Incidental Mutation 'R4681:Liph'
| ID |
350050 |
| 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 |
042015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4681 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
21772567-21814408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 21802777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 97
(S97R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060673]
[ENSMUST00000074230]
[ENSMUST00000231682]
[ENSMUST00000231766]
|
| AlphaFold |
Q8CIV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060673
AA Change: S97R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: S97R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
11 |
326 |
6.8e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074230
AA Change: S97R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: S97R
| 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
AA Change: S97R
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231766
AA Change: S97R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
T |
1: 179,580,361 (GRCm39) |
T1947K |
probably benign |
Het |
| Ak9 |
A |
C |
10: 41,303,234 (GRCm39) |
K1669T |
unknown |
Het |
| Atp4b |
T |
C |
8: 13,439,700 (GRCm39) |
E174G |
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,787,203 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
G |
5: 150,475,863 (GRCm39) |
|
probably null |
Het |
| Btnl4 |
A |
T |
17: 34,689,075 (GRCm39) |
|
probably null |
Het |
| C4a |
G |
T |
17: 35,036,075 (GRCm39) |
|
noncoding transcript |
Het |
| Cab39l |
A |
G |
14: 59,737,054 (GRCm39) |
D58G |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 29,015,092 (GRCm39) |
M100K |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,960,624 (GRCm39) |
Y127* |
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,818,194 (GRCm39) |
N86S |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,953 (GRCm39) |
I479V |
possibly damaging |
Het |
| Cfhr1 |
A |
T |
1: 139,478,667 (GRCm39) |
Y53* |
probably null |
Het |
| Cgrrf1 |
A |
G |
14: 47,091,283 (GRCm39) |
E269G |
probably benign |
Het |
| Cimap3 |
C |
A |
3: 105,905,701 (GRCm39) |
G148C |
probably damaging |
Het |
| Clcn7 |
A |
T |
17: 25,376,935 (GRCm39) |
H636L |
probably damaging |
Het |
| Cox10 |
T |
G |
11: 63,867,277 (GRCm39) |
T240P |
possibly damaging |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dbt |
A |
G |
3: 116,326,963 (GRCm39) |
D104G |
probably damaging |
Het |
| F730035P03Rik |
T |
C |
7: 99,429,425 (GRCm39) |
|
noncoding transcript |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,178,771 (GRCm39) |
K185R |
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,941,491 (GRCm39) |
L128P |
probably damaging |
Het |
| Gbf1 |
A |
T |
19: 46,268,989 (GRCm39) |
Q1381L |
probably benign |
Het |
| Glp2r |
C |
T |
11: 67,621,453 (GRCm39) |
|
probably null |
Het |
| Gm18025 |
A |
G |
12: 34,340,884 (GRCm39) |
S70P |
probably benign |
Het |
| Gpr45 |
A |
G |
1: 43,072,068 (GRCm39) |
D237G |
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,441,678 (GRCm39) |
L1213F |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,233,103 (GRCm39) |
V1734A |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,054,397 (GRCm39) |
S516T |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,756,139 (GRCm39) |
T68A |
unknown |
Het |
| Nsun7 |
T |
A |
5: 66,418,542 (GRCm39) |
S91T |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,413 (GRCm39) |
T28A |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,337,433 (GRCm39) |
I227V |
probably damaging |
Het |
| Pcdh20 |
A |
T |
14: 88,705,052 (GRCm39) |
N749K |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,961,831 (GRCm39) |
D582E |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,062,325 (GRCm39) |
I1212T |
probably benign |
Het |
| Ramp1 |
T |
C |
1: 91,124,511 (GRCm39) |
V24A |
probably benign |
Het |
| S100a8 |
T |
A |
3: 90,576,890 (GRCm39) |
D14E |
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,414,369 (GRCm39) |
D501G |
probably benign |
Het |
| Tbc1d19 |
G |
A |
5: 54,029,595 (GRCm39) |
V319M |
probably damaging |
Het |
| Tbcel |
G |
T |
9: 42,361,268 (GRCm39) |
H93Q |
probably damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Trpm8 |
A |
T |
1: 88,312,427 (GRCm39) |
I1103F |
possibly damaging |
Het |
| Ttc19 |
T |
A |
11: 62,199,917 (GRCm39) |
C112* |
probably null |
Het |
| Unc5c |
T |
G |
3: 141,474,374 (GRCm39) |
|
probably null |
Het |
| Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,434,488 (GRCm39) |
I739F |
probably damaging |
Het |
| Zcchc14 |
G |
T |
8: 122,335,339 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
G |
A |
2: 91,476,131 (GRCm39) |
P341L |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,958,719 (GRCm39) |
V1166M |
possibly 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 |
|
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 |
|
R5810:Liph
|
UTSW |
16 |
21,786,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCTTGGTTTTAAGCTTCCAAACCAG -3'
(R):5'- ACCAGACTGAGCTTCCACAG -3'
Sequencing Primer
(F):5'- GCCACCAAGGTCATCTCAG -3'
(R):5'- TACAGGACTCTCCGTGAGACTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation