Incidental Mutation 'IGL00566:Acaa2'
| ID |
3293 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acaa2
|
| Ensembl Gene |
ENSMUSG00000036880 |
| Gene Name |
acetyl-CoA acyltransferase 2 |
| Synonyms |
0610011L04Rik, D18Ertd240e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
IGL00566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
74912283-74939278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74926449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 135
(G135E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041053]
|
| AlphaFold |
Q8BWT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041053
AA Change: G135E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037348
Gene: ENSMUSG00000036880
AA Change: G135E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
7 |
266 |
1.4e-95 |
PFAM |
|
Pfam:Thiolase_C
|
273 |
395 |
9e-52 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,815 (GRCm39) |
T173A |
possibly damaging |
Het |
| Actr2 |
C |
A |
11: 20,022,487 (GRCm39) |
R328L |
possibly damaging |
Het |
| Adam1b |
T |
C |
5: 121,639,056 (GRCm39) |
D663G |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,379,483 (GRCm39) |
E915V |
probably benign |
Het |
| Antxr2 |
G |
A |
5: 98,034,466 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,398,972 (GRCm39) |
|
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,766,410 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,240,307 (GRCm39) |
R248K |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,712 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ice2 |
T |
C |
9: 69,323,395 (GRCm39) |
V630A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,174 (GRCm39) |
V179D |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,962,653 (GRCm39) |
E15A |
probably damaging |
Het |
| Kifbp |
G |
T |
10: 62,395,118 (GRCm39) |
S508* |
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,581,670 (GRCm39) |
L333Q |
probably damaging |
Het |
| Lrguk |
A |
C |
6: 34,033,109 (GRCm39) |
L258F |
probably damaging |
Het |
| M6pr |
A |
T |
6: 122,290,337 (GRCm39) |
K100M |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,798,657 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,705,317 (GRCm39) |
V661A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,837,098 (GRCm39) |
H2815Q |
probably benign |
Het |
|
| Other mutations in Acaa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Acaa2
|
APN |
18 |
74,939,015 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0129:Acaa2
|
UTSW |
18 |
74,920,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0615:Acaa2
|
UTSW |
18 |
74,931,517 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0941:Acaa2
|
UTSW |
18 |
74,931,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1432:Acaa2
|
UTSW |
18 |
74,920,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1911:Acaa2
|
UTSW |
18 |
74,925,483 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2156:Acaa2
|
UTSW |
18 |
74,926,476 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5620:Acaa2
|
UTSW |
18 |
74,938,945 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5880:Acaa2
|
UTSW |
18 |
74,937,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Acaa2
|
UTSW |
18 |
74,925,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5966:Acaa2
|
UTSW |
18 |
74,937,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6945:Acaa2
|
UTSW |
18 |
74,926,380 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7378:Acaa2
|
UTSW |
18 |
74,938,943 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7557:Acaa2
|
UTSW |
18 |
74,928,230 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7625:Acaa2
|
UTSW |
18 |
74,937,213 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7786:Acaa2
|
UTSW |
18 |
74,925,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8164:Acaa2
|
UTSW |
18 |
74,928,318 (GRCm39) |
nonsense |
probably null |
|
|
R9016:Acaa2
|
UTSW |
18 |
74,932,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Acaa2
|
UTSW |
18 |
74,932,230 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Acaa2
|
UTSW |
18 |
74,925,480 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation