Incidental Mutation 'R5810:Liph'
ID |
447489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Liph
|
Ensembl Gene |
ENSMUSG00000044626 |
Gene Name |
lipase, member H |
Synonyms |
C130037N08Rik, Lpdlr, PLA1B, mPA-PLA1, LPDLR, D16Wsu119e |
MMRRC Submission |
043395-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5810 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21772567-21814408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21786860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 252
(L252Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060673]
[ENSMUST00000074230]
[ENSMUST00000231682]
[ENSMUST00000231766]
|
AlphaFold |
Q8CIV3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060673
AA Change: L254Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062310 Gene: ENSMUSG00000044626 AA Change: L254Q
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
11 |
326 |
6.8e-82 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074230
AA Change: L224Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073853 Gene: ENSMUSG00000044626 AA Change: L224Q
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
15 |
214 |
1.5e-45 |
PFAM |
Pfam:Abhydrolase_6
|
73 |
296 |
2.3e-6 |
PFAM |
Pfam:Lipase
|
209 |
296 |
1.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231682
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231766
AA Change: L252Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232120
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232673
|
Meta Mutation Damage Score |
0.9686 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
100% (66/66) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit wavy vibrissae and wavy and matted coats associated with impaired inner rooth sheath formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,079,631 (GRCm39) |
F866L |
probably benign |
Het |
Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
Actl11 |
C |
T |
9: 107,806,420 (GRCm39) |
P248S |
probably benign |
Het |
Actr3 |
A |
G |
1: 125,344,116 (GRCm39) |
|
probably benign |
Het |
Baz1a |
G |
A |
12: 54,974,500 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
Bpifa5 |
G |
A |
2: 154,005,638 (GRCm39) |
|
probably null |
Het |
Car13 |
A |
C |
3: 14,706,828 (GRCm39) |
|
probably null |
Het |
Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
Cnnm3 |
A |
G |
1: 36,564,280 (GRCm39) |
E704G |
probably benign |
Het |
Cyp4f14 |
T |
A |
17: 33,125,072 (GRCm39) |
I450F |
possibly damaging |
Het |
Ddhd1 |
G |
T |
14: 45,840,164 (GRCm39) |
T710N |
probably damaging |
Het |
Ddx60 |
C |
T |
8: 62,465,422 (GRCm39) |
Q1360* |
probably null |
Het |
Dlg5 |
A |
G |
14: 24,196,322 (GRCm39) |
V1625A |
probably damaging |
Het |
Dst |
G |
A |
1: 34,222,121 (GRCm39) |
|
probably benign |
Het |
Dyrk2 |
G |
T |
10: 118,696,245 (GRCm39) |
H338N |
probably benign |
Het |
Epb41l1 |
A |
T |
2: 156,341,575 (GRCm39) |
I187F |
probably damaging |
Het |
Esd |
A |
G |
14: 74,983,051 (GRCm39) |
D221G |
probably damaging |
Het |
Fam53b |
T |
A |
7: 132,361,893 (GRCm39) |
N45I |
probably damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Fryl |
A |
T |
5: 73,248,098 (GRCm39) |
D1006E |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,818,894 (GRCm39) |
V232A |
probably damaging |
Het |
Gm28308 |
C |
A |
6: 52,190,196 (GRCm39) |
|
probably benign |
Het |
Gpatch1 |
G |
A |
7: 34,994,796 (GRCm39) |
A490V |
probably benign |
Het |
Hoxa7 |
T |
C |
6: 52,193,004 (GRCm39) |
D128G |
probably benign |
Het |
Igdcc4 |
A |
G |
9: 65,035,977 (GRCm39) |
T751A |
probably damaging |
Het |
Igsf10 |
G |
A |
3: 59,226,492 (GRCm39) |
L2394F |
probably damaging |
Het |
Il15ra |
A |
G |
2: 11,738,063 (GRCm39) |
|
probably null |
Het |
Il17re |
C |
T |
6: 113,446,557 (GRCm39) |
A436V |
probably damaging |
Het |
Krtap19-2 |
T |
C |
16: 88,671,124 (GRCm39) |
|
probably benign |
Het |
Larp7-ps |
A |
T |
4: 92,079,820 (GRCm39) |
|
probably null |
Het |
Lgals12 |
T |
C |
19: 7,584,085 (GRCm39) |
D4G |
probably benign |
Het |
Mtg1 |
T |
A |
7: 139,725,898 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
G |
5: 112,982,316 (GRCm39) |
L1139P |
probably damaging |
Het |
Ninl |
T |
C |
2: 150,792,088 (GRCm39) |
R812G |
probably benign |
Het |
Npm3 |
A |
G |
19: 45,736,644 (GRCm39) |
I165T |
possibly damaging |
Het |
Or1e22 |
G |
T |
11: 73,376,921 (GRCm39) |
S243* |
probably null |
Het |
Osbpl9 |
A |
G |
4: 108,943,571 (GRCm39) |
V231A |
probably benign |
Het |
Pgam2 |
T |
C |
11: 5,753,417 (GRCm39) |
H91R |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,270,897 (GRCm39) |
W3219R |
probably benign |
Het |
Procr |
A |
G |
2: 155,593,327 (GRCm39) |
K4E |
possibly damaging |
Het |
Slc22a16 |
C |
T |
10: 40,471,314 (GRCm39) |
T495I |
possibly damaging |
Het |
Slc22a6 |
A |
G |
19: 8,601,222 (GRCm39) |
K425E |
probably damaging |
Het |
Slco6c1 |
A |
T |
1: 97,003,598 (GRCm39) |
C500S |
probably damaging |
Het |
Snrpd2 |
G |
T |
7: 18,886,447 (GRCm39) |
V77F |
probably benign |
Het |
Sp100 |
G |
A |
1: 85,593,006 (GRCm39) |
G145D |
probably benign |
Het |
Spg7 |
G |
A |
8: 123,821,308 (GRCm39) |
E678K |
possibly damaging |
Het |
Ssh1 |
T |
C |
5: 114,084,627 (GRCm39) |
K538E |
probably benign |
Het |
Sspo |
C |
T |
6: 48,460,832 (GRCm39) |
R3356W |
probably benign |
Het |
Stx1a |
G |
T |
5: 135,077,932 (GRCm39) |
V255F |
probably damaging |
Het |
Tbc1d13 |
C |
A |
2: 30,032,380 (GRCm39) |
Q164K |
probably benign |
Het |
Tfpi |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA |
2: 84,264,768 (GRCm39) |
|
probably benign |
Het |
Tpm2 |
T |
C |
4: 43,518,968 (GRCm39) |
|
probably benign |
Het |
Triobp |
T |
C |
15: 78,852,467 (GRCm39) |
C874R |
probably benign |
Het |
Tymp |
T |
A |
15: 89,258,534 (GRCm39) |
H269L |
probably damaging |
Het |
Vmn1r194 |
T |
A |
13: 22,428,597 (GRCm39) |
Y71* |
probably null |
Het |
Vmn2r102 |
T |
C |
17: 19,897,804 (GRCm39) |
V273A |
probably benign |
Het |
Vmn2r2 |
A |
T |
3: 64,024,815 (GRCm39) |
C589S |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,643,688 (GRCm39) |
T2063A |
probably benign |
Het |
Ywhaz |
T |
C |
15: 36,775,510 (GRCm39) |
I217M |
probably damaging |
Het |
Zfp322a |
A |
C |
13: 23,541,579 (GRCm39) |
Y54* |
probably null |
Het |
Zswim9 |
A |
T |
7: 12,994,662 (GRCm39) |
V498D |
probably damaging |
Het |
|
Other mutations in Liph |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00571:Liph
|
APN |
16 |
21,786,890 (GRCm39) |
missense |
probably damaging |
1.00 |
babyback
|
UTSW |
16 |
21,802,707 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4131001:Liph
|
UTSW |
16 |
21,814,119 (GRCm39) |
start codon destroyed |
probably null |
0.59 |
R0004:Liph
|
UTSW |
16 |
21,802,944 (GRCm39) |
nonsense |
probably null |
|
R0045:Liph
|
UTSW |
16 |
21,786,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Liph
|
UTSW |
16 |
21,786,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R0348:Liph
|
UTSW |
16 |
21,786,730 (GRCm39) |
splice site |
probably null |
|
R0689:Liph
|
UTSW |
16 |
21,786,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Liph
|
UTSW |
16 |
21,814,100 (GRCm39) |
missense |
probably benign |
0.05 |
R1104:Liph
|
UTSW |
16 |
21,802,898 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1779:Liph
|
UTSW |
16 |
21,786,800 (GRCm39) |
missense |
probably benign |
0.01 |
R2323:Liph
|
UTSW |
16 |
21,802,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R3913:Liph
|
UTSW |
16 |
21,781,009 (GRCm39) |
splice site |
probably benign |
|
R4402:Liph
|
UTSW |
16 |
21,795,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R4454:Liph
|
UTSW |
16 |
21,803,018 (GRCm39) |
missense |
probably benign |
0.11 |
R4672:Liph
|
UTSW |
16 |
21,802,806 (GRCm39) |
missense |
probably benign |
0.14 |
R4681:Liph
|
UTSW |
16 |
21,802,777 (GRCm39) |
missense |
probably benign |
0.02 |
R5111:Liph
|
UTSW |
16 |
21,802,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Liph
|
UTSW |
16 |
21,774,915 (GRCm39) |
nonsense |
probably null |
|
R5235:Liph
|
UTSW |
16 |
21,802,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R5642:Liph
|
UTSW |
16 |
21,784,745 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6188:Liph
|
UTSW |
16 |
21,803,018 (GRCm39) |
missense |
probably benign |
0.11 |
R6557:Liph
|
UTSW |
16 |
21,802,670 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6734:Liph
|
UTSW |
16 |
21,802,707 (GRCm39) |
missense |
probably damaging |
0.97 |
R7011:Liph
|
UTSW |
16 |
21,802,847 (GRCm39) |
missense |
probably damaging |
0.98 |
R7038:Liph
|
UTSW |
16 |
21,795,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R7178:Liph
|
UTSW |
16 |
21,795,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R7185:Liph
|
UTSW |
16 |
21,814,089 (GRCm39) |
missense |
probably benign |
0.00 |
R7198:Liph
|
UTSW |
16 |
21,784,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R7775:Liph
|
UTSW |
16 |
21,777,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R7832:Liph
|
UTSW |
16 |
21,780,986 (GRCm39) |
missense |
probably benign |
0.01 |
R7993:Liph
|
UTSW |
16 |
21,777,562 (GRCm39) |
missense |
probably benign |
0.03 |
R8264:Liph
|
UTSW |
16 |
21,802,721 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8551:Liph
|
UTSW |
16 |
21,800,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R9311:Liph
|
UTSW |
16 |
21,802,680 (GRCm39) |
missense |
probably benign |
0.01 |
R9311:Liph
|
UTSW |
16 |
21,774,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R9794:Liph
|
UTSW |
16 |
21,774,862 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACTCTGGGAACTGAAGAC -3'
(R):5'- TGAGTACATGGAAGCTTGCAG -3'
Sequencing Primer
(F):5'- CTCTGGGAACTGAAGACAAATTAAG -3'
(R):5'- CATGGAAGCTTGCAGGGAATTCTG -3'
|
Posted On |
2016-12-15 |