Incidental Mutation 'R0063:Acss1'
| ID |
17242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acss1
|
| Ensembl Gene |
ENSMUSG00000027452 |
| Gene Name |
acyl-CoA synthetase short-chain family member 1 |
| Synonyms |
Acas2, 1110032O15Rik, AceCS2, Acas2l |
| MMRRC Submission |
038355-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0063 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150460031-150510160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150469212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 435
(T435A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028944]
|
| AlphaFold |
Q99NB1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028944
AA Change: T435A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: T435A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
29 |
N/A |
INTRINSIC |
|
Pfam:ACAS_N
|
51 |
107 |
8.6e-17 |
PFAM |
|
Pfam:AMP-binding
|
108 |
549 |
2.5e-90 |
PFAM |
|
Pfam:AMP-binding_C
|
557 |
635 |
7.9e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147135
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154328
|
| Meta Mutation Damage Score |
0.8135 |
| Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
| Validation Efficiency |
99% (86/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice with disruptions in this gene display abnormalities in acetate metabolism. Ability to maintain body temperature under fasting conditions is reduced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
| 4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
| Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
| Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
| Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
| Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
| Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
| Cdipt |
G |
A |
7: 126,578,772 (GRCm39) |
V160I |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
| Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
| Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
| Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
| Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
| Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
| Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
| Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
| Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
| Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
| Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
| Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
probably damaging |
Het |
|
| Other mutations in Acss1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Acss1
|
APN |
2 |
150,461,606 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01594:Acss1
|
APN |
2 |
150,463,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01781:Acss1
|
APN |
2 |
150,479,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02189:Acss1
|
APN |
2 |
150,471,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02735:Acss1
|
APN |
2 |
150,480,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Acss1
|
APN |
2 |
150,466,792 (GRCm39) |
splice site |
probably benign |
|
|
IGL03399:Acss1
|
APN |
2 |
150,479,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cutlass
|
UTSW |
2 |
150,510,051 (GRCm39) |
nonsense |
probably null |
|
|
oathkeeper
|
UTSW |
2 |
150,501,823 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
oilseller
|
UTSW |
2 |
150,509,801 (GRCm39) |
splice site |
probably null |
|
|
scimitar
|
UTSW |
2 |
150,470,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0058:Acss1
|
UTSW |
2 |
150,470,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0063:Acss1
|
UTSW |
2 |
150,469,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Acss1
|
UTSW |
2 |
150,484,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1651:Acss1
|
UTSW |
2 |
150,480,357 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2066:Acss1
|
UTSW |
2 |
150,510,051 (GRCm39) |
nonsense |
probably null |
|
|
R4414:Acss1
|
UTSW |
2 |
150,501,823 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4559:Acss1
|
UTSW |
2 |
150,480,405 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4893:Acss1
|
UTSW |
2 |
150,471,786 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6408:Acss1
|
UTSW |
2 |
150,470,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6459:Acss1
|
UTSW |
2 |
150,509,840 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7593:Acss1
|
UTSW |
2 |
150,461,688 (GRCm39) |
nonsense |
probably null |
|
|
R7598:Acss1
|
UTSW |
2 |
150,480,370 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8084:Acss1
|
UTSW |
2 |
150,484,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8087:Acss1
|
UTSW |
2 |
150,484,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Acss1
|
UTSW |
2 |
150,509,801 (GRCm39) |
splice site |
probably null |
|
|
R8213:Acss1
|
UTSW |
2 |
150,461,630 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8972:Acss1
|
UTSW |
2 |
150,484,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9064:Acss1
|
UTSW |
2 |
150,463,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9708:Acss1
|
UTSW |
2 |
150,471,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation