Incidental Mutation 'IGL00391:Plaat5'
| ID |
3262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plaat5
|
| Ensembl Gene |
ENSMUSG00000024973 |
| Gene Name |
phospholipase A and acyltransferase 5 |
| Synonyms |
Hrasls5, iNAT, 4921526K24Rik, 1700086E08Rik, 1700055A14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
7589906-7617007 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 7596631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025929]
[ENSMUST00000148558]
|
| AlphaFold |
Q9CPX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025929
|
| SMART Domains |
Protein: ENSMUSP00000025929
Gene: ENSMUSG00000024973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRAT
|
139 |
261 |
1.6e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148558
|
| SMART Domains |
Protein: ENSMUSP00000118096
Gene: ENSMUSG00000024973
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRAT
|
144 |
261 |
1.9e-37 |
PFAM |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
| Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
| Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
| Fam47e |
A |
C |
5: 92,727,522 (GRCm39) |
E143D |
probably damaging |
Het |
| Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
| Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
| Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
| Other mutations in Plaat5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Plaat5
|
APN |
19 |
7,591,924 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0330:Plaat5
|
UTSW |
19 |
7,614,663 (GRCm39) |
splice site |
probably null |
|
|
R1144:Plaat5
|
UTSW |
19 |
7,590,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1294:Plaat5
|
UTSW |
19 |
7,592,015 (GRCm39) |
splice site |
probably benign |
|
|
R1453:Plaat5
|
UTSW |
19 |
7,616,999 (GRCm39) |
unclassified |
probably benign |
|
|
R2069:Plaat5
|
UTSW |
19 |
7,590,003 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2258:Plaat5
|
UTSW |
19 |
7,590,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Plaat5
|
UTSW |
19 |
7,590,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Plaat5
|
UTSW |
19 |
7,592,036 (GRCm39) |
intron |
probably benign |
|
|
R6151:Plaat5
|
UTSW |
19 |
7,596,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6274:Plaat5
|
UTSW |
19 |
7,614,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Plaat5
|
UTSW |
19 |
7,590,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6823:Plaat5
|
UTSW |
19 |
7,616,861 (GRCm39) |
unclassified |
probably benign |
|
|
R6912:Plaat5
|
UTSW |
19 |
7,616,830 (GRCm39) |
unclassified |
probably benign |
|
|
R7100:Plaat5
|
UTSW |
19 |
7,616,923 (GRCm39) |
missense |
unknown |
|
|
R7241:Plaat5
|
UTSW |
19 |
7,591,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9009:Plaat5
|
UTSW |
19 |
7,614,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9287:Plaat5
|
UTSW |
19 |
7,596,691 (GRCm39) |
nonsense |
probably null |
|
|
R9464:Plaat5
|
UTSW |
19 |
7,591,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-04-20 |
Incidental Mutation