Incidental Mutation 'R6734:Liph'
ID |
528363 |
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 |
044852-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6734 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21772567-21814408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21802707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 121
(S121P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060673]
[ENSMUST00000074230]
[ENSMUST00000231682]
[ENSMUST00000231766]
|
AlphaFold |
Q8CIV3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000060673
AA Change: S121P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000062310 Gene: ENSMUSG00000044626 AA Change: S121P
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
11 |
326 |
6.8e-82 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074230
AA Change: S121P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000073853 Gene: ENSMUSG00000044626 AA Change: S121P
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 |
possibly damaging
Transcript: ENSMUST00000231682
AA Change: S121P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231766
AA Change: S121P
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.2975 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (52/52) |
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 |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Ano6 |
A |
G |
15: 95,847,417 (GRCm39) |
K554R |
probably damaging |
Het |
Arhgef10 |
A |
T |
8: 15,025,053 (GRCm39) |
I703F |
probably damaging |
Het |
Bbs1 |
T |
C |
19: 4,953,924 (GRCm39) |
S80G |
probably benign |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Camk1 |
C |
A |
6: 113,311,345 (GRCm39) |
R352L |
probably benign |
Het |
Cand1 |
G |
A |
10: 119,047,897 (GRCm39) |
P531L |
possibly damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Col24a1 |
C |
A |
3: 145,214,429 (GRCm39) |
P1384Q |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,357,606 (GRCm39) |
T1689K |
probably benign |
Het |
Cyp26a1 |
T |
A |
19: 37,689,660 (GRCm39) |
L452H |
probably damaging |
Het |
Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
Dennd6a |
G |
T |
14: 26,329,774 (GRCm39) |
R115L |
possibly damaging |
Het |
Eml2 |
T |
A |
7: 18,934,432 (GRCm39) |
V377E |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,334,629 (GRCm39) |
E855G |
probably benign |
Het |
Fam149a |
A |
T |
8: 45,834,478 (GRCm39) |
I107K |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,968,896 (GRCm39) |
Y59* |
probably null |
Het |
Fbn2 |
T |
C |
18: 58,169,032 (GRCm39) |
E2249G |
probably damaging |
Het |
Flrt1 |
T |
C |
19: 7,073,524 (GRCm39) |
D341G |
possibly damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Gsdma2 |
A |
G |
11: 98,540,416 (GRCm39) |
T112A |
possibly damaging |
Het |
Klhl24 |
T |
C |
16: 19,926,279 (GRCm39) |
V269A |
probably damaging |
Het |
Lcorl |
A |
G |
5: 45,890,839 (GRCm39) |
S505P |
probably damaging |
Het |
Lrp4 |
G |
A |
2: 91,316,242 (GRCm39) |
V787M |
possibly damaging |
Het |
Lrrd1 |
A |
C |
5: 3,900,226 (GRCm39) |
D177A |
possibly damaging |
Het |
Mbd1 |
G |
A |
18: 74,409,114 (GRCm39) |
R399H |
probably damaging |
Het |
Naa25 |
C |
T |
5: 121,576,888 (GRCm39) |
T879M |
possibly damaging |
Het |
Naa35 |
T |
G |
13: 59,756,005 (GRCm39) |
L147R |
possibly damaging |
Het |
Ninl |
C |
A |
2: 150,787,003 (GRCm39) |
|
probably null |
Het |
Nrap |
T |
C |
19: 56,333,941 (GRCm39) |
D972G |
probably damaging |
Het |
Or9k7 |
A |
G |
10: 130,046,126 (GRCm39) |
F291S |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,592,551 (GRCm39) |
E31G |
probably damaging |
Het |
Plec |
C |
T |
15: 76,078,603 (GRCm39) |
E41K |
probably damaging |
Het |
Plxnb1 |
A |
T |
9: 108,937,988 (GRCm39) |
K1245* |
probably null |
Het |
Ppfia1 |
T |
C |
7: 144,032,790 (GRCm39) |
T1263A |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,150,283 (GRCm39) |
V152I |
probably damaging |
Het |
Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
Prss3l |
T |
C |
6: 41,422,321 (GRCm39) |
Y28C |
probably damaging |
Het |
Prune2 |
T |
G |
19: 16,981,097 (GRCm39) |
F85V |
probably damaging |
Het |
Rrp1b |
T |
G |
17: 32,274,278 (GRCm39) |
|
probably benign |
Het |
Sec62 |
A |
G |
3: 30,864,609 (GRCm39) |
T158A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,412,236 (GRCm39) |
T526I |
probably benign |
Het |
Shank1 |
G |
T |
7: 44,003,110 (GRCm39) |
A1610S |
probably benign |
Het |
Slc24a4 |
T |
C |
12: 102,185,259 (GRCm39) |
V123A |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,509,013 (GRCm39) |
V714A |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,945,257 (GRCm39) |
T655A |
probably damaging |
Het |
Tns2 |
G |
T |
15: 102,011,551 (GRCm39) |
L10F |
probably damaging |
Het |
Trmt10c |
A |
G |
16: 55,854,489 (GRCm39) |
V382A |
probably benign |
Het |
Unc45a |
G |
C |
7: 79,986,746 (GRCm39) |
T149R |
probably damaging |
Het |
Zhx3 |
T |
G |
2: 160,623,640 (GRCm39) |
I176L |
probably damaging |
Het |
Zscan12 |
T |
A |
13: 21,552,966 (GRCm39) |
C263* |
probably null |
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 |
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 |
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'- ATTCGGATTCGCACAAGGTTAC -3'
(R):5'- CTGTGCACAGATCATCAACTCC -3'
Sequencing Primer
(F):5'- TCGGATTCGCACAAGGTTACAAAATG -3'
(R):5'- TCAACTCCACAGCTCTGGG -3'
|
Posted On |
2018-07-24 |