Incidental Mutation 'IGL00571:Liph'
| ID |
13587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Liph
|
| Ensembl Gene |
ENSMUSG00000044626 |
| Gene Name |
lipase, member H |
| Synonyms |
C130037N08Rik, Lpdlr, PLA1B, mPA-PLA1, LPDLR, D16Wsu119e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00571
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
21772567-21814408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21786890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 242
(F242S)
|
| 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: F244S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: F244S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipase
|
11 |
326 |
6.8e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074230
AA Change: F214S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: F214S
| 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: F242S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232120
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232673
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
G |
11: 76,359,566 (GRCm39) |
S180R |
probably benign |
Het |
| Atrn |
G |
T |
2: 130,836,968 (GRCm39) |
R1144L |
probably damaging |
Het |
| Dsc1 |
G |
T |
18: 20,243,195 (GRCm39) |
S86Y |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,513,185 (GRCm39) |
N120K |
probably benign |
Het |
| Fas |
A |
T |
19: 34,296,018 (GRCm39) |
T154S |
probably damaging |
Het |
| Fbxo41 |
T |
C |
6: 85,455,084 (GRCm39) |
|
probably null |
Het |
| Fzd8 |
A |
T |
18: 9,213,068 (GRCm39) |
Y50F |
unknown |
Het |
| Hmcn1 |
C |
T |
1: 150,514,750 (GRCm39) |
V3541I |
probably benign |
Het |
| Il6st |
G |
A |
13: 112,624,394 (GRCm39) |
V215M |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 64,983,866 (GRCm39) |
V581M |
probably damaging |
Het |
| Nacc2 |
T |
C |
2: 25,979,702 (GRCm39) |
T245A |
probably benign |
Het |
| Nlrp1b |
C |
T |
11: 71,054,799 (GRCm39) |
D889N |
probably null |
Het |
| Parp4 |
T |
A |
14: 56,884,810 (GRCm39) |
S1296R |
unknown |
Het |
| Prr23a4 |
A |
C |
9: 98,785,739 (GRCm39) |
T135P |
possibly damaging |
Het |
| Sec24a |
G |
A |
11: 51,627,331 (GRCm39) |
Q194* |
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,015,676 (GRCm39) |
N372D |
probably benign |
Het |
| Sprr2a3 |
T |
A |
3: 92,196,074 (GRCm39) |
Y60* |
probably null |
Het |
| Tdrd6 |
T |
A |
17: 43,939,051 (GRCm39) |
I666F |
probably damaging |
Het |
| Tlr1 |
T |
C |
5: 65,083,777 (GRCm39) |
I267V |
probably benign |
Het |
| Tmtc2 |
A |
G |
10: 105,157,307 (GRCm39) |
I633T |
possibly damaging |
Het |
| Ttc33 |
A |
G |
15: 5,246,809 (GRCm39) |
D205G |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,125,170 (GRCm39) |
K26E |
probably damaging |
Het |
| Zfp639 |
A |
G |
3: 32,574,068 (GRCm39) |
D231G |
probably damaging |
Het |
|
| Other mutations in Liph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation