Incidental Mutation 'R3774:Acadm'
| ID |
273492 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3774 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
153627994-153650269 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153638734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 213
(V213A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072697]
[ENSMUST00000150070]
[ENSMUST00000156310]
|
| AlphaFold |
P45952 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072697
AA Change: V213A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: V213A
| 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 |
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 benign
Transcript: ENSMUST00000156310
|
| SMART Domains |
Protein: ENSMUSP00000122989
Gene: ENSMUSG00000062908
| 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: ENSMUST00000196688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200250
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccndbp1 |
A |
G |
2: 120,839,581 (GRCm39) |
K26R |
possibly damaging |
Het |
| Chrna10 |
T |
C |
7: 101,763,535 (GRCm39) |
T87A |
probably benign |
Het |
| Col27a1 |
T |
A |
4: 63,232,963 (GRCm39) |
N360K |
probably benign |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,022 (GRCm39) |
I79N |
probably damaging |
Het |
| Dhdh |
T |
A |
7: 45,131,362 (GRCm39) |
D157V |
probably benign |
Het |
| Dnajc15 |
A |
T |
14: 78,094,377 (GRCm39) |
|
probably null |
Het |
| Fbxo44 |
G |
T |
4: 148,241,051 (GRCm39) |
F179L |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,622,308 (GRCm39) |
E630G |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,213,048 (GRCm39) |
S159P |
probably damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,502 (GRCm39) |
Y242C |
probably damaging |
Het |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Olfm5 |
T |
A |
7: 103,811,056 (GRCm39) |
R27S |
possibly damaging |
Het |
| Or52n2b |
T |
A |
7: 104,566,113 (GRCm39) |
Y130F |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,721,312 (GRCm39) |
E81G |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Phf11b |
A |
G |
14: 59,563,506 (GRCm39) |
L137S |
probably benign |
Het |
| Phlpp1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
1: 106,320,921 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,800,065 (GRCm39) |
K472E |
probably benign |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,134,262 (GRCm39) |
H261R |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rad23b |
C |
T |
4: 55,382,589 (GRCm39) |
T264I |
possibly damaging |
Het |
| Rfc1 |
T |
C |
5: 65,421,749 (GRCm39) |
Y1050C |
probably damaging |
Het |
| Septin8 |
T |
C |
11: 53,428,406 (GRCm39) |
V352A |
probably damaging |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,104,783 (GRCm39) |
D12G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,965,339 (GRCm39) |
S1611R |
probably benign |
Het |
| Ttyh3 |
A |
G |
5: 140,634,489 (GRCm39) |
F32L |
probably damaging |
Het |
| Unkl |
T |
A |
17: 25,407,381 (GRCm39) |
|
probably null |
Het |
| Vwf |
T |
A |
6: 125,626,062 (GRCm39) |
|
probably null |
Het |
| Wdr11 |
T |
A |
7: 129,233,417 (GRCm39) |
|
probably null |
Het |
| Yeats2 |
A |
G |
16: 19,969,245 (GRCm39) |
D12G |
probably damaging |
Het |
|
| Other mutations in Acadm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02452:Acadm
|
APN |
3 |
153,647,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2015-03-25 |
Incidental Mutation