Incidental Mutation 'R1200:Acat1'
| ID |
101299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acat1
|
| Ensembl Gene |
ENSMUSG00000032047 |
| Gene Name |
acetyl-Coenzyme A acetyltransferase 1 |
| Synonyms |
Acat, 6330585C21Rik |
| MMRRC Submission |
039270-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.295)
|
| Stock # |
R1200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
53491822-53521650 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53494810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 361
(I361F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034547]
|
| AlphaFold |
Q8QZT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034547
AA Change: I361F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034547
Gene: ENSMUSG00000032047
AA Change: I361F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thiolase_N
|
39 |
296 |
3.7e-98 |
PFAM |
|
Pfam:ketoacyl-synt
|
104 |
166 |
1.1e-8 |
PFAM |
|
Pfam:Thiolase_C
|
303 |
423 |
1.5e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169317
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Akp3 |
T |
A |
1: 87,052,982 (GRCm39) |
I57N |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Axin2 |
C |
A |
11: 108,822,376 (GRCm39) |
D309E |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,436,129 (GRCm39) |
P207T |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,107,626 (GRCm39) |
A1212E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,246,403 (GRCm39) |
I580M |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,973,157 (GRCm39) |
T146A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,496,738 (GRCm39) |
F613S |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,594 (GRCm39) |
D503G |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,945,631 (GRCm39) |
T2M |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,393,406 (GRCm39) |
L4095S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,607,739 (GRCm39) |
Y614C |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,466,742 (GRCm39) |
F616L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,916,882 (GRCm39) |
Y401N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,057,657 (GRCm39) |
Y6144C |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,178 (GRCm39) |
F308L |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,341,806 (GRCm39) |
V309L |
possibly damaging |
Het |
| Or51aa2 |
T |
A |
7: 103,188,274 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,477 (GRCm39) |
L51Q |
probably damaging |
Het |
| Pex1 |
G |
A |
5: 3,656,411 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
T |
3: 28,103,435 (GRCm39) |
D380V |
probably damaging |
Het |
| Prdm1 |
A |
G |
10: 44,326,126 (GRCm39) |
Y148H |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,722,087 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,705,163 (GRCm39) |
T689I |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,239 (GRCm39) |
H94Q |
probably benign |
Het |
| Vmn2r13 |
T |
G |
5: 109,322,068 (GRCm39) |
I210L |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,370,675 (GRCm39) |
E402G |
probably damaging |
Het |
|
| Other mutations in Acat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Acat1
|
APN |
9 |
53,493,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02160:Acat1
|
APN |
9 |
53,503,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02246:Acat1
|
APN |
9 |
53,496,166 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02582:Acat1
|
APN |
9 |
53,506,045 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL03028:Acat1
|
APN |
9 |
53,506,062 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0637:Acat1
|
UTSW |
9 |
53,498,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1302:Acat1
|
UTSW |
9 |
53,500,525 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1331:Acat1
|
UTSW |
9 |
53,496,183 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3683:Acat1
|
UTSW |
9 |
53,498,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Acat1
|
UTSW |
9 |
53,502,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Acat1
|
UTSW |
9 |
53,494,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5354:Acat1
|
UTSW |
9 |
53,500,483 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5411:Acat1
|
UTSW |
9 |
53,493,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Acat1
|
UTSW |
9 |
53,494,807 (GRCm39) |
nonsense |
probably null |
|
|
R5634:Acat1
|
UTSW |
9 |
53,494,921 (GRCm39) |
intron |
probably benign |
|
|
R5905:Acat1
|
UTSW |
9 |
53,503,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Acat1
|
UTSW |
9 |
53,503,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Acat1
|
UTSW |
9 |
53,503,329 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8298:Acat1
|
UTSW |
9 |
53,505,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9057:Acat1
|
UTSW |
9 |
53,503,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Acat1
|
UTSW |
9 |
53,494,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTCGTGTTTCAAGCCACAG -3'
(R):5'- GATGCGTGGCAACAGACAAAACTATC -3'
Sequencing Primer
(F):5'- CCACAGAAGTGCTAACTGTGTTC -3'
(R):5'- CACCTTTTCAAACATCTGTGGAGAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation