Incidental Mutation 'R4023:Acad8'
| ID |
313350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad8
|
| Ensembl Gene |
ENSMUSG00000031969 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 8 |
| Synonyms |
2310016C19Rik |
| MMRRC Submission |
040957-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R4023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
26885431-26910862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26890481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 276
(I276V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060513]
[ENSMUST00000120367]
[ENSMUST00000128923]
[ENSMUST00000132293]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060513
AA Change: I276V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000054370
Gene: ENSMUSG00000031969
AA Change: I276V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
40 |
151 |
1e-28 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
155 |
207 |
1.8e-23 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
261 |
411 |
2.9e-47 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
276 |
399 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120367
AA Change: I276V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112908
Gene: ENSMUSG00000031969
AA Change: I276V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
40 |
151 |
7.8e-29 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
155 |
249 |
3.7e-28 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
261 |
411 |
5.7e-45 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
276 |
400 |
2.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132293
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215693
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cold intolerance at young age with a progressive hepatic steatosis and abnormal mitochondria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
CGGG |
CGGGGGG |
15: 76,833,863 (GRCm39) |
|
probably benign |
Het |
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Akap9 |
C |
T |
5: 4,042,077 (GRCm39) |
T1370I |
possibly damaging |
Het |
| Akna |
C |
G |
4: 63,292,627 (GRCm39) |
G1094A |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,568,942 (GRCm39) |
Y871* |
probably null |
Het |
| Clcn4 |
T |
G |
7: 7,293,427 (GRCm39) |
Y443S |
probably damaging |
Het |
| Clcn6 |
T |
A |
4: 148,098,740 (GRCm39) |
T463S |
possibly damaging |
Het |
| Colec10 |
A |
G |
15: 54,325,947 (GRCm39) |
D259G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Depdc1a |
G |
A |
3: 159,221,786 (GRCm39) |
|
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,451,634 (GRCm39) |
I1591T |
possibly damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,143 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
C |
A |
7: 71,739,987 (GRCm39) |
C801F |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,833,266 (GRCm39) |
K318* |
probably null |
Het |
| Or8c17 |
G |
A |
9: 38,180,757 (GRCm39) |
C308Y |
possibly damaging |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,011,099 (GRCm39) |
Y2389N |
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Siglecf |
T |
A |
7: 43,004,995 (GRCm39) |
S408R |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,765,752 (GRCm39) |
C279* |
probably null |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,634,554 (GRCm39) |
D751G |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,588,727 (GRCm39) |
T28A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,193,136 (GRCm39) |
Y47H |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,843,718 (GRCm39) |
D42V |
possibly damaging |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
| Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
probably benign |
Het |
|
| Other mutations in Acad8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Acad8
|
APN |
9 |
26,901,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01721:Acad8
|
APN |
9 |
26,903,563 (GRCm39) |
splice site |
probably benign |
|
|
R1473:Acad8
|
UTSW |
9 |
26,890,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2102:Acad8
|
UTSW |
9 |
26,896,861 (GRCm39) |
nonsense |
probably null |
|
|
R3030:Acad8
|
UTSW |
9 |
26,890,355 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4276:Acad8
|
UTSW |
9 |
26,889,745 (GRCm39) |
missense |
probably null |
0.47 |
|
R4667:Acad8
|
UTSW |
9 |
26,901,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Acad8
|
UTSW |
9 |
26,901,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Acad8
|
UTSW |
9 |
26,901,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Acad8
|
UTSW |
9 |
26,889,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Acad8
|
UTSW |
9 |
26,896,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5486:Acad8
|
UTSW |
9 |
26,910,791 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5549:Acad8
|
UTSW |
9 |
26,896,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5887:Acad8
|
UTSW |
9 |
26,890,620 (GRCm39) |
splice site |
probably null |
|
|
R5943:Acad8
|
UTSW |
9 |
26,910,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Acad8
|
UTSW |
9 |
26,889,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Acad8
|
UTSW |
9 |
26,888,967 (GRCm39) |
splice site |
probably null |
|
|
R7226:Acad8
|
UTSW |
9 |
26,889,726 (GRCm39) |
nonsense |
probably null |
|
|
R7561:Acad8
|
UTSW |
9 |
26,890,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7812:Acad8
|
UTSW |
9 |
26,890,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8360:Acad8
|
UTSW |
9 |
26,890,352 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8752:Acad8
|
UTSW |
9 |
26,896,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Acad8
|
UTSW |
9 |
26,890,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:Acad8
|
UTSW |
9 |
26,910,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Acad8
|
UTSW |
9 |
26,888,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Acad8
|
UTSW |
9 |
26,887,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGTGCAGATCCTAGGTAAC -3'
(R):5'- TGCTTGGGGAATCATAGGGC -3'
Sequencing Primer
(F):5'- AAGGTGCTCCAAACTGCTTG -3'
(R):5'- CAGCCATCAAGACCCTGATTTTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation