Incidental Mutation 'IGL00501:Lypla1'
| ID |
7540 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lypla1
|
| Ensembl Gene |
ENSMUSG00000025903 |
| Gene Name |
lysophospholipase 1 |
| Synonyms |
Pla1a, Gm39587 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
4878046-4916958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4898810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 35
(H35Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027036]
[ENSMUST00000115529]
[ENSMUST00000119612]
[ENSMUST00000131119]
[ENSMUST00000134384]
[ENSMUST00000137887]
[ENSMUST00000150971]
[ENSMUST00000155020]
|
| AlphaFold |
P97823 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027036
AA Change: H35Q
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000027036
Gene: ENSMUSG00000025903
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_2
|
8 |
226 |
2.5e-92 |
PFAM |
|
Pfam:Abhydrolase_5
|
23 |
209 |
4.3e-14 |
PFAM |
|
Pfam:Abhydrolase_3
|
82 |
170 |
2.6e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115529
AA Change: H35Q
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111191
Gene: ENSMUSG00000025903
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_2
|
8 |
125 |
1.5e-49 |
PFAM |
|
Pfam:Abhydrolase_2
|
122 |
192 |
2.2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119612
AA Change: H35Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137647
Gene: ENSMUSG00000025903
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_2
|
8 |
92 |
1.1e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131119
|
| SMART Domains |
Protein: ENSMUSP00000118453
Gene: ENSMUSG00000025903
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_2
|
1 |
142 |
8.1e-56 |
PFAM |
|
Pfam:Abhydrolase_5
|
10 |
141 |
7.8e-11 |
PFAM |
|
Pfam:Abhydrolase_6
|
11 |
139 |
9.2e-8 |
PFAM |
|
Pfam:Abhydrolase_3
|
20 |
139 |
4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134384
AA Change: H35Q
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137104
Gene: ENSMUSG00000025903
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_2
|
8 |
224 |
5.6e-85 |
PFAM |
|
Pfam:Abhydrolase_5
|
23 |
209 |
4e-14 |
PFAM |
|
Pfam:Abhydrolase_6
|
24 |
160 |
2.5e-10 |
PFAM |
|
Pfam:Abhydrolase_3
|
85 |
195 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137887
AA Change: H35Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119456
Gene: ENSMUSG00000025903
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_2
|
8 |
142 |
5.6e-48 |
PFAM |
|
Pfam:Abhydrolase_5
|
23 |
141 |
9.3e-10 |
PFAM |
|
Pfam:Abhydrolase_6
|
24 |
141 |
7.2e-12 |
PFAM |
|
Pfam:Abhydrolase_3
|
62 |
140 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150971
AA Change: H35Q
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000137248
Gene: ENSMUSG00000025903
AA Change: H35Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_2
|
8 |
215 |
1.3e-84 |
PFAM |
|
Pfam:Abhydrolase_5
|
23 |
209 |
4.4e-14 |
PFAM |
|
Pfam:Abhydrolase_6
|
24 |
160 |
3.6e-10 |
PFAM |
|
Pfam:Abhydrolase_3
|
85 |
195 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155020
AA Change: W25R
|
| SMART Domains |
Protein: ENSMUSP00000136108
Gene: ENSMUSG00000104217
AA Change: W25R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
|
| 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 member of the alpha/beta hydrolase superfamily. The encoded protein functions as a homodimer, exhibiting both depalmitoylating as well as lysophospholipase activity, and may be involved in Ras localization and signaling. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 4, 6, and 7. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,493,895 (GRCm39) |
I409V |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,335,192 (GRCm39) |
N26S |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,760,806 (GRCm39) |
A834T |
possibly damaging |
Het |
| Agpat5 |
T |
C |
8: 18,926,148 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
C |
8: 71,931,793 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
A |
10: 127,950,494 (GRCm39) |
M476K |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,869 (GRCm39) |
A311V |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,988,345 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
A |
T |
5: 137,910,195 (GRCm39) |
I113N |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,094 (GRCm39) |
T146A |
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,826,288 (GRCm39) |
M434L |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,568,477 (GRCm39) |
A663V |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,230 (GRCm39) |
T385A |
possibly damaging |
Het |
| Gm42878 |
A |
C |
5: 121,671,406 (GRCm39) |
I209R |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,457,835 (GRCm39) |
V245E |
probably damaging |
Het |
| H2az1 |
T |
C |
3: 137,571,357 (GRCm39) |
V53A |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,190,843 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,440 (GRCm39) |
|
probably benign |
Het |
| Klhdc8b |
C |
T |
9: 108,326,105 (GRCm39) |
R263H |
probably benign |
Het |
| Lcn8 |
T |
C |
2: 25,545,119 (GRCm39) |
|
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,646,657 (GRCm39) |
|
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,766,919 (GRCm39) |
F458S |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,494,638 (GRCm39) |
T273I |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,185,356 (GRCm39) |
F959L |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,341,163 (GRCm39) |
D704V |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,134,610 (GRCm39) |
E1274K |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,378,858 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,359,558 (GRCm39) |
N40K |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,110,806 (GRCm39) |
T126A |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,814,046 (GRCm39) |
V1830A |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,763 (GRCm39) |
I433T |
probably damaging |
Het |
| Trim10 |
G |
A |
17: 37,187,939 (GRCm39) |
R385K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,965,606 (GRCm39) |
I339V |
possibly damaging |
Het |
|
| Other mutations in Lypla1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01571:Lypla1
|
APN |
1 |
4,915,211 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01592:Lypla1
|
APN |
1 |
4,898,874 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01865:Lypla1
|
APN |
1 |
4,907,259 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02442:Lypla1
|
APN |
1 |
4,902,610 (GRCm39) |
splice site |
probably benign |
|
|
IGL03005:Lypla1
|
APN |
1 |
4,902,613 (GRCm39) |
splice site |
probably benign |
|
|
R0095:Lypla1
|
UTSW |
1 |
4,900,550 (GRCm39) |
splice site |
probably benign |
|
|
R2278:Lypla1
|
UTSW |
1 |
4,911,321 (GRCm39) |
splice site |
probably null |
|
|
R3766:Lypla1
|
UTSW |
1 |
4,911,201 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5805:Lypla1
|
UTSW |
1 |
4,900,517 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6014:Lypla1
|
UTSW |
1 |
4,878,594 (GRCm39) |
splice site |
probably null |
|
|
R6027:Lypla1
|
UTSW |
1 |
4,907,299 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6842:Lypla1
|
UTSW |
1 |
4,902,563 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7285:Lypla1
|
UTSW |
1 |
4,911,321 (GRCm39) |
missense |
probably benign |
|
|
R7564:Lypla1
|
UTSW |
1 |
4,878,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9105:Lypla1
|
UTSW |
1 |
4,911,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Lypla1
|
UTSW |
1 |
4,898,813 (GRCm39) |
start gained |
probably benign |
|
|
R9582:Lypla1
|
UTSW |
1 |
4,911,248 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Posted On |
2012-04-20 |
Incidental Mutation