Incidental Mutation 'IGL02650:Acads'
| ID |
302110 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acads
|
| Ensembl Gene |
ENSMUSG00000029545 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, short chain |
| Synonyms |
Bcd1, SCAD, Bcd-1, Hdlq8 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.361)
|
| Stock # |
IGL02650
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115248358-115257405 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115250874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 141
(T141N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031524]
|
| AlphaFold |
Q07417 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031524
AA Change: T141N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031524
Gene: ENSMUSG00000029545
AA Change: T141N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:Acyl-CoA_dh_N
|
35 |
147 |
1e-37 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
151 |
246 |
6.1e-28 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
258 |
407 |
3.6e-52 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
273 |
396 |
6e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000100847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201888
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the Acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum at C(four)-CoA. In mice, deficiency of this gene has been linked to cold sensitivity and increased high-density lipoprotein levels. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display organic aciduria and develop hypoglycemia and fatty livers after fasting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,881 (GRCm39) |
T586A |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,808,745 (GRCm39) |
R721H |
probably damaging |
Het |
| Appl1 |
A |
G |
14: 26,672,665 (GRCm39) |
V236A |
possibly damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,249,869 (GRCm39) |
Q207* |
probably null |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atp6v0a2 |
G |
T |
5: 124,789,426 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,384,670 (GRCm39) |
K2537E |
possibly damaging |
Het |
| Cox7a1 |
A |
T |
7: 29,884,562 (GRCm39) |
E32V |
possibly damaging |
Het |
| Dis3 |
A |
T |
14: 99,336,221 (GRCm39) |
M95K |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,289,193 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dynlt5 |
C |
A |
4: 102,845,803 (GRCm39) |
Q12K |
probably benign |
Het |
| Ghsr |
A |
T |
3: 27,429,004 (GRCm39) |
Q343L |
probably benign |
Het |
| Gm3252 |
T |
A |
14: 4,746,353 (GRCm38) |
V215E |
probably damaging |
Het |
| Gm9979 |
A |
G |
13: 40,859,225 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 48,977,331 (GRCm39) |
M867K |
probably benign |
Het |
| Grm7 |
A |
G |
6: 111,335,919 (GRCm39) |
T777A |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,890,886 (GRCm39) |
Q1310L |
possibly damaging |
Het |
| Ifi44 |
A |
G |
3: 151,451,492 (GRCm39) |
F205L |
probably damaging |
Het |
| Igkv4-86 |
T |
C |
6: 68,887,617 (GRCm39) |
I40V |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,957,505 (GRCm39) |
D69G |
possibly damaging |
Het |
| Lrch1 |
T |
C |
14: 75,051,138 (GRCm39) |
D333G |
probably damaging |
Het |
| Mapre3 |
T |
A |
5: 31,022,053 (GRCm39) |
I187N |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,337 (GRCm39) |
|
probably null |
Het |
| Nanos2 |
C |
T |
7: 18,721,794 (GRCm39) |
P89S |
probably damaging |
Het |
| Or4c109 |
T |
A |
2: 88,818,424 (GRCm39) |
M41L |
probably benign |
Het |
| Parp16 |
G |
A |
9: 65,141,098 (GRCm39) |
V223I |
probably damaging |
Het |
| Rnf123 |
A |
G |
9: 107,946,947 (GRCm39) |
M231T |
probably benign |
Het |
| Suco |
C |
A |
1: 161,676,322 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
G |
T |
16: 90,773,584 (GRCm39) |
T459N |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,975,040 (GRCm39) |
Q732* |
probably null |
Het |
| Tas2r102 |
A |
G |
6: 132,739,173 (GRCm39) |
N27S |
probably null |
Het |
| Tll1 |
C |
T |
8: 64,500,031 (GRCm39) |
|
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,916 (GRCm39) |
I258V |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,535 (GRCm39) |
M783K |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,301,223 (GRCm39) |
V742I |
probably benign |
Het |
|
| Other mutations in Acads |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02325:Acads
|
APN |
5 |
115,250,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Academia
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Acads
|
UTSW |
5 |
115,255,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3110:Acads
|
UTSW |
5 |
115,255,757 (GRCm39) |
missense |
probably benign |
|
|
R3112:Acads
|
UTSW |
5 |
115,255,757 (GRCm39) |
missense |
probably benign |
|
|
R4109:Acads
|
UTSW |
5 |
115,248,913 (GRCm39) |
makesense |
probably null |
|
|
R4595:Acads
|
UTSW |
5 |
115,251,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Acads
|
UTSW |
5 |
115,251,149 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6841:Acads
|
UTSW |
5 |
115,250,417 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6932:Acads
|
UTSW |
5 |
115,250,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Acads
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Acads
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Acads
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Acads
|
UTSW |
5 |
115,250,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Acads
|
UTSW |
5 |
115,255,710 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8071:Acads
|
UTSW |
5 |
115,251,226 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9484:Acads
|
UTSW |
5 |
115,250,845 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Acads
|
UTSW |
5 |
115,249,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation