Incidental Mutation 'R4454:Liph'
ID |
371162 |
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 |
041714-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4454 (G1)
|
Quality Score |
182 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
21772567-21814408 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21803018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 17
(D17G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060673]
[ENSMUST00000074230]
[ENSMUST00000231682]
[ENSMUST00000231766]
|
AlphaFold |
Q8CIV3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060673
AA Change: D17G
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000062310 Gene: ENSMUSG00000044626 AA Change: D17G
Domain | Start | End | E-Value | Type |
Pfam:Lipase
|
11 |
326 |
6.8e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074230
AA Change: D17G
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000073853 Gene: ENSMUSG00000044626 AA Change: D17G
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: D17G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231766
AA Change: D17G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Meta Mutation Damage Score |
0.5493 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap4e1 |
T |
A |
2: 126,889,061 (GRCm39) |
F509I |
probably damaging |
Het |
Asmt |
A |
T |
X: 169,106,456 (GRCm39) |
M19L |
probably benign |
Het |
Atf6 |
C |
T |
1: 170,621,608 (GRCm39) |
R471Q |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Baiap3 |
T |
A |
17: 25,468,510 (GRCm39) |
D250V |
probably damaging |
Het |
C2cd4d |
T |
A |
3: 94,271,054 (GRCm39) |
F107I |
probably damaging |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Cldn6 |
T |
C |
17: 23,900,060 (GRCm39) |
|
probably null |
Het |
Cpa5 |
A |
G |
6: 30,626,323 (GRCm39) |
N228S |
possibly damaging |
Het |
Cracdl |
T |
C |
1: 37,663,834 (GRCm39) |
E163G |
probably damaging |
Het |
Crocc |
T |
C |
4: 140,747,716 (GRCm39) |
S1478G |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 15,995,011 (GRCm39) |
C2675S |
probably damaging |
Het |
Cthrc1 |
C |
A |
15: 38,940,408 (GRCm39) |
Q4K |
probably benign |
Het |
Ddo |
A |
T |
10: 40,523,543 (GRCm39) |
I178F |
probably damaging |
Het |
Dmxl1 |
A |
G |
18: 50,026,399 (GRCm39) |
T1836A |
probably benign |
Het |
Dnah9 |
T |
G |
11: 66,038,215 (GRCm39) |
Q107P |
probably damaging |
Het |
Dusp26 |
A |
G |
8: 31,584,172 (GRCm39) |
N93S |
probably damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Epha5 |
T |
C |
5: 84,304,303 (GRCm39) |
I501V |
probably damaging |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
Fgd5 |
C |
T |
6: 91,966,167 (GRCm39) |
S642F |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
Gm12034 |
T |
A |
11: 20,396,476 (GRCm39) |
|
noncoding transcript |
Het |
Mbd3 |
A |
T |
10: 80,229,817 (GRCm39) |
L164H |
probably damaging |
Het |
Med4 |
A |
G |
14: 73,755,502 (GRCm39) |
|
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nav2 |
A |
T |
7: 49,198,292 (GRCm39) |
|
probably null |
Het |
Or4k1 |
T |
C |
14: 50,377,953 (GRCm39) |
I48V |
probably benign |
Het |
Or8b1b |
C |
A |
9: 38,375,938 (GRCm39) |
F200L |
probably benign |
Het |
Pcdha11 |
G |
A |
18: 37,140,426 (GRCm39) |
G685D |
probably benign |
Het |
Pgc |
A |
G |
17: 48,043,335 (GRCm39) |
I228V |
probably benign |
Het |
Pramel25 |
A |
G |
4: 143,519,394 (GRCm39) |
S52G |
probably benign |
Het |
Rad51 |
C |
T |
2: 118,962,049 (GRCm39) |
H199Y |
probably damaging |
Het |
Robo2 |
A |
T |
16: 74,149,407 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
T |
18: 31,844,413 (GRCm39) |
T861I |
probably damaging |
Het |
Sh3tc2 |
A |
T |
18: 62,140,844 (GRCm39) |
D1061V |
probably damaging |
Het |
Shoc1 |
T |
C |
4: 59,092,383 (GRCm39) |
D266G |
possibly damaging |
Het |
Snapc3 |
A |
G |
4: 83,336,996 (GRCm39) |
E119G |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,464,159 (GRCm39) |
G3862D |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,048,699 (GRCm39) |
T318M |
possibly damaging |
Het |
Thrb |
T |
A |
14: 18,011,187 (GRCm38) |
W188R |
probably damaging |
Het |
Thsd1 |
T |
C |
8: 22,733,594 (GRCm39) |
Y214H |
probably damaging |
Het |
Tnfrsf13b |
T |
C |
11: 61,032,264 (GRCm39) |
V98A |
probably benign |
Het |
Topbp1 |
T |
C |
9: 103,222,070 (GRCm39) |
Y1314H |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,616,150 (GRCm39) |
V8271L |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
Utrn |
G |
T |
10: 12,603,584 (GRCm39) |
Q599K |
possibly damaging |
Het |
Zfp995 |
G |
A |
17: 22,098,932 (GRCm39) |
T434I |
probably benign |
Het |
Zfy1 |
G |
T |
Y: 725,518 (GRCm39) |
T749K |
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 |
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 |
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'- GATCAAACTCTGTACCAGCTCC -3'
(R):5'- TCACTGAACTAGCTCCAGGC -3'
Sequencing Primer
(F):5'- TGTTGGCCGGAAACCGTG -3'
(R):5'- CTCTGGGGAGGCGCTGTG -3'
|
Posted On |
2016-02-29 |