Incidental Mutation 'IGL02452:Acadm'
| ID |
293709 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acadm
|
| Ensembl Gene |
ENSMUSG00000062908 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, medium chain |
| Synonyms |
MCAD |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02452
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
153627994-153650269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 153647607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 11
(V11F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072697]
[ENSMUST00000150070]
[ENSMUST00000156310]
|
| AlphaFold |
P45952 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072697
AA Change: V11F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: V11F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
42 |
152 |
2e-27 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
157 |
255 |
2.3e-26 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
267 |
416 |
1.7e-48 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
283 |
405 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150070
|
| SMART Domains |
Protein: ENSMUSP00000121714
Gene: ENSMUSG00000062908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
36 |
121 |
5.4e-21 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
125 |
144 |
5.6e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156310
AA Change: V11F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122989
Gene: ENSMUSG00000062908
AA Change: V11F
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2A1T|D
|
1 |
77 |
2e-30 |
PDB |
|
SCOP:d3mdda2
|
36 |
88 |
2e-9 |
SMART |
|
low complexity region
|
101 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200250
|
| 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 length between C6- and C12-acylCoA. In mice, deficiency of this gene can cause neonatal mortality as well as fasting and cold intolerance. This gene has multiple, intronless pseudogenes. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
A |
T |
17: 72,209,620 (GRCm39) |
Y941* |
probably null |
Het |
| Blm |
A |
T |
7: 80,153,125 (GRCm39) |
|
probably null |
Het |
| Blvrb |
T |
C |
7: 27,158,765 (GRCm39) |
V55A |
possibly damaging |
Het |
| Cdh23 |
T |
A |
10: 60,153,721 (GRCm39) |
T2288S |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,915,067 (GRCm39) |
M242K |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,676,827 (GRCm39) |
H173L |
probably benign |
Het |
| Cyp2g1 |
T |
A |
7: 26,510,871 (GRCm39) |
S131T |
probably benign |
Het |
| Dusp29 |
G |
A |
14: 21,752,990 (GRCm39) |
T52I |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,758,900 (GRCm39) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,208,274 (GRCm39) |
S427P |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,699,006 (GRCm39) |
D2424E |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,746,257 (GRCm39) |
M198I |
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,292,576 (GRCm39) |
S404R |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,806 (GRCm39) |
C105S |
unknown |
Het |
| Hdlbp |
A |
T |
1: 93,345,233 (GRCm39) |
V714D |
probably damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,816 (GRCm39) |
V25A |
probably benign |
Het |
| Igkv8-27 |
C |
T |
6: 70,148,925 (GRCm39) |
W76* |
probably null |
Het |
| Ikzf1 |
T |
C |
11: 11,698,545 (GRCm39) |
L132P |
probably damaging |
Het |
| Kcna6 |
C |
A |
6: 126,715,443 (GRCm39) |
C482F |
possibly damaging |
Het |
| Lhx9 |
A |
T |
1: 138,769,580 (GRCm39) |
L47Q |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,304,347 (GRCm39) |
D175E |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,815 (GRCm39) |
K451E |
probably damaging |
Het |
| Mcm9 |
C |
T |
10: 53,417,653 (GRCm39) |
V17M |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,222,492 (GRCm39) |
S475R |
probably benign |
Het |
| Mmp24 |
C |
T |
2: 155,657,708 (GRCm39) |
R533C |
probably damaging |
Het |
| Moxd1 |
C |
T |
10: 24,158,650 (GRCm39) |
P435S |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,927,670 (GRCm39) |
I497N |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,473 (GRCm39) |
V422A |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,486,907 (GRCm39) |
F260Y |
probably damaging |
Het |
| Nfasc |
C |
T |
1: 132,548,662 (GRCm39) |
|
probably null |
Het |
| Nid1 |
A |
T |
13: 13,683,305 (GRCm39) |
T1128S |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,129,461 (GRCm39) |
E906K |
probably damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,138 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,414,746 (GRCm39) |
P793L |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,726,980 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,637,185 (GRCm39) |
N161K |
possibly damaging |
Het |
| Prpf6 |
T |
G |
2: 181,290,878 (GRCm39) |
N656K |
probably benign |
Het |
| Ptprn |
T |
A |
1: 75,234,813 (GRCm39) |
H258L |
probably benign |
Het |
| Rab19 |
A |
G |
6: 39,366,732 (GRCm39) |
T216A |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,664,335 (GRCm39) |
L1652W |
probably damaging |
Het |
| Six2 |
A |
C |
17: 85,992,806 (GRCm39) |
S232R |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,707 (GRCm39) |
V663A |
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,195,449 (GRCm39) |
N252S |
probably benign |
Het |
| Spata31e4 |
A |
T |
13: 50,857,113 (GRCm39) |
H917L |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,655,810 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
G |
16: 90,758,253 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,218,645 (GRCm39) |
H36R |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,962,403 (GRCm39) |
M1258K |
probably damaging |
Het |
| Txnrd3 |
T |
C |
6: 89,651,777 (GRCm39) |
*502Q |
probably null |
Het |
|
| Other mutations in Acadm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02598:Acadm
|
APN |
3 |
153,644,181 (GRCm39) |
splice site |
probably benign |
|
|
IGL02642:Acadm
|
APN |
3 |
153,644,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Acadm
|
UTSW |
3 |
153,647,512 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Acadm
|
UTSW |
3 |
153,641,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1543:Acadm
|
UTSW |
3 |
153,635,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Acadm
|
UTSW |
3 |
153,635,889 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1955:Acadm
|
UTSW |
3 |
153,635,188 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2281:Acadm
|
UTSW |
3 |
153,638,680 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3774:Acadm
|
UTSW |
3 |
153,638,734 (GRCm39) |
missense |
probably benign |
|
|
R4768:Acadm
|
UTSW |
3 |
153,628,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4994:Acadm
|
UTSW |
3 |
153,635,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:Acadm
|
UTSW |
3 |
153,638,755 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5523:Acadm
|
UTSW |
3 |
153,644,273 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5927:Acadm
|
UTSW |
3 |
153,644,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6109:Acadm
|
UTSW |
3 |
153,647,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Acadm
|
UTSW |
3 |
153,644,186 (GRCm39) |
splice site |
probably null |
|
|
R6896:Acadm
|
UTSW |
3 |
153,641,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7108:Acadm
|
UTSW |
3 |
153,631,437 (GRCm39) |
nonsense |
probably null |
|
|
R7182:Acadm
|
UTSW |
3 |
153,647,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7334:Acadm
|
UTSW |
3 |
153,644,698 (GRCm39) |
nonsense |
probably null |
|
|
R7440:Acadm
|
UTSW |
3 |
153,628,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Acadm
|
UTSW |
3 |
153,644,250 (GRCm39) |
nonsense |
probably null |
|
|
R8170:Acadm
|
UTSW |
3 |
153,650,035 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8405:Acadm
|
UTSW |
3 |
153,635,165 (GRCm39) |
splice site |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation