Incidental Mutation 'IGL00557:Agpat3'
ID |
28283 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Agpat3
|
Ensembl Gene |
ENSMUSG00000001211 |
Gene Name |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
Synonyms |
D10Jhu12e, LPAAT3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
IGL00557
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
78105012-78188323 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to T
at 78109516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001240]
[ENSMUST00000105387]
[ENSMUST00000105388]
[ENSMUST00000105389]
[ENSMUST00000105390]
[ENSMUST00000166360]
|
AlphaFold |
Q9D517 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001240
|
SMART Domains |
Protein: ENSMUSP00000001240 Gene: ENSMUSG00000001211
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
PlsC
|
90 |
212 |
3.14e-21 |
SMART |
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105387
|
SMART Domains |
Protein: ENSMUSP00000101026 Gene: ENSMUSG00000001211
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
PlsC
|
90 |
212 |
3.14e-21 |
SMART |
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105388
|
SMART Domains |
Protein: ENSMUSP00000101027 Gene: ENSMUSG00000001211
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
PlsC
|
90 |
212 |
3.14e-21 |
SMART |
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105389
|
SMART Domains |
Protein: ENSMUSP00000101028 Gene: ENSMUSG00000001211
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
PlsC
|
90 |
212 |
3.14e-21 |
SMART |
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105390
|
SMART Domains |
Protein: ENSMUSP00000101029 Gene: ENSMUSG00000001211
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
PlsC
|
90 |
212 |
3.14e-21 |
SMART |
transmembrane domain
|
308 |
330 |
N/A |
INTRINSIC |
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166360
|
SMART Domains |
Protein: ENSMUSP00000132954 Gene: ENSMUSG00000001211
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
PlsC
|
90 |
212 |
3.14e-21 |
SMART |
Pfam:Acyltransf_C
|
241 |
314 |
2.1e-29 |
PFAM |
transmembrane domain
|
335 |
357 |
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.] The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, teratozoospermia. [provided by MGI curators]
|
Allele List at MGI |
All alleles(14) : Targeted(2) Gene trapped(12)
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
T |
C |
7: 16,298,340 (GRCm39) |
T242A |
probably benign |
Het |
Asb15 |
C |
A |
6: 24,558,649 (GRCm39) |
R55S |
probably benign |
Het |
Brca2 |
C |
T |
5: 150,484,003 (GRCm39) |
R2941W |
probably benign |
Het |
Chrng |
T |
C |
1: 87,134,469 (GRCm39) |
V135A |
probably damaging |
Het |
Corin |
G |
T |
5: 72,462,231 (GRCm39) |
H859Q |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,963,434 (GRCm39) |
E208G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
Ell2 |
T |
A |
13: 75,904,409 (GRCm39) |
I166N |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,821,657 (GRCm39) |
R5797G |
possibly damaging |
Het |
Galntl6 |
T |
C |
8: 59,364,451 (GRCm39) |
I20V |
possibly damaging |
Het |
Glra2 |
A |
G |
X: 164,072,633 (GRCm39) |
F78L |
possibly damaging |
Het |
Gm12258 |
A |
G |
11: 58,746,896 (GRCm39) |
D51G |
probably benign |
Het |
Gsta2 |
T |
A |
9: 78,238,525 (GRCm39) |
K185* |
probably null |
Het |
Hmgcr |
C |
T |
13: 96,795,786 (GRCm39) |
D294N |
probably benign |
Het |
Iglv2 |
A |
G |
16: 19,079,547 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
A |
15: 25,776,466 (GRCm39) |
L63H |
probably damaging |
Het |
P2ry10b |
T |
C |
X: 106,215,243 (GRCm39) |
V201A |
probably benign |
Het |
Psmb2 |
A |
G |
4: 126,571,642 (GRCm39) |
|
probably null |
Het |
Samd4 |
T |
A |
14: 47,290,355 (GRCm39) |
L154H |
probably damaging |
Het |
Sult2a4 |
A |
T |
7: 13,718,870 (GRCm39) |
D124E |
probably damaging |
Het |
Trav9-1 |
A |
T |
14: 53,725,815 (GRCm39) |
Y43F |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,483,681 (GRCm39) |
N506S |
probably damaging |
Het |
Ube3c |
T |
C |
5: 29,824,227 (GRCm39) |
S474P |
probably damaging |
Het |
Wdr87-ps |
A |
G |
7: 29,235,227 (GRCm39) |
|
noncoding transcript |
Het |
Zfp942 |
A |
T |
17: 22,148,042 (GRCm39) |
C196S |
probably benign |
Het |
|
Other mutations in Agpat3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02621:Agpat3
|
APN |
10 |
78,120,900 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02725:Agpat3
|
APN |
10 |
78,113,889 (GRCm39) |
missense |
probably benign |
0.02 |
P0008:Agpat3
|
UTSW |
10 |
78,123,710 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4445001:Agpat3
|
UTSW |
10 |
78,109,927 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0041:Agpat3
|
UTSW |
10 |
78,123,881 (GRCm39) |
unclassified |
probably benign |
|
R0126:Agpat3
|
UTSW |
10 |
78,113,890 (GRCm39) |
missense |
probably null |
0.59 |
R0226:Agpat3
|
UTSW |
10 |
78,113,863 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1520:Agpat3
|
UTSW |
10 |
78,123,857 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R2118:Agpat3
|
UTSW |
10 |
78,113,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Agpat3
|
UTSW |
10 |
78,120,069 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5599:Agpat3
|
UTSW |
10 |
78,110,103 (GRCm39) |
missense |
probably benign |
0.39 |
R6280:Agpat3
|
UTSW |
10 |
78,120,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R7528:Agpat3
|
UTSW |
10 |
78,123,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R7895:Agpat3
|
UTSW |
10 |
78,119,034 (GRCm39) |
missense |
probably benign |
0.34 |
R8351:Agpat3
|
UTSW |
10 |
78,110,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R8425:Agpat3
|
UTSW |
10 |
78,118,211 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8949:Agpat3
|
UTSW |
10 |
78,118,989 (GRCm39) |
missense |
probably benign |
0.00 |
R9136:Agpat3
|
UTSW |
10 |
78,120,893 (GRCm39) |
missense |
probably damaging |
1.00 |
X0003:Agpat3
|
UTSW |
10 |
78,110,007 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-04-17 |