Incidental Mutation 'R4109:Acads'
ID |
317204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acads
|
Ensembl Gene |
ENSMUSG00000029545 |
Gene Name |
acyl-Coenzyme A dehydrogenase, short chain |
Synonyms |
Bcd1, SCAD, Bcd-1, Hdlq8 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.361)
|
Stock # |
R4109 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
115248358-115257405 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 115248913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 302
(*302W)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031524]
|
AlphaFold |
Q07417 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031524
AA Change: *413W
|
SMART Domains |
Protein: ENSMUSP00000031524 Gene: ENSMUSG00000029545 AA Change: *413W
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
Pfam:Acyl-CoA_dh_N
|
35 |
147 |
1e-37 |
PFAM |
Pfam:Acyl-CoA_dh_M
|
151 |
246 |
6.1e-28 |
PFAM |
Pfam:Acyl-CoA_dh_1
|
258 |
407 |
3.6e-52 |
PFAM |
Pfam:Acyl-CoA_dh_2
|
273 |
396 |
6e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000100847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131726
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141142
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150291
AA Change: *302W
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153374
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201888
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.1%
|
Validation Efficiency |
|
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 at C(four)-CoA. In mice, deficiency of this gene has been linked to cold sensitivity and increased high-density lipoprotein levels. [provided by RefSeq, Nov 2012] PHENOTYPE: Mice homozygous for disruptions in this gene display organic aciduria and develop hypoglycemia and fatty livers after fasting. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
A |
T |
9: 124,057,733 (GRCm39) |
D59E |
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,539,626 (GRCm39) |
E185G |
probably benign |
Het |
Arhgap20 |
A |
G |
9: 51,727,985 (GRCm39) |
H66R |
possibly damaging |
Het |
Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
Atg2a |
A |
G |
19: 6,308,404 (GRCm39) |
T1646A |
possibly damaging |
Het |
Cd200r1 |
C |
G |
16: 44,610,447 (GRCm39) |
T185S |
possibly damaging |
Het |
Cnbd2 |
T |
C |
2: 156,177,318 (GRCm39) |
V92A |
probably damaging |
Het |
Col1a2 |
A |
T |
6: 4,510,705 (GRCm39) |
R52* |
probably null |
Het |
Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
Ifi206 |
T |
G |
1: 173,308,554 (GRCm39) |
T481P |
probably benign |
Het |
Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
Nos1ap |
A |
T |
1: 170,146,237 (GRCm39) |
M439K |
probably benign |
Het |
Paxbp1 |
T |
A |
16: 90,813,786 (GRCm39) |
T864S |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Satb1 |
A |
G |
17: 52,111,378 (GRCm39) |
V160A |
probably damaging |
Het |
Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
Setd1b |
TCCACCACCACCACCACCACCACCA |
TCCACCACCACCACCACCACCA |
5: 123,290,137 (GRCm39) |
|
probably benign |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc1a7 |
T |
C |
4: 107,825,858 (GRCm39) |
V39A |
probably benign |
Het |
Spire1 |
T |
C |
18: 67,630,287 (GRCm39) |
Q338R |
probably damaging |
Het |
Supt16 |
T |
C |
14: 52,400,188 (GRCm39) |
E985G |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,677,795 (GRCm39) |
K325E |
possibly damaging |
Het |
Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
Trav13-2 |
A |
C |
14: 53,872,698 (GRCm39) |
H58P |
probably benign |
Het |
Trbv13-2 |
A |
T |
6: 41,098,578 (GRCm39) |
Y51F |
probably benign |
Het |
Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
Zan |
G |
A |
5: 137,456,881 (GRCm39) |
T1285I |
unknown |
Het |
|
Other mutations in Acads |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02325:Acads
|
APN |
5 |
115,250,013 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02650:Acads
|
APN |
5 |
115,250,874 (GRCm39) |
missense |
probably benign |
0.17 |
Academia
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Acads
|
UTSW |
5 |
115,255,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R3110:Acads
|
UTSW |
5 |
115,255,757 (GRCm39) |
missense |
probably benign |
|
R3112:Acads
|
UTSW |
5 |
115,255,757 (GRCm39) |
missense |
probably benign |
|
R4595:Acads
|
UTSW |
5 |
115,251,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R4799:Acads
|
UTSW |
5 |
115,251,149 (GRCm39) |
missense |
probably benign |
0.41 |
R6841:Acads
|
UTSW |
5 |
115,250,417 (GRCm39) |
missense |
probably benign |
0.03 |
R6932:Acads
|
UTSW |
5 |
115,250,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7380:Acads
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Acads
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Acads
|
UTSW |
5 |
115,249,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Acads
|
UTSW |
5 |
115,250,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Acads
|
UTSW |
5 |
115,255,710 (GRCm39) |
missense |
probably benign |
0.08 |
R8071:Acads
|
UTSW |
5 |
115,251,226 (GRCm39) |
missense |
probably benign |
0.13 |
R9484:Acads
|
UTSW |
5 |
115,250,845 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Acads
|
UTSW |
5 |
115,249,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTGATTTCTTCTCGGTTGCAG -3'
(R):5'- GGGGCTTCTCTCTTAGTACCTG -3'
Sequencing Primer
(F):5'- TTGCAGGTCACAGCATCTG -3'
(R):5'- AGTACCTGTTTTCCCCTCTCAG -3'
|
Posted On |
2015-05-15 |