Incidental Mutation 'IGL03002:Acadl'
ID |
407398 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acadl
|
Ensembl Gene |
ENSMUSG00000026003 |
Gene Name |
acyl-Coenzyme A dehydrogenase, long-chain |
Synonyms |
C79855, LCAD |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03002
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
66869998-66902436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66876128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 398
(I398V)
|
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: I398V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000027153 Gene: ENSMUSG00000026003 AA Change: I398V
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 |
|
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 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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
A |
T |
14: 56,011,013 (GRCm39) |
C635S |
probably benign |
Het |
Aoc1l3 |
A |
G |
6: 48,964,052 (GRCm39) |
H20R |
probably benign |
Het |
Asic4 |
C |
A |
1: 75,427,967 (GRCm39) |
D164E |
possibly damaging |
Het |
C8g |
T |
A |
2: 25,388,823 (GRCm39) |
*203L |
probably null |
Het |
Cad |
T |
C |
5: 31,212,330 (GRCm39) |
V11A |
probably benign |
Het |
Cckar |
T |
C |
5: 53,860,247 (GRCm39) |
N194S |
probably damaging |
Het |
Cdc123 |
T |
C |
2: 5,803,166 (GRCm39) |
|
probably benign |
Het |
Chrm5 |
T |
C |
2: 112,310,706 (GRCm39) |
T137A |
probably damaging |
Het |
Cyp1a1 |
A |
G |
9: 57,609,724 (GRCm39) |
|
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,026,437 (GRCm39) |
E187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,474 (GRCm39) |
E80G |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,461,279 (GRCm39) |
N189K |
probably damaging |
Het |
Gfral |
A |
G |
9: 76,104,520 (GRCm39) |
V164A |
possibly damaging |
Het |
Hk1 |
A |
T |
10: 62,107,578 (GRCm39) |
V799E |
probably damaging |
Het |
Iars2 |
C |
T |
1: 185,055,013 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,425,505 (GRCm39) |
D708E |
probably damaging |
Het |
Mbtd1 |
T |
A |
11: 93,815,316 (GRCm39) |
H301Q |
probably benign |
Het |
Med12 |
A |
G |
X: 100,339,461 (GRCm39) |
T2004A |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,798,356 (GRCm39) |
I739T |
possibly damaging |
Het |
Mthfsd |
C |
T |
8: 121,835,018 (GRCm39) |
|
probably benign |
Het |
Mybpc3 |
T |
G |
2: 90,954,234 (GRCm39) |
F369C |
probably damaging |
Het |
Nfatc2 |
C |
T |
2: 168,376,904 (GRCm39) |
V329M |
probably damaging |
Het |
Ngef |
A |
T |
1: 87,437,114 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
C |
11: 71,059,685 (GRCm39) |
E759G |
probably benign |
Het |
Or10aa3 |
C |
A |
1: 173,878,191 (GRCm39) |
T84N |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,729,016 (GRCm39) |
E790G |
probably benign |
Het |
Psmd12 |
A |
G |
11: 107,376,607 (GRCm39) |
D81G |
probably benign |
Het |
Rnf144b |
A |
G |
13: 47,396,359 (GRCm39) |
H232R |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,686,905 (GRCm39) |
T475M |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,102 (GRCm39) |
N204I |
probably benign |
Het |
Socs1 |
T |
C |
16: 10,602,404 (GRCm39) |
N111S |
probably damaging |
Het |
Srpra |
A |
G |
9: 35,126,017 (GRCm39) |
N432D |
probably damaging |
Het |
Srrm2 |
A |
G |
17: 24,034,708 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
A |
G |
6: 72,593,055 (GRCm39) |
S142P |
possibly damaging |
Het |
Trbv13-1 |
A |
G |
6: 41,093,169 (GRCm39) |
N34S |
probably benign |
Het |
Vmn2r26 |
T |
C |
6: 124,016,754 (GRCm39) |
V406A |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,088 (GRCm39) |
G79V |
probably damaging |
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 |
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 |
R7858:Acadl
|
UTSW |
1 |
66,877,483 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
|
Posted On |
2016-08-02 |