Incidental Mutation 'R1435:Acadvl'
ID |
159468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acadvl
|
Ensembl Gene |
ENSMUSG00000018574 |
Gene Name |
acyl-Coenzyme A dehydrogenase, very long chain |
Synonyms |
VLCAD |
MMRRC Submission |
039490-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.484)
|
Stock # |
R1435 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69901009-69906237 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 69905642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 62
(T62P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099634
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018718]
[ENSMUST00000019362]
[ENSMUST00000102574]
[ENSMUST00000102575]
[ENSMUST00000133140]
[ENSMUST00000231221]
[ENSMUST00000134376]
[ENSMUST00000108588]
[ENSMUST00000123687]
[ENSMUST00000108589]
[ENSMUST00000190940]
[ENSMUST00000231506]
[ENSMUST00000231415]
[ENSMUST00000232002]
|
AlphaFold |
P50544 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018718
|
SMART Domains |
Protein: ENSMUSP00000018718 Gene: ENSMUSG00000018574
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 |
noncoding transcript
Transcript: ENSMUST00000083600
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102574
AA Change: T62P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099634 Gene: ENSMUSG00000018574 AA Change: T62P
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 |
noncoding transcript
Transcript: ENSMUST00000108586
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137187
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145478
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146129
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133140
|
SMART Domains |
Protein: ENSMUSP00000126707 Gene: ENSMUSG00000020886
Domain | Start | End | E-Value | Type |
PDZ
|
13 |
92 |
3.38e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231221
|
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: 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: 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: 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: 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: ENSMUST00000231506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231415
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232002
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.0%
- 20x: 81.3%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amz1 |
A |
T |
5: 140,733,921 (GRCm39) |
N166Y |
probably damaging |
Het |
Anxa6 |
T |
C |
11: 54,882,236 (GRCm39) |
Q518R |
probably benign |
Het |
Aox3 |
G |
A |
1: 58,202,605 (GRCm39) |
|
probably null |
Het |
Arid1a |
C |
T |
4: 133,408,009 (GRCm39) |
R2166Q |
unknown |
Het |
Asb4 |
T |
G |
6: 5,398,410 (GRCm39) |
I125S |
probably benign |
Het |
Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
Atxn3 |
A |
G |
12: 101,908,460 (GRCm39) |
F131L |
probably benign |
Het |
B3gnt5 |
T |
A |
16: 19,587,924 (GRCm39) |
Y48N |
probably damaging |
Het |
Bglap3 |
A |
G |
3: 88,276,453 (GRCm39) |
M35T |
possibly damaging |
Het |
Cabp1 |
A |
T |
5: 115,311,267 (GRCm39) |
D79E |
probably damaging |
Het |
Cemip2 |
A |
T |
19: 21,822,070 (GRCm39) |
Q1155L |
probably benign |
Het |
Chd2 |
C |
T |
7: 73,102,884 (GRCm39) |
R1367Q |
probably damaging |
Het |
Clec5a |
T |
A |
6: 40,561,358 (GRCm39) |
Q29L |
probably damaging |
Het |
Cmtr2 |
T |
C |
8: 110,947,711 (GRCm39) |
L7P |
probably benign |
Het |
Cnbd1 |
T |
C |
4: 18,907,026 (GRCm39) |
I183V |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,792,341 (GRCm39) |
G1297D |
unknown |
Het |
Csnk1g3 |
G |
A |
18: 54,039,746 (GRCm39) |
|
probably null |
Het |
Cyp4a32 |
A |
T |
4: 115,463,863 (GRCm39) |
N134I |
probably damaging |
Het |
Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
Dst |
G |
A |
1: 34,153,026 (GRCm39) |
V56M |
probably damaging |
Het |
Engase |
A |
T |
11: 118,375,727 (GRCm39) |
T32S |
probably damaging |
Het |
Fam117b |
T |
C |
1: 60,008,222 (GRCm39) |
I352T |
possibly damaging |
Het |
Golga4 |
C |
A |
9: 118,364,508 (GRCm39) |
D290E |
probably benign |
Het |
Gtf2a1l |
C |
A |
17: 89,001,743 (GRCm39) |
H153N |
probably damaging |
Het |
Hivep1 |
C |
A |
13: 42,311,519 (GRCm39) |
T1253N |
probably damaging |
Het |
Hps1 |
T |
C |
19: 42,750,714 (GRCm39) |
S398G |
probably benign |
Het |
Il1r2 |
T |
A |
1: 40,144,459 (GRCm39) |
F49I |
probably damaging |
Het |
Iqsec1 |
A |
G |
6: 90,649,006 (GRCm39) |
S808P |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,922,776 (GRCm39) |
L289P |
probably damaging |
Het |
Magi2 |
T |
A |
5: 20,563,943 (GRCm39) |
D358E |
probably damaging |
Het |
Man2b2 |
A |
G |
5: 36,970,411 (GRCm39) |
W832R |
probably damaging |
Het |
Mfsd4a |
G |
T |
1: 131,995,494 (GRCm39) |
T46K |
probably damaging |
Het |
N4bp3 |
G |
A |
11: 51,535,167 (GRCm39) |
R341W |
probably damaging |
Het |
Odad2 |
T |
A |
18: 7,222,646 (GRCm39) |
H541L |
probably benign |
Het |
Or51f2 |
T |
C |
7: 102,526,974 (GRCm39) |
S216P |
probably damaging |
Het |
Or8s5 |
A |
T |
15: 98,238,209 (GRCm39) |
H220Q |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,536,039 (GRCm39) |
L1353S |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,541,246 (GRCm39) |
C844* |
probably null |
Het |
Pdk2 |
T |
C |
11: 94,922,721 (GRCm39) |
Y153C |
probably damaging |
Het |
Pes1 |
T |
C |
11: 3,926,075 (GRCm39) |
V292A |
probably benign |
Het |
Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
Pnpla2 |
G |
A |
7: 141,037,324 (GRCm39) |
R109H |
probably benign |
Het |
Polh |
G |
A |
17: 46,505,181 (GRCm39) |
T145I |
probably damaging |
Het |
Polr3d |
A |
T |
14: 70,677,479 (GRCm39) |
V299E |
probably benign |
Het |
Polr3e |
C |
T |
7: 120,540,011 (GRCm39) |
T586M |
probably benign |
Het |
Rbm20 |
T |
A |
19: 53,802,588 (GRCm39) |
F365L |
probably benign |
Het |
Resf1 |
A |
G |
6: 149,227,580 (GRCm39) |
T209A |
probably benign |
Het |
Rnf213 |
G |
T |
11: 119,326,831 (GRCm39) |
C1606F |
probably damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,195,464 (GRCm39) |
V758A |
probably damaging |
Het |
Slc22a16 |
T |
A |
10: 40,463,603 (GRCm39) |
M451K |
probably damaging |
Het |
Slc28a1 |
T |
C |
7: 80,803,265 (GRCm39) |
S359P |
probably damaging |
Het |
Slc45a1 |
G |
T |
4: 150,728,505 (GRCm39) |
F99L |
probably damaging |
Het |
Sp3 |
A |
T |
2: 72,768,500 (GRCm39) |
N754K |
possibly damaging |
Het |
Taf4b |
A |
T |
18: 14,940,466 (GRCm39) |
Q315L |
probably damaging |
Het |
Tcstv2a |
T |
A |
13: 120,725,524 (GRCm39) |
W63R |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,818,342 (GRCm39) |
N544K |
probably benign |
Het |
Tnfsf13b |
A |
G |
8: 10,085,358 (GRCm39) |
I283V |
probably benign |
Het |
Tnfsf14 |
T |
A |
17: 57,497,605 (GRCm39) |
E209V |
possibly damaging |
Het |
Uckl1 |
T |
G |
2: 181,214,926 (GRCm39) |
S283R |
probably benign |
Het |
Ush1g |
T |
C |
11: 115,209,294 (GRCm39) |
D300G |
probably damaging |
Het |
Virma |
C |
T |
4: 11,528,621 (GRCm39) |
A1286V |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r59 |
A |
T |
7: 41,695,629 (GRCm39) |
M261K |
possibly damaging |
Het |
Vwf |
A |
T |
6: 125,619,212 (GRCm39) |
K1297* |
probably null |
Het |
Zdbf2 |
G |
A |
1: 63,342,199 (GRCm39) |
E193K |
possibly damaging |
Het |
Zfp759 |
T |
G |
13: 67,286,830 (GRCm39) |
I127S |
possibly damaging |
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 |
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 |
|
R8556:Acadvl
|
UTSW |
11 |
69,904,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCAGCTCTTTGAGAAATTGTGCC -3'
(R):5'- AGAAATGCGAGTTGCCAGTTCCC -3'
Sequencing Primer
(F):5'- AGCCTTTACTTACCAGATGGG -3'
(R):5'- GCAGTTCTGTCACTGAAAGTAG -3'
|
Posted On |
2014-03-14 |