Incidental Mutation 'IGL00757:Plaat5'
ID |
11336 |
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 # |
IGL00757
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
7589906-7617007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 7591924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 113
(E113D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025929]
[ENSMUST00000148558]
|
AlphaFold |
Q9CPX5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025929
AA Change: E113D
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000025929 Gene: ENSMUSG00000024973 AA Change: E113D
Domain | Start | End | E-Value | Type |
Pfam:LRAT
|
139 |
261 |
1.6e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131326
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148558
AA Change: E113D
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118096 Gene: ENSMUSG00000024973 AA Change: E113D
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 |
Acsbg1 |
A |
C |
9: 54,530,003 (GRCm39) |
I231R |
possibly damaging |
Het |
Ahctf1 |
G |
A |
1: 179,596,696 (GRCm39) |
P94S |
probably damaging |
Het |
Cldn34b3 |
T |
C |
X: 75,310,978 (GRCm39) |
I182T |
possibly damaging |
Het |
Cps1 |
T |
A |
1: 67,191,539 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
G |
T |
9: 3,460,054 (GRCm39) |
A781S |
probably damaging |
Het |
Cyp4v3 |
T |
C |
8: 45,773,652 (GRCm39) |
I172M |
probably damaging |
Het |
Fcgbpl1 |
T |
G |
7: 27,853,870 (GRCm39) |
C1611W |
probably damaging |
Het |
Gmnc |
T |
G |
16: 26,782,689 (GRCm39) |
D22A |
probably damaging |
Het |
Gpr89 |
T |
A |
3: 96,778,850 (GRCm39) |
T408S |
probably benign |
Het |
Grk2 |
A |
G |
19: 4,339,339 (GRCm39) |
|
probably null |
Het |
Kctd3 |
A |
G |
1: 188,704,393 (GRCm39) |
S793P |
probably damaging |
Het |
Lhx1 |
A |
G |
11: 84,410,478 (GRCm39) |
F373S |
probably damaging |
Het |
Mgl2 |
A |
T |
11: 70,025,976 (GRCm39) |
I71F |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,234,302 (GRCm39) |
I91N |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,939,552 (GRCm39) |
D2110E |
probably damaging |
Het |
Pde9a |
A |
G |
17: 31,662,146 (GRCm39) |
E90G |
probably benign |
Het |
Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
R3hdm1 |
T |
G |
1: 128,164,176 (GRCm39) |
I1030R |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,633,490 (GRCm39) |
|
probably null |
Het |
Serpina1f |
A |
G |
12: 103,659,721 (GRCm39) |
I187T |
probably damaging |
Het |
Slc22a16 |
C |
T |
10: 40,457,323 (GRCm39) |
T188M |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,901,440 (GRCm39) |
H1500R |
probably benign |
Het |
Sptlc2 |
C |
T |
12: 87,415,842 (GRCm39) |
E62K |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,405,581 (GRCm39) |
S326T |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,153,235 (GRCm39) |
Y39H |
probably 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 |
|
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 |
2012-12-06 |