Incidental Mutation 'R6904:Acadvl'
| ID |
538694 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acadvl
|
| Ensembl Gene |
ENSMUSG00000018574 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, very long chain |
| Synonyms |
VLCAD |
| MMRRC Submission |
045033-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.484)
|
| Stock # |
R6904 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
69901009-69906237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69905159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 109
(D109G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018718]
[ENSMUST00000019362]
[ENSMUST00000102574]
[ENSMUST00000102575]
[ENSMUST00000108588]
[ENSMUST00000108589]
[ENSMUST00000123687]
[ENSMUST00000134376]
[ENSMUST00000190940]
[ENSMUST00000231221]
[ENSMUST00000231415]
[ENSMUST00000231506]
[ENSMUST00000232002]
|
| AlphaFold |
P50544 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018718
AA Change: D109G
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
AA Change: D109G
| 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: D131G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
AA Change: D131G
| 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: ENSMUST00000134376
|
| SMART Domains |
Protein: ENSMUSP00000115206
Gene: ENSMUSG00000020886
| Domain | Start | End | E-Value | Type |
|---|
|
MAGUK_N_PEST
|
10 |
97 |
3.39e-37 |
SMART |
|
PDZ
|
106 |
165 |
1.79e-2 |
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: ENSMUST00000231221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231415
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232002
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,516 (GRCm39) |
Y406* |
probably null |
Het |
| Adam24 |
G |
A |
8: 41,134,542 (GRCm39) |
G670E |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,323,136 (GRCm39) |
M378V |
probably benign |
Het |
| Ankrd33 |
G |
A |
15: 101,014,993 (GRCm39) |
|
probably null |
Het |
| Apol7b |
G |
A |
15: 77,307,625 (GRCm39) |
T290I |
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,180 (GRCm39) |
W54R |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,663,069 (GRCm39) |
|
probably null |
Het |
| Bmp7 |
A |
G |
2: 172,714,706 (GRCm39) |
S368P |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,312,154 (GRCm39) |
V636A |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,259,002 (GRCm39) |
R1237H |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,980 (GRCm39) |
D697G |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,194 (GRCm39) |
T132A |
probably benign |
Het |
| Ces1b |
T |
A |
8: 93,787,038 (GRCm39) |
Y447F |
probably damaging |
Het |
| Cfhr4 |
T |
G |
1: 139,659,391 (GRCm39) |
N642H |
possibly damaging |
Het |
| Cntn4 |
A |
T |
6: 106,674,544 (GRCm39) |
T1015S |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,838,741 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,684,828 (GRCm39) |
N262K |
possibly damaging |
Het |
| Jmjd8 |
G |
A |
17: 26,048,026 (GRCm39) |
R41H |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,178,259 (GRCm39) |
T344S |
probably damaging |
Het |
| Krt39 |
T |
C |
11: 99,410,647 (GRCm39) |
D175G |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,227 (GRCm39) |
Y81C |
probably damaging |
Het |
| Mpdu1 |
T |
A |
11: 69,549,411 (GRCm39) |
T95S |
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,135 (GRCm39) |
I31N |
probably damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,700 (GRCm39) |
Y195* |
probably null |
Het |
| Or4c119 |
G |
A |
2: 88,987,157 (GRCm39) |
R121C |
possibly damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,652 (GRCm39) |
I45V |
probably benign |
Het |
| Or51v15-ps1 |
A |
T |
7: 103,278,790 (GRCm39) |
F126I |
probably benign |
Het |
| Or52z12 |
T |
A |
7: 103,233,727 (GRCm39) |
I166N |
possibly damaging |
Het |
| Or5w17 |
A |
G |
2: 87,584,223 (GRCm39) |
V38A |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,431 (GRCm39) |
I259F |
possibly damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,970 (GRCm39) |
D321E |
probably benign |
Het |
| Pi4kb |
G |
T |
3: 94,900,461 (GRCm39) |
R392L |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,767,291 (GRCm39) |
C180Y |
possibly damaging |
Het |
| Prss41 |
T |
C |
17: 24,056,622 (GRCm39) |
K151R |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,477 (GRCm39) |
V658D |
probably benign |
Het |
| Snx4 |
A |
G |
16: 33,115,108 (GRCm39) |
I430V |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,726,056 (GRCm39) |
H407Y |
possibly damaging |
Het |
| Tcf25 |
G |
A |
8: 124,127,437 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
T |
14: 76,743,923 (GRCm39) |
K24* |
probably null |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,323 (GRCm39) |
T319A |
probably benign |
Het |
| Zbtb1 |
C |
T |
12: 76,432,985 (GRCm39) |
R324* |
probably null |
Het |
| Zc3h7a |
A |
G |
16: 10,963,535 (GRCm39) |
Y729H |
probably damaging |
Het |
| Zfp329 |
C |
A |
7: 12,540,457 (GRCm39) |
|
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,514,384 (GRCm39) |
S441T |
probably benign |
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 |
|
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 |
|
|
R8556:Acadvl
|
UTSW |
11 |
69,904,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACACAGATCATGTTTCAGGGG -3'
(R):5'- TCTCAAAGAGCTGGTGGGAC -3'
Sequencing Primer
(F):5'- CAGGCAGGTAGACACTACTCTG -3'
(R):5'- ACCAGTGGCCCGGTTCTTTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation