Incidental Mutation 'R7858:Acadl'
| ID |
607320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acadl
|
| Ensembl Gene |
ENSMUSG00000026003 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, long-chain |
| Synonyms |
C79855, LCAD |
| MMRRC Submission |
045911-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7858 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
66869998-66902436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66877483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 356
(E356G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027153]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027153
AA Change: E356G
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: E356G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:Acyl-CoA_dh_N
|
54 |
165 |
1.3e-33 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
169 |
266 |
9.2e-29 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
278 |
427 |
5.1e-44 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
293 |
416 |
3.4e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (32/32) |
| 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 C12- and C16-acylCoA. In mice, deficiency of this gene can cause sudden death, cardiomyopathy as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1)
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
T |
C |
7: 82,099,371 (GRCm39) |
L175P |
probably damaging |
Het |
| Apon |
T |
C |
10: 128,090,328 (GRCm39) |
I2T |
probably benign |
Het |
| Ccny |
T |
A |
18: 9,386,782 (GRCm39) |
D61V |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,025,219 (GRCm39) |
T393A |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,134 (GRCm39) |
L434P |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,436,616 (GRCm39) |
I302N |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,943,169 (GRCm39) |
S283P |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,338,350 (GRCm39) |
Y214* |
probably null |
Het |
| Gm1123 |
T |
C |
9: 98,896,107 (GRCm39) |
N258D |
possibly damaging |
Het |
| Gm9821 |
A |
T |
2: 91,776,351 (GRCm39) |
H101L |
unknown |
Het |
| Il36b |
T |
A |
2: 24,044,626 (GRCm39) |
C9S |
probably benign |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mansc1 |
T |
C |
6: 134,587,377 (GRCm39) |
T267A |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,539,103 (GRCm39) |
D200G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,357,166 (GRCm39) |
V1148L |
possibly damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,393,741 (GRCm39) |
R2940L |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,227,500 (GRCm39) |
F312L |
probably benign |
Het |
| Or4c31 |
G |
A |
2: 88,292,056 (GRCm39) |
C143Y |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,507,141 (GRCm39) |
S874T |
probably benign |
Het |
| Prmt7 |
T |
G |
8: 106,971,320 (GRCm39) |
I452S |
possibly damaging |
Het |
| Setx |
A |
C |
2: 29,051,562 (GRCm39) |
D2038A |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,215,442 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,806,273 (GRCm39) |
K473E |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,195,339 (GRCm39) |
F1290S |
probably damaging |
Het |
| Unc13b |
T |
G |
4: 43,176,285 (GRCm39) |
V2371G |
unknown |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,226 (GRCm39) |
V171I |
probably benign |
Het |
| Zfp35 |
T |
C |
18: 24,136,897 (GRCm39) |
C414R |
probably damaging |
Het |
| Zfp704 |
A |
G |
3: 9,509,217 (GRCm39) |
|
probably null |
Het |
| Zfp758 |
A |
G |
17: 22,594,359 (GRCm39) |
T282A |
probably benign |
Het |
| Zfp961 |
T |
C |
8: 72,704,949 (GRCm39) |
V4A |
unknown |
Het |
|
| Other mutations in Acadl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Acadl
|
APN |
1 |
66,880,864 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01983:Acadl
|
APN |
1 |
66,880,783 (GRCm39) |
nonsense |
probably null |
|
|
IGL02550:Acadl
|
APN |
1 |
66,884,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02934:Acadl
|
APN |
1 |
66,876,134 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03002:Acadl
|
APN |
1 |
66,876,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
B6584:Acadl
|
UTSW |
1 |
66,887,632 (GRCm39) |
splice site |
probably benign |
|
|
PIT4377001:Acadl
|
UTSW |
1 |
66,877,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Acadl
|
UTSW |
1 |
66,880,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0639:Acadl
|
UTSW |
1 |
66,896,567 (GRCm39) |
missense |
probably benign |
|
|
R1264:Acadl
|
UTSW |
1 |
66,896,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1589:Acadl
|
UTSW |
1 |
66,892,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2066:Acadl
|
UTSW |
1 |
66,880,905 (GRCm39) |
splice site |
probably null |
|
|
R3735:Acadl
|
UTSW |
1 |
66,892,448 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4646:Acadl
|
UTSW |
1 |
66,870,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5690:Acadl
|
UTSW |
1 |
66,892,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Acadl
|
UTSW |
1 |
66,877,522 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7686:Acadl
|
UTSW |
1 |
66,887,557 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7699:Acadl
|
UTSW |
1 |
66,877,522 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7700:Acadl
|
UTSW |
1 |
66,877,522 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8052:Acadl
|
UTSW |
1 |
66,892,337 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8389:Acadl
|
UTSW |
1 |
66,893,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Acadl
|
UTSW |
1 |
66,893,805 (GRCm39) |
missense |
probably benign |
|
|
R9457:Acadl
|
UTSW |
1 |
66,892,400 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACATTATAAACAGACCCAATGG -3'
(R):5'- TGTATGCCCTTTTATCGGAACC -3'
Sequencing Primer
(F):5'- TATAAACAGACCCAATGGAACTTTC -3'
(R):5'- ACACACACAGTTTCACTTTCG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation