Incidental Mutation 'R6482:Acadvl'
| ID |
517172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acadvl
|
| Ensembl Gene |
ENSMUSG00000018574 |
| Gene Name |
acyl-Coenzyme A dehydrogenase, very long chain |
| Synonyms |
VLCAD |
| MMRRC Submission |
044614-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.484)
|
| Stock # |
R6482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69901009-69906237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69902388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 415
(I415V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018718]
[ENSMUST00000019362]
[ENSMUST00000102574]
[ENSMUST00000102575]
[ENSMUST00000190940]
|
| AlphaFold |
P50544 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018718
AA Change: I415V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574
AA Change: I415V
| 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: I437V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574
AA Change: I437V
| 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: ENSMUST00000130820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145478
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000146129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152732
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
A |
G |
17: 32,564,370 (GRCm39) |
F6L |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,527,400 (GRCm39) |
N603Y |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm39) |
S116P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,825 (GRCm39) |
Q572L |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,070,980 (GRCm39) |
S20P |
probably damaging |
Het |
| Col22a1 |
G |
A |
15: 71,762,338 (GRCm39) |
P107L |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,705,369 (GRCm39) |
H248R |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,734,371 (GRCm39) |
K783I |
possibly damaging |
Het |
| Efnb2 |
A |
T |
8: 8,670,637 (GRCm39) |
V321E |
probably damaging |
Het |
| Eif1ad13 |
A |
G |
12: 87,762,565 (GRCm39) |
Y95C |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
| Gm35315 |
A |
T |
5: 110,225,955 (GRCm39) |
C495S |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,724 (GRCm39) |
Q335R |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,333,670 (GRCm39) |
L203P |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,624,614 (GRCm39) |
S735P |
probably damaging |
Het |
| Klrg1 |
G |
T |
6: 122,248,412 (GRCm39) |
C162* |
probably null |
Het |
| Mcc |
T |
C |
18: 44,578,931 (GRCm39) |
S651G |
possibly damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,027,896 (GRCm39) |
I15F |
probably damaging |
Het |
| Nppa |
G |
A |
4: 148,085,328 (GRCm39) |
V13I |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,253 (GRCm39) |
C373* |
probably null |
Het |
| Or8i2 |
G |
C |
2: 86,852,869 (GRCm39) |
F6L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,244 (GRCm39) |
N228D |
probably benign |
Het |
| Pgpep1l |
C |
T |
7: 67,888,815 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,622,778 (GRCm39) |
N673D |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,672 (GRCm39) |
S315P |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,388,664 (GRCm39) |
|
probably null |
Het |
| Rnf111 |
T |
C |
9: 70,336,889 (GRCm39) |
T925A |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,984,328 (GRCm39) |
F734L |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,177,434 (GRCm39) |
V746A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,314,243 (GRCm39) |
F119L |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,244 (GRCm39) |
M576T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,362,232 (GRCm39) |
V765E |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,093 (GRCm39) |
S140G |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,843 (GRCm39) |
S235P |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,649 (GRCm39) |
S504G |
probably benign |
Het |
| Wnt5b |
A |
T |
6: 119,410,573 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,376 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zfp948 |
A |
G |
17: 21,807,813 (GRCm39) |
H335R |
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 |
|
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'- TACCATACAGCCTTGCAGAGC -3'
(R):5'- CATGGACCAGGGATTCAAAGAC -3'
Sequencing Primer
(F):5'- AGTCGAAGAATGTCATTTGCCCC -3'
(R):5'- CCAGGGATTCAAAGACTTCCAGATAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation