Incidental Mutation 'R1294:Plaat5'
| ID |
158034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plaat5
|
| Ensembl Gene |
ENSMUSG00000024973 |
| Gene Name |
phospholipase A and acyltransferase 5 |
| Synonyms |
Hrasls5, iNAT, 4921526K24Rik, 1700086E08Rik, 1700055A14Rik |
| MMRRC Submission |
039360-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
7589906-7617007 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 7592015 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C2cd2 |
A |
G |
16: 97,723,469 (GRCm39) |
L16P |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cnn2 |
A |
G |
10: 79,829,359 (GRCm39) |
D163G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,052 (GRCm39) |
D233G |
probably damaging |
Het |
| Csta2 |
T |
A |
16: 36,077,618 (GRCm39) |
D58E |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,264 (GRCm39) |
Q248R |
probably benign |
Het |
| Elavl2 |
G |
A |
4: 91,199,826 (GRCm39) |
A19V |
probably benign |
Het |
| Fxr1 |
T |
A |
3: 34,101,201 (GRCm39) |
M169K |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,128 (GRCm39) |
|
probably null |
Het |
| Gm5334 |
T |
C |
7: 68,268,862 (GRCm39) |
S94P |
probably damaging |
Het |
| Klk1b3 |
C |
A |
7: 43,849,720 (GRCm39) |
S35Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,655,863 (GRCm39) |
V156A |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,599,155 (GRCm39) |
I327T |
probably damaging |
Het |
| Polr1a |
A |
T |
6: 71,889,886 (GRCm39) |
N35I |
probably damaging |
Het |
| Rab3c |
T |
C |
13: 110,397,099 (GRCm39) |
T56A |
possibly damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,120 (GRCm39) |
K141* |
probably null |
Het |
| Rxrg |
G |
T |
1: 167,441,470 (GRCm39) |
A83S |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,211 (GRCm39) |
S102P |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,575 (GRCm39) |
N797D |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,040 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,843,295 (GRCm39) |
V619E |
unknown |
Het |
| Slc25a20 |
A |
G |
9: 108,554,838 (GRCm39) |
M128V |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,906 (GRCm39) |
I286V |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,381,027 (GRCm39) |
F479Y |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,837,208 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
A |
11: 58,533,953 (GRCm39) |
I169N |
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,464 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,737 (GRCm39) |
Y76F |
possibly damaging |
Het |
|
| Other mutations in Plaat5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Plaat5
|
APN |
19 |
7,596,631 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTTTCCAACAGCCGTGGAAC -3'
(R):5'- TCATGTCAGCTCCTTCCCAGGAAC -3'
Sequencing Primer
(F):5'- CCGTGGAACGATGTTTACAATG -3'
(R):5'- CTTCCCAGGAACCTGCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation