Incidental Mutation 'R8556:Acadvl'
| ID |
660119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acadvl
|
| Ensembl Gene |
ENSMUSG00000018574 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, very long chain |
| Synonyms |
VLCAD |
| MMRRC Submission |
068519-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.484)
|
| Stock # |
R8556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69901009-69906237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69904376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 148
(M148K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018718]
[ENSMUST00000019362]
[ENSMUST00000102574]
[ENSMUST00000102575]
[ENSMUST00000108588]
[ENSMUST00000108589]
[ENSMUST00000123687]
[ENSMUST00000190940]
[ENSMUST00000231415]
[ENSMUST00000231506]
|
| AlphaFold |
P50544 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018718
AA Change: M148K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
AA Change: M148K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
74 |
188 |
4.4e-22 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
192 |
245 |
5.1e-20 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
306 |
455 |
6.7e-41 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
321 |
445 |
2.8e-12 |
PFAM |
|
Blast:HisKA
|
460 |
557 |
6e-10 |
BLAST |
|
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019362
|
| SMART Domains |
Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
Pfam:Dishevelled
|
103 |
263 |
1.5e-60 |
PFAM |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.1e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102574
AA Change: M170K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
AA Change: M170K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
96 |
210 |
2.5e-25 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
214 |
316 |
5.5e-25 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
328 |
477 |
2.5e-41 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
343 |
467 |
8.7e-14 |
PFAM |
|
Blast:HisKA
|
482 |
579 |
7e-10 |
BLAST |
|
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102575
|
| SMART Domains |
Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
Pfam:Dishevelled
|
160 |
232 |
8.1e-27 |
PFAM |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108588
|
| SMART Domains |
Protein: ENSMUSP00000104229
Gene: ENSMUSG00000020886
| Domain | Start | End | E-Value | Type |
|---|
|
MAGUK_N_PEST
|
10 |
61 |
1e-7 |
SMART |
|
PDZ
|
70 |
149 |
3.38e-21 |
SMART |
|
PDZ
|
165 |
244 |
1.12e-21 |
SMART |
|
PDZ
|
318 |
391 |
4.13e-25 |
SMART |
|
SH3
|
428 |
494 |
1.68e-9 |
SMART |
|
GuKc
|
530 |
709 |
3.65e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108589
|
| SMART Domains |
Protein: ENSMUSP00000104230
Gene: ENSMUSG00000020886
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
MAGUK_N_PEST
|
53 |
107 |
1.36e-4 |
SMART |
|
PDZ
|
116 |
195 |
3.38e-21 |
SMART |
|
PDZ
|
211 |
290 |
1.12e-21 |
SMART |
|
PDZ
|
364 |
437 |
4.13e-25 |
SMART |
|
SH3
|
474 |
540 |
1.68e-9 |
SMART |
|
GuKc
|
576 |
755 |
3.65e-68 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123687
|
| SMART Domains |
Protein: ENSMUSP00000134545
Gene: ENSMUSG00000020886
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
11 |
77 |
1.68e-9 |
SMART |
|
GuKc
|
113 |
205 |
7.37e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190940
|
| SMART Domains |
Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
| Domain | Start | End | E-Value | Type |
|---|
|
DAX
|
11 |
93 |
2.31e-56 |
SMART |
|
low complexity region
|
112 |
122 |
N/A |
INTRINSIC |
|
Pfam:Dishevelled
|
160 |
232 |
8.1e-27 |
PFAM |
|
low complexity region
|
250 |
262 |
N/A |
INTRINSIC |
|
PDZ
|
276 |
355 |
1.65e-15 |
SMART |
|
low complexity region
|
395 |
407 |
N/A |
INTRINSIC |
|
DEP
|
433 |
507 |
6.6e-29 |
SMART |
|
Pfam:Dsh_C
|
515 |
726 |
1.3e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231506
|
| Meta Mutation Damage Score |
0.0720 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: This gene encodes a homodimeric 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 C16- and C20-acylCoA and localizes to the inner mitochondrial membrane (unlike related acyl-CoA dehydrogenases). In mice, deficiency of this gene can cause ventricular arrhythmias as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutant animals exhibit mild steatosis, lipid accumulation in myocytes, increased fatigue, impaired temperature regulation, increased susceptibility to arrhythmia, accumulation of long-chain acylcarnitines, and lower free carnitine levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
T |
C |
13: 68,779,094 (GRCm39) |
Y982C |
possibly damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,216,302 (GRCm39) |
I495T |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,332,268 (GRCm39) |
I426K |
possibly damaging |
Het |
| Birc6 |
T |
G |
17: 74,864,949 (GRCm39) |
S236R |
probably benign |
Het |
| Cdan1 |
C |
T |
2: 120,553,471 (GRCm39) |
V971M |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,944,252 (GRCm39) |
F1074S |
probably damaging |
Het |
| Crk |
A |
G |
11: 75,583,347 (GRCm39) |
K189R |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,895,268 (GRCm39) |
L1254P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,289 (GRCm39) |
T658A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,212,457 (GRCm39) |
D1228G |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,113,198 (GRCm39) |
Y209C |
probably benign |
Het |
| Edem3 |
G |
A |
1: 151,660,586 (GRCm39) |
V283I |
possibly damaging |
Het |
| Elavl1 |
A |
G |
8: 4,345,388 (GRCm39) |
S202P |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,152,485 (GRCm39) |
|
probably null |
Het |
| Esp31 |
A |
T |
17: 38,951,942 (GRCm39) |
M1L |
probably benign |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Gm6370 |
T |
C |
5: 146,430,702 (GRCm39) |
S296P |
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,871,350 (GRCm39) |
V2754A |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,443,308 (GRCm39) |
|
probably null |
Het |
| Hoxb6 |
G |
T |
11: 96,191,543 (GRCm39) |
R155L |
probably damaging |
Het |
| Igkv6-17 |
T |
C |
6: 70,348,746 (GRCm39) |
V39A |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,375,787 (GRCm39) |
L1363F |
probably damaging |
Het |
| Lcor |
TCA |
T |
19: 41,546,863 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
G |
4: 123,382,136 (GRCm39) |
S476P |
probably damaging |
Het |
| Mdh1b |
A |
C |
1: 63,750,141 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
A |
9: 18,552,233 (GRCm39) |
I4687L |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,053,902 (GRCm39) |
M672V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,554,807 (GRCm39) |
F2614L |
probably benign |
Het |
| Or4p8 |
A |
T |
2: 88,727,382 (GRCm39) |
C186* |
probably null |
Het |
| Otop3 |
T |
A |
11: 115,235,782 (GRCm39) |
D471E |
probably benign |
Het |
| Pds5b |
G |
A |
5: 150,716,073 (GRCm39) |
M1077I |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,465,679 (GRCm39) |
L310Q |
probably benign |
Het |
| Ptpn13 |
G |
A |
5: 103,707,038 (GRCm39) |
E1416K |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,271,044 (GRCm39) |
L1228P |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,481 (GRCm39) |
D597G |
probably damaging |
Het |
| Ret |
A |
G |
6: 118,146,149 (GRCm39) |
F777L |
probably damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,831,045 (GRCm39) |
V374D |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,127,593 (GRCm39) |
|
probably null |
Het |
| Serpina1a |
T |
A |
12: 103,822,229 (GRCm39) |
K234N |
probably damaging |
Het |
| Snx20 |
T |
A |
8: 89,356,661 (GRCm39) |
M52L |
probably benign |
Het |
| Svs6 |
T |
C |
2: 164,159,485 (GRCm39) |
S83P |
possibly damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,527 (GRCm39) |
S29P |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,985 (GRCm39) |
N697S |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,952 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,178,291 (GRCm39) |
I453V |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,762,747 (GRCm39) |
F2407L |
probably benign |
Het |
| Tsc22d4 |
T |
C |
5: 137,745,849 (GRCm39) |
S158P |
probably damaging |
Het |
| Uaca |
A |
T |
9: 60,777,923 (GRCm39) |
K768M |
probably damaging |
Het |
| Wdr20rt |
G |
A |
12: 65,273,739 (GRCm39) |
V228I |
probably benign |
Het |
| Zbtb7b |
T |
C |
3: 89,300,444 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Acadvl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03391:Acadvl
|
APN |
11 |
69,901,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03396:Acadvl
|
APN |
11 |
69,902,239 (GRCm39) |
nonsense |
probably null |
|
|
R1122:Acadvl
|
UTSW |
11 |
69,902,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1271:Acadvl
|
UTSW |
11 |
69,905,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Acadvl
|
UTSW |
11 |
69,905,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1519:Acadvl
|
UTSW |
11 |
69,905,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1710:Acadvl
|
UTSW |
11 |
69,901,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Acadvl
|
UTSW |
11 |
69,901,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Acadvl
|
UTSW |
11 |
69,903,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Acadvl
|
UTSW |
11 |
69,902,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5700:Acadvl
|
UTSW |
11 |
69,904,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6312:Acadvl
|
UTSW |
11 |
69,902,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6482:Acadvl
|
UTSW |
11 |
69,902,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6489:Acadvl
|
UTSW |
11 |
69,901,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6904:Acadvl
|
UTSW |
11 |
69,905,159 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7009:Acadvl
|
UTSW |
11 |
69,905,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7623:Acadvl
|
UTSW |
11 |
69,901,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8103:Acadvl
|
UTSW |
11 |
69,905,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8439:Acadvl
|
UTSW |
11 |
69,902,554 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGCAGTTCCTTGTAACACCG -3'
(R):5'- TAGAGAAGCAGCCTACCTGG -3'
Sequencing Primer
(F):5'- CTTGTAACACCGTGAGCAGTGTC -3'
(R):5'- ATGGCCAGCCTCCCTGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation