Incidental Mutation 'R8949:Agpat3'
| ID |
681526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Agpat3
|
| Ensembl Gene |
ENSMUSG00000001211 |
| Gene Name |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
| Synonyms |
D10Jhu12e, LPAAT3 |
| MMRRC Submission |
068787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R8949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78105012-78188323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78118989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 202
(Y202H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001240]
[ENSMUST00000105387]
[ENSMUST00000105388]
[ENSMUST00000105389]
[ENSMUST00000105390]
[ENSMUST00000138035]
[ENSMUST00000139282]
[ENSMUST00000146899]
[ENSMUST00000150828]
[ENSMUST00000166360]
[ENSMUST00000219932]
|
| AlphaFold |
Q9D517 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000001240
Gene: ENSMUSG00000001211
AA Change: Y202H
| 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
AA Change: Y202H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101026
Gene: ENSMUSG00000001211
AA Change: Y202H
| 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
AA Change: Y202H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101027
Gene: ENSMUSG00000001211
AA Change: Y202H
| 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
AA Change: Y202H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101028
Gene: ENSMUSG00000001211
AA Change: Y202H
| 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
AA Change: Y202H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101029
Gene: ENSMUSG00000001211
AA Change: Y202H
| 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: ENSMUST00000146899
|
| SMART Domains |
Protein: ENSMUSP00000114657
Gene: ENSMUSG00000001211
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166360
AA Change: Y202H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000132954
Gene: ENSMUSG00000001211
AA Change: Y202H
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
A |
5: 90,679,374 (GRCm39) |
C289* |
probably null |
Het |
| Atg4b |
T |
A |
1: 93,715,479 (GRCm39) |
*394R |
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,091,377 (GRCm39) |
H1037Q |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,941,238 (GRCm39) |
Y1504C |
probably damaging |
Het |
| Bfsp2 |
T |
C |
9: 103,327,152 (GRCm39) |
N195S |
probably benign |
Het |
| Bmpr1b |
T |
G |
3: 141,586,203 (GRCm39) |
S20R |
possibly damaging |
Het |
| Bmpr2 |
C |
T |
1: 59,906,860 (GRCm39) |
P651L |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,026,705 (GRCm39) |
D549E |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,130 (GRCm39) |
L210P |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,581,970 (GRCm39) |
R1427L |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Dhx32 |
A |
T |
7: 133,344,470 (GRCm39) |
Y46* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 66,059,226 (GRCm39) |
L23P |
possibly damaging |
Het |
| Eef2 |
T |
A |
10: 81,014,518 (GRCm39) |
V135E |
probably damaging |
Het |
| Eef2k |
A |
T |
7: 120,491,211 (GRCm39) |
I2F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,396,926 (GRCm39) |
|
probably null |
Het |
| Hr |
T |
C |
14: 70,795,328 (GRCm39) |
I320T |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,100,017 (GRCm39) |
I288V |
probably benign |
Het |
| Ighv1-31 |
T |
C |
12: 114,793,036 (GRCm39) |
I67V |
probably benign |
Het |
| Krtap6-2 |
T |
C |
16: 89,216,703 (GRCm39) |
Y88C |
unknown |
Het |
| Ksr2 |
T |
C |
5: 117,823,560 (GRCm39) |
C446R |
possibly damaging |
Het |
| Lct |
A |
T |
1: 128,221,929 (GRCm39) |
W1537R |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,425,405 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,882 (GRCm39) |
H288R |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,668,714 (GRCm39) |
V136A |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,432,221 (GRCm39) |
|
probably null |
Het |
| Ndufv3 |
A |
G |
17: 31,746,742 (GRCm39) |
K211E |
possibly damaging |
Het |
| Nkiras2 |
A |
T |
11: 100,510,158 (GRCm39) |
|
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,251,971 (GRCm39) |
E396G |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,379 (GRCm39) |
F276L |
probably damaging |
Het |
| Or52a33 |
A |
T |
7: 103,288,702 (GRCm39) |
I215K |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,072,490 (GRCm39) |
M1K |
probably null |
Het |
| Phaf1 |
T |
A |
8: 105,976,075 (GRCm39) |
I344K |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,938,699 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,894,612 (GRCm39) |
Y544C |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,161,964 (GRCm39) |
E307G |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,931,296 (GRCm39) |
Q498H |
probably benign |
Het |
| Smpdl3b |
T |
C |
4: 132,473,814 (GRCm39) |
K84E |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,123,753 (GRCm39) |
F3086L |
probably benign |
Het |
| Spcs2 |
A |
G |
7: 99,493,923 (GRCm39) |
S186P |
probably benign |
Het |
| Speer4e2 |
C |
T |
5: 15,026,212 (GRCm39) |
|
probably null |
Het |
| Steap1 |
A |
T |
5: 5,789,940 (GRCm39) |
D24E |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,054,604 (GRCm39) |
E3328G |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,054 (GRCm39) |
|
probably null |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,399 (GRCm39) |
V358A |
probably benign |
Het |
| Tecrl |
C |
T |
5: 83,461,154 (GRCm39) |
R101Q |
probably benign |
Het |
| Tmem184a |
C |
A |
5: 139,791,311 (GRCm39) |
A426S |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,927,087 (GRCm39) |
D813G |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,547,182 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,975 (GRCm39) |
I547T |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,920 (GRCm39) |
D24G |
possibly damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,287 (GRCm39) |
R792H |
probably damaging |
Het |
| Zfp607a |
A |
G |
7: 27,577,944 (GRCm39) |
D338G |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,450,771 (GRCm39) |
R114C |
possibly damaging |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AACATGCCAATCCTATTTCTGC -3'
(R):5'- GGAATGTTACAGGCCTTGAATGG -3'
Sequencing Primer
(F):5'- TGTGACTGCAGGAAATTCTCC -3'
(R):5'- CCTTGAATGGCAGGGCTCTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation