687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 56
(Y56C)
|
| 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: Y61C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053913
Gene: ENSMUSG00000024771
AA Change: Y61C
| 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: Y56C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8219 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,939,234 (GRCm39) |
K3E |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,413 (GRCm39) |
S533P |
probably damaging |
Het |
| Dsc3 |
G |
A |
18: 20,098,878 (GRCm39) |
T767I |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,038,740 (GRCm39) |
M221K |
probably damaging |
Het |
| Etfb |
C |
A |
7: 43,105,984 (GRCm39) |
R174S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,654,308 (GRCm39) |
S385T |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,451,975 (GRCm39) |
D339G |
probably benign |
Het |
| H2-T24 |
G |
A |
17: 36,325,721 (GRCm39) |
A290V |
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Mrpl21 |
A |
G |
19: 3,336,901 (GRCm39) |
I91V |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,097,984 (GRCm39) |
E492G |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Or1e1 |
A |
T |
11: 73,245,058 (GRCm39) |
T160S |
probably damaging |
Het |
| Or4k36 |
A |
G |
2: 111,146,681 (GRCm39) |
I286V |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,233,227 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Plaur |
T |
C |
7: 24,166,208 (GRCm39) |
V93A |
probably damaging |
Het |
| Ptprv |
C |
A |
1: 135,053,945 (GRCm39) |
|
noncoding transcript |
Het |
| Rabep1 |
A |
G |
11: 70,799,260 (GRCm39) |
T295A |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Set |
A |
G |
2: 29,959,531 (GRCm39) |
Y139C |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,246,610 (GRCm39) |
|
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Zfp148 |
A |
G |
16: 33,255,133 (GRCm39) |
E41G |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,618,544 (GRCm39) |
S534P |
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 |
|
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 |
|
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'- TGGTAACACTAAGCCCACAGG -3'
(R):5'- AGGTACTATTGCGATGAGGGC -3'
Sequencing Primer
(F):5'- AGAGTCCTTCCAACCATATGTTAC -3'
(R):5'- ACTATTGCGATGAGGGCTTATTTCC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation