Incidental Mutation 'IGL01983:Acadl'
| ID |
183516 |
| 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 # |
IGL01983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
66869998-66902436 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 66880783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 328
(Q328*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027153]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027153
AA Change: Q328*
|
| SMART Domains |
Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: Q328*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139208
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,483,753 (GRCm39) |
Y85C |
probably damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,422,127 (GRCm39) |
R1313Q |
probably damaging |
Het |
| Chrnb1 |
G |
T |
11: 69,686,555 (GRCm39) |
R22S |
probably benign |
Het |
| Clec7a |
G |
A |
6: 129,442,539 (GRCm39) |
|
probably benign |
Het |
| Cyrib |
A |
G |
15: 63,809,236 (GRCm39) |
S251P |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,506,814 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
T |
A |
17: 78,800,282 (GRCm39) |
D424E |
probably benign |
Het |
| Hydin |
A |
C |
8: 111,241,527 (GRCm39) |
I2106L |
probably benign |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,670 (GRCm39) |
D50E |
probably benign |
Het |
| Irf2bp1 |
G |
T |
7: 18,739,220 (GRCm39) |
A287S |
possibly damaging |
Het |
| Ldb3 |
G |
A |
14: 34,299,156 (GRCm39) |
S156L |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,751,440 (GRCm39) |
W942R |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,794,475 (GRCm39) |
V1218D |
probably damaging |
Het |
| Naxd |
G |
T |
8: 11,560,218 (GRCm39) |
|
probably benign |
Het |
| Nol9 |
T |
C |
4: 152,130,494 (GRCm39) |
|
probably null |
Het |
| Nus1 |
T |
A |
10: 52,312,753 (GRCm39) |
L295Q |
probably damaging |
Het |
| Nxph2 |
A |
G |
2: 23,289,946 (GRCm39) |
I99M |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,895,904 (GRCm39) |
I432N |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,240,974 (GRCm39) |
L69S |
probably damaging |
Het |
| Pram1 |
C |
A |
17: 33,859,835 (GRCm39) |
A134D |
probably damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,081,317 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
A |
T |
11: 32,539,460 (GRCm39) |
E280V |
probably benign |
Het |
| Tbc1d10c |
T |
A |
19: 4,240,708 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,691,349 (GRCm39) |
V500I |
probably benign |
Het |
| Trim66 |
G |
A |
7: 109,057,458 (GRCm39) |
R992* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,827,687 (GRCm39) |
D728G |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,971,608 (GRCm39) |
D696G |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,545,525 (GRCm39) |
V1707I |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,527 (GRCm39) |
H368L |
probably damaging |
Het |
| Xrn1 |
T |
C |
9: 95,855,421 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
A |
8: 109,673,866 (GRCm39) |
L1639M |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,898,270 (GRCm39) |
V218E |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation