Incidental Mutation 'R0041:Agpat3'
| ID |
98717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agpat3
|
| Ensembl Gene |
ENSMUSG00000001211 |
| Gene Name |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
| Synonyms |
D10Jhu12e, LPAAT3 |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
107 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78105012-78188323 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 78123881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001240]
[ENSMUST00000105387]
[ENSMUST00000105388]
[ENSMUST00000105389]
[ENSMUST00000105390]
[ENSMUST00000138035]
[ENSMUST00000139282]
[ENSMUST00000166360]
[ENSMUST00000219932]
[ENSMUST00000146899]
[ENSMUST00000150828]
|
| 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 |
probably benign
Transcript: ENSMUST00000138035
|
| SMART Domains |
Protein: ENSMUSP00000121052
Gene: ENSMUSG00000001211
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139282
|
| SMART Domains |
Protein: ENSMUSP00000119713
Gene: ENSMUSG00000001211
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:Acyltransferase
|
72 |
144 |
3.1e-7 |
PFAM |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146899
|
| SMART Domains |
Protein: ENSMUSP00000114657
Gene: ENSMUSG00000001211
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219907
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150828
|
| SMART Domains |
Protein: ENSMUSP00000114885
Gene: ENSMUSG00000001211
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Blast:PlsC
|
90 |
129 |
5e-20 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (58/60) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
| Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
| Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
| Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
| Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
| Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
| Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
| Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,130,481 (GRCm39) |
L293P |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
| Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
| Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
| Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
|
| Other mutations in Agpat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00557:Agpat3
|
APN |
10 |
78,109,516 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-09 |
Incidental Mutation