Incidental Mutation 'R1520:Agpat3'
ID |
167385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Agpat3
|
Ensembl Gene |
ENSMUSG00000001211 |
Gene Name |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
Synonyms |
D10Jhu12e, LPAAT3 |
MMRRC Submission |
039564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R1520 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78105012-78188323 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 78123857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001240]
[ENSMUST00000105387]
[ENSMUST00000105388]
[ENSMUST00000105389]
[ENSMUST00000105390]
[ENSMUST00000138035]
[ENSMUST00000166360]
[ENSMUST00000146899]
[ENSMUST00000139282]
[ENSMUST00000150828]
[ENSMUST00000219932]
|
AlphaFold |
Q9D517 |
Predicted Effect |
probably null
Transcript: ENSMUST00000001240
AA Change: M1K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000001240 Gene: ENSMUSG00000001211 AA Change: M1K
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 null
Transcript: ENSMUST00000105387
AA Change: M1K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101026 Gene: ENSMUSG00000001211 AA Change: M1K
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 null
Transcript: ENSMUST00000105388
AA Change: M1K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101027 Gene: ENSMUSG00000001211 AA Change: M1K
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 null
Transcript: ENSMUST00000105389
AA Change: M1K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101028 Gene: ENSMUSG00000001211 AA Change: M1K
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 null
Transcript: ENSMUST00000105390
AA Change: M1K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101029 Gene: ENSMUSG00000001211 AA Change: M1K
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 null
Transcript: ENSMUST00000138035
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000121052 Gene: ENSMUSG00000001211 AA Change: M1K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166360
AA Change: M1K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132954 Gene: ENSMUSG00000001211 AA Change: M1K
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 null
Transcript: ENSMUST00000146899
AA Change: M1K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114657 Gene: ENSMUSG00000001211 AA Change: M1K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139282
AA Change: M1K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119713 Gene: ENSMUSG00000001211 AA Change: M1K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Pfam:Acyltransferase
|
72 |
144 |
3.1e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150828
AA Change: M1K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114885 Gene: ENSMUSG00000001211 AA Change: M1K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
Blast:PlsC
|
90 |
129 |
5e-20 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219932
AA Change: H1Q
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219907
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,844,664 (GRCm39) |
N1491S |
possibly damaging |
Het |
Abcb1b |
G |
A |
5: 8,864,768 (GRCm39) |
A249T |
probably damaging |
Het |
Acacb |
A |
G |
5: 114,340,001 (GRCm39) |
D804G |
possibly damaging |
Het |
Akr1c12 |
A |
C |
13: 4,326,298 (GRCm39) |
I61R |
probably damaging |
Het |
Antxr2 |
G |
A |
5: 98,108,551 (GRCm39) |
A320V |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,908,231 (GRCm39) |
Y410* |
probably null |
Het |
Arhgef1 |
A |
G |
7: 24,619,129 (GRCm39) |
R454G |
probably damaging |
Het |
C1ql4 |
T |
C |
15: 98,985,548 (GRCm39) |
H21R |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,725,857 (GRCm39) |
S3029P |
probably damaging |
Het |
Chaf1a |
T |
C |
17: 56,354,302 (GRCm39) |
C191R |
unknown |
Het |
Corin |
A |
C |
5: 72,488,238 (GRCm39) |
C627G |
probably damaging |
Het |
Cyp3a11 |
T |
C |
5: 145,799,263 (GRCm39) |
Y308C |
probably damaging |
Het |
Cyp4a32 |
A |
G |
4: 115,471,849 (GRCm39) |
N420S |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,730,266 (GRCm39) |
S889P |
probably damaging |
Het |
Eng |
A |
G |
2: 32,562,953 (GRCm39) |
H267R |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,839,644 (GRCm39) |
|
probably benign |
Het |
Fmo9 |
G |
T |
1: 166,495,024 (GRCm39) |
H292Q |
probably benign |
Het |
Frmpd4 |
T |
C |
X: 166,275,949 (GRCm39) |
S373G |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,058 (GRCm39) |
I2459K |
possibly damaging |
Het |
Gbp5 |
A |
T |
3: 142,213,775 (GRCm39) |
H523L |
probably damaging |
Het |
Gpr65 |
T |
C |
12: 98,241,434 (GRCm39) |
V29A |
probably benign |
Het |
Igkv7-33 |
T |
A |
6: 70,036,132 (GRCm39) |
|
probably benign |
Het |
Iqcc |
G |
A |
4: 129,510,762 (GRCm39) |
T251I |
possibly damaging |
Het |
Jund |
A |
G |
8: 71,151,923 (GRCm39) |
T73A |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
Mcm8 |
T |
C |
2: 132,681,375 (GRCm39) |
V617A |
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,065,493 (GRCm39) |
F646L |
probably benign |
Het |
Morc3 |
A |
G |
16: 93,641,129 (GRCm39) |
K54E |
probably damaging |
Het |
Mutyh |
T |
C |
4: 116,674,749 (GRCm39) |
L357P |
probably damaging |
Het |
Mylk4 |
T |
C |
13: 32,896,821 (GRCm39) |
|
probably null |
Het |
Or4k41 |
G |
A |
2: 111,279,619 (GRCm39) |
V45I |
probably benign |
Het |
Osbpl3 |
T |
A |
6: 50,323,411 (GRCm39) |
D224V |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,835,863 (GRCm39) |
I469T |
probably damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,772,898 (GRCm39) |
V1043A |
probably benign |
Het |
Plod3 |
A |
G |
5: 137,020,165 (GRCm39) |
N460S |
probably damaging |
Het |
Preb |
A |
G |
5: 31,115,868 (GRCm39) |
F192L |
probably benign |
Het |
Prkra |
T |
C |
2: 76,469,622 (GRCm39) |
T146A |
possibly damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rag2 |
T |
C |
2: 101,460,476 (GRCm39) |
I262T |
probably damaging |
Het |
Rgr |
A |
G |
14: 36,766,672 (GRCm39) |
W125R |
probably damaging |
Het |
Rit1 |
T |
A |
3: 88,636,620 (GRCm39) |
F211I |
probably benign |
Het |
Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
Serinc2 |
C |
T |
4: 130,154,543 (GRCm39) |
V234I |
probably benign |
Het |
Srp54b |
T |
C |
12: 55,304,354 (GRCm39) |
M434T |
possibly damaging |
Het |
Srrt |
C |
A |
5: 137,297,028 (GRCm39) |
R69L |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,807,077 (GRCm39) |
L191P |
probably damaging |
Het |
Tcf12 |
C |
A |
9: 71,790,388 (GRCm39) |
|
probably null |
Het |
Tmem273 |
A |
T |
14: 32,527,083 (GRCm39) |
|
probably benign |
Het |
Tmem87b |
T |
C |
2: 128,681,176 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,647,392 (GRCm39) |
E11031G |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,778,663 (GRCm39) |
T1017S |
probably benign |
Het |
Urb1 |
C |
A |
16: 90,571,633 (GRCm39) |
V1059L |
probably benign |
Het |
V1rd19 |
G |
A |
7: 23,702,623 (GRCm39) |
A30T |
probably damaging |
Het |
Vldlr |
C |
T |
19: 27,217,943 (GRCm39) |
L91F |
probably damaging |
Het |
Vldlr |
G |
T |
19: 27,224,466 (GRCm39) |
A770S |
possibly damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,594 (GRCm39) |
T807A |
probably damaging |
Het |
Wwox |
C |
T |
8: 115,438,873 (GRCm39) |
P313L |
probably benign |
Het |
Zap70 |
T |
C |
1: 36,810,036 (GRCm39) |
S49P |
probably damaging |
Het |
Zfp317 |
A |
G |
9: 19,559,144 (GRCm39) |
I453V |
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 |
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 |
PCR Primer
(F):5'- ATGACCTCAGGGAACCAGAGATGC -3'
(R):5'- TGTTTGTCCATCAGCTTTCCAGGG -3'
Sequencing Primer
(F):5'- CTTATGGGCGAGGACACTTAC -3'
(R):5'- GGGCAGCCTCTCTCTAAAC -3'
|
Posted On |
2014-04-13 |