Incidental Mutation 'R4768:Acadm'
| ID |
366266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acadm
|
| Ensembl Gene |
ENSMUSG00000062908 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, medium chain |
| Synonyms |
MCAD |
| MMRRC Submission |
042409-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4768 (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 153628579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 419
(Y419H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072697]
|
| AlphaFold |
P45952 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072697
AA Change: Y419H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000072483
Gene: ENSMUSG00000062908
AA Change: Y419H
| 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: ENSMUST00000196688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200250
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
A |
G |
14: 68,872,264 (GRCm39) |
V326A |
possibly damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,370,346 (GRCm39) |
E164V |
possibly damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,604,275 (GRCm39) |
L29S |
probably damaging |
Het |
| Asb5 |
G |
A |
8: 55,038,031 (GRCm39) |
D185N |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,576,595 (GRCm39) |
I850T |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| Bmp4 |
C |
T |
14: 46,623,381 (GRCm39) |
R55Q |
probably damaging |
Het |
| Brd8dc |
T |
C |
18: 34,714,005 (GRCm39) |
R207G |
probably damaging |
Het |
| Cmas |
T |
C |
6: 142,710,157 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,420,827 (GRCm39) |
D531G |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,877,792 (GRCm39) |
L44P |
probably damaging |
Het |
| Fam13c |
T |
A |
10: 70,387,580 (GRCm39) |
I448N |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,618,766 (GRCm39) |
T331A |
probably benign |
Het |
| Fut8 |
A |
G |
12: 77,412,054 (GRCm39) |
K135E |
probably benign |
Het |
| Gabrg1 |
A |
G |
5: 70,911,516 (GRCm39) |
F370S |
probably damaging |
Het |
| Ighv1-5 |
A |
T |
12: 114,477,143 (GRCm39) |
M53K |
probably damaging |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Kansl1l |
A |
G |
1: 66,840,292 (GRCm39) |
V336A |
probably damaging |
Het |
| Krt27 |
T |
A |
11: 99,240,351 (GRCm39) |
D189V |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,949,461 (GRCm39) |
F1033I |
possibly damaging |
Het |
| Mdfi |
G |
A |
17: 48,135,475 (GRCm39) |
T85M |
probably damaging |
Het |
| Mrgpra3 |
C |
A |
7: 47,239,476 (GRCm39) |
R150L |
possibly damaging |
Het |
| Mst1r |
C |
A |
9: 107,788,849 (GRCm39) |
T456K |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,263,099 (GRCm39) |
M1734K |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,277,751 (GRCm39) |
I816T |
possibly damaging |
Het |
| Or7d10 |
A |
C |
9: 19,831,841 (GRCm39) |
N112T |
possibly damaging |
Het |
| Or8b12 |
T |
C |
9: 37,658,177 (GRCm39) |
L249P |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,727,245 (GRCm39) |
Y149N |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,994 (GRCm39) |
L207* |
probably null |
Het |
| Pde4d |
A |
G |
13: 110,070,408 (GRCm39) |
R6G |
probably damaging |
Het |
| Pilrb1 |
G |
A |
5: 137,855,788 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,085,334 (GRCm39) |
Y199H |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,175 (GRCm39) |
D73G |
probably damaging |
Het |
| Ryr1 |
G |
T |
7: 28,704,246 (GRCm39) |
|
probably benign |
Het |
| Shprh |
A |
G |
10: 11,057,284 (GRCm39) |
E1068G |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 83,000,834 (GRCm39) |
T61I |
probably damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
| Suclg2 |
T |
G |
6: 95,543,469 (GRCm39) |
I321L |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,599,110 (GRCm39) |
|
probably benign |
Het |
| Upp2 |
T |
C |
2: 58,667,907 (GRCm39) |
V182A |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,602 (GRCm39) |
L151P |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,561,298 (GRCm39) |
D155G |
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,154,420 (GRCm39) |
D557G |
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 |
|
R3774:Acadm
|
UTSW |
3 |
153,638,734 (GRCm39) |
missense |
probably benign |
|
|
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 |
PCR Primer
(F):5'- AAGACAGGTTCCTCCGCCAT -3'
(R):5'- AGCCTGCCTTCTAATTTTGCAAA -3'
Sequencing Primer
(F):5'- TGGGAATCCGCTGCACAGATC -3'
(R):5'- ACTAGTGTGTAATGCTATGTATT -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation