Incidental Mutation 'R6188:Liph'
| ID |
502339 |
| 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 |
044328-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6188 (G1)
|
| Quality Score |
225.009 |
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (61/62) |
| 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 |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,850 (GRCm39) |
I88F |
possibly damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,943,471 (GRCm39) |
S28P |
probably benign |
Het |
| a |
A |
T |
2: 154,889,602 (GRCm39) |
N56I |
probably damaging |
Het |
| Apoe |
C |
A |
7: 19,432,305 (GRCm39) |
|
probably benign |
Het |
| Aspm |
C |
A |
1: 139,406,977 (GRCm39) |
R1955S |
possibly damaging |
Het |
| Boc |
G |
A |
16: 44,319,911 (GRCm39) |
L358F |
possibly damaging |
Het |
| Cadm2 |
A |
T |
16: 66,612,195 (GRCm39) |
|
probably null |
Het |
| Ccdc183 |
T |
C |
2: 25,499,764 (GRCm39) |
E384G |
probably benign |
Het |
| Ccl12 |
A |
G |
11: 81,993,943 (GRCm39) |
T67A |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,857,529 (GRCm39) |
D312G |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,229,952 (GRCm39) |
V1712A |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,784 (GRCm39) |
S435P |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,699,361 (GRCm39) |
N997Y |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,453,396 (GRCm39) |
I86F |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,150,275 (GRCm39) |
Q168R |
probably benign |
Het |
| Epb41l4a |
T |
A |
18: 33,965,718 (GRCm39) |
I370L |
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,039,208 (GRCm39) |
D950E |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,832,479 (GRCm39) |
V405A |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,209,752 (GRCm39) |
D71G |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,696 (GRCm39) |
Y205F |
possibly damaging |
Het |
| Fcnb |
C |
A |
2: 27,969,202 (GRCm39) |
R165M |
possibly damaging |
Het |
| Fndc3a |
C |
T |
14: 72,827,401 (GRCm39) |
V50I |
probably damaging |
Het |
| Gm13276 |
C |
T |
4: 88,704,096 (GRCm39) |
Q51* |
probably null |
Het |
| Grik1 |
T |
C |
16: 87,852,959 (GRCm39) |
T75A |
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,740,514 (GRCm39) |
L1015P |
probably damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,541,967 (GRCm39) |
F339L |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
| Kars1 |
C |
T |
8: 112,735,113 (GRCm39) |
|
probably null |
Het |
| Kpna7 |
G |
T |
5: 144,929,654 (GRCm39) |
N390K |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,993,246 (GRCm39) |
S410T |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,310,157 (GRCm39) |
E365G |
probably damaging |
Het |
| Lmbrd1 |
C |
A |
1: 24,750,626 (GRCm39) |
N166K |
probably benign |
Het |
| Lypd9 |
T |
C |
11: 58,337,182 (GRCm39) |
E97G |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,139,059 (GRCm39) |
S44P |
probably damaging |
Het |
| Or2m12 |
A |
G |
16: 19,105,307 (GRCm39) |
M62T |
probably damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,538 (GRCm39) |
C177* |
probably null |
Het |
| Or5a3 |
A |
G |
19: 12,399,974 (GRCm39) |
I100M |
probably benign |
Het |
| Pcdhga6 |
T |
C |
18: 37,841,324 (GRCm39) |
V348A |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,991,198 (GRCm39) |
Q295* |
probably null |
Het |
| Phyh |
A |
G |
2: 4,932,301 (GRCm39) |
E129G |
probably damaging |
Het |
| Polb |
A |
G |
8: 23,137,463 (GRCm39) |
S96P |
probably damaging |
Het |
| Ppp1r9a |
A |
T |
6: 5,158,113 (GRCm39) |
K1174* |
probably null |
Het |
| Ppp1r9b |
C |
T |
11: 94,882,662 (GRCm39) |
R97W |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,418,342 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,447,967 (GRCm39) |
|
probably null |
Het |
| Rgs20 |
GGAGAGAG |
GGAGAG |
1: 5,091,106 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
C |
4: 121,027,963 (GRCm39) |
H111R |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,969,831 (GRCm39) |
|
probably null |
Het |
| Ror2 |
T |
A |
13: 53,265,347 (GRCm39) |
T570S |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,313,061 (GRCm39) |
I542R |
possibly damaging |
Het |
| Serpinb3d |
A |
G |
1: 107,006,237 (GRCm39) |
F284L |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,590,397 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
A |
1: 26,724,784 (GRCm39) |
Y132F |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,121,091 (GRCm39) |
I3973T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,186,087 (GRCm39) |
S1117G |
probably benign |
Het |
| Trav15-1-dv6-1 |
C |
T |
14: 53,797,414 (GRCm39) |
A21V |
probably damaging |
Het |
| Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,084 (GRCm39) |
L204H |
probably damaging |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,017 (GRCm39) |
S97T |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,286 (GRCm39) |
F293S |
probably damaging |
Het |
| Zfp983 |
A |
G |
17: 21,877,935 (GRCm39) |
Y46C |
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 |
|
R5810:Liph
|
UTSW |
16 |
21,786,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCTCCTCTATCCAAACCGG -3'
(R):5'- ATCACTGAACTAGCTCCAGGC -3'
Sequencing Primer
(F):5'- TGTTGGCCGGAAACCGTG -3'
(R):5'- CTCTGGGGAGGCGCTGTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation