Incidental Mutation 'R5880:Acaa2'
| ID |
490497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acaa2
|
| Ensembl Gene |
ENSMUSG00000036880 |
| Gene Name |
acetyl-CoA acyltransferase 2 |
| Synonyms |
0610011L04Rik, D18Ertd240e |
| MMRRC Submission |
043235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
R5880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
74912283-74939278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74937072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 319
(V319M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041053]
|
| AlphaFold |
Q8BWT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041053
AA Change: V319M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037348
Gene: ENSMUSG00000036880
AA Change: V319M
| 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 |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 93.4%
- 20x: 74.5%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
T |
A |
4: 154,751,747 (GRCm39) |
T130S |
probably benign |
Het |
| Ap1g2 |
A |
G |
14: 55,340,157 (GRCm39) |
S392P |
probably damaging |
Het |
| Cby2 |
C |
T |
14: 75,821,243 (GRCm39) |
V119I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,220,713 (GRCm39) |
N1344Y |
probably damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,918 (GRCm39) |
H469Q |
possibly damaging |
Het |
| Dhodh |
T |
A |
8: 110,321,409 (GRCm39) |
T326S |
probably benign |
Het |
| Ebf3 |
T |
G |
7: 136,800,367 (GRCm39) |
N529T |
probably benign |
Het |
| Echdc2 |
A |
C |
4: 108,030,097 (GRCm39) |
I133L |
possibly damaging |
Het |
| Fbn2 |
A |
T |
18: 58,156,354 (GRCm39) |
C2488* |
probably null |
Het |
| Fndc3b |
T |
A |
3: 27,483,052 (GRCm39) |
T1049S |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,252 (GRCm39) |
Y643C |
probably damaging |
Het |
| Il15ra |
A |
G |
2: 11,735,426 (GRCm39) |
*104W |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,024,509 (GRCm39) |
S628R |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,231,826 (GRCm39) |
V1215M |
probably benign |
Het |
| Mmp20 |
G |
A |
9: 7,655,002 (GRCm39) |
R370Q |
probably benign |
Het |
| Or10al4 |
T |
C |
17: 38,037,545 (GRCm39) |
V219A |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,543 (GRCm39) |
M81K |
possibly damaging |
Het |
| Or4k6 |
A |
G |
14: 50,476,172 (GRCm39) |
S57P |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,299,382 (GRCm39) |
H168L |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,894 (GRCm39) |
I319N |
probably damaging |
Het |
| Rgs20 |
A |
T |
1: 4,994,104 (GRCm39) |
C93S |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,016,263 (GRCm39) |
V733A |
possibly damaging |
Het |
| Tet3 |
G |
C |
6: 83,347,532 (GRCm39) |
P1154R |
probably damaging |
Het |
|
| Other mutations in Acaa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Acaa2
|
APN |
18 |
74,926,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGTACACATAGGCACCTAC -3'
(R):5'- CATGATTTCTAGCGAGTACCTTAACTC -3'
Sequencing Primer
(F):5'- GTACACATAGGCACCTACTAACTATG -3'
(R):5'- CTTAACTCATGAACCAGGTGTGCG -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation