Incidental Mutation 'R1264:Acadl'
ID |
151102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acadl
|
Ensembl Gene |
ENSMUSG00000026003 |
Gene Name |
acyl-Coenzyme A dehydrogenase, long-chain |
Synonyms |
C79855, LCAD |
MMRRC Submission |
039331-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1264 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
66869998-66902436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 66896712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 27
(C27S)
|
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: C27S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027153 Gene: ENSMUSG00000026003 AA Change: C27S
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158795
|
Meta Mutation Damage Score |
0.0606 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
Angpt2 |
T |
C |
8: 18,791,233 (GRCm39) |
N21S |
probably benign |
Het |
Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
Cndp2 |
C |
A |
18: 84,696,916 (GRCm39) |
C95F |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
Impg1 |
T |
C |
9: 80,221,675 (GRCm39) |
D715G |
probably benign |
Het |
Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
Pfkl |
T |
G |
10: 77,829,250 (GRCm39) |
K386T |
possibly damaging |
Het |
Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
Shisa6 |
T |
C |
11: 66,265,975 (GRCm39) |
|
probably benign |
Het |
Six3 |
T |
A |
17: 85,929,285 (GRCm39) |
D206E |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
probably benign |
Het |
Wbp11 |
A |
G |
6: 136,791,513 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTGGGCTAAGGCAGTACCTTTTC -3'
(R):5'- CTCCAACGGGCATTTTGATTGACAC -3'
Sequencing Primer
(F):5'- TGTTACATACGTTACAGCAGGG -3'
(R):5'- CACTGCAATGTTCAGTGACG -3'
|
Posted On |
2014-01-29 |