Incidental Mutation 'R4276:Acad8'
ID |
322704 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acad8
|
Ensembl Gene |
ENSMUSG00000031969 |
Gene Name |
acyl-Coenzyme A dehydrogenase family, member 8 |
Synonyms |
2310016C19Rik |
MMRRC Submission |
041647-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R4276 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
26885431-26910862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 26889745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 316
(Q316H)
|
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 null
Transcript: ENSMUST00000060513
AA Change: Q316H
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054370 Gene: ENSMUSG00000031969 AA Change: Q316H
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 null
Transcript: ENSMUST00000120367
AA Change: Q316H
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000112908 Gene: ENSMUSG00000031969 AA Change: Q316H
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (46/47) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Brix1 |
T |
C |
15: 10,481,833 (GRCm39) |
D101G |
possibly damaging |
Het |
Cfap36 |
A |
G |
11: 29,180,584 (GRCm39) |
|
probably null |
Het |
Chrnb3 |
A |
G |
8: 27,883,779 (GRCm39) |
N172S |
probably damaging |
Het |
Csnk1e |
T |
C |
15: 79,313,967 (GRCm39) |
N37S |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,298,007 (GRCm39) |
I705V |
probably benign |
Het |
Gimap8 |
T |
C |
6: 48,636,017 (GRCm39) |
M594T |
probably benign |
Het |
Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
Gpc6 |
A |
G |
14: 117,673,328 (GRCm39) |
D195G |
probably damaging |
Het |
Gpcpd1 |
T |
C |
2: 132,382,207 (GRCm39) |
K412E |
probably damaging |
Het |
Insm1 |
C |
A |
2: 146,064,888 (GRCm39) |
H235N |
probably benign |
Het |
Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
Kbtbd8 |
T |
C |
6: 95,103,914 (GRCm39) |
V521A |
probably damaging |
Het |
Kcna5 |
T |
C |
6: 126,510,329 (GRCm39) |
T600A |
probably damaging |
Het |
Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
Lbx1 |
C |
A |
19: 45,223,528 (GRCm39) |
V47L |
probably benign |
Het |
Mefv |
A |
T |
16: 3,533,433 (GRCm39) |
N279K |
probably benign |
Het |
Mroh1 |
T |
G |
15: 76,278,051 (GRCm39) |
V24G |
probably damaging |
Het |
Nt5c1b |
A |
G |
12: 10,424,886 (GRCm39) |
E142G |
probably damaging |
Het |
Or4f4b |
G |
T |
2: 111,313,849 (GRCm39) |
V25L |
probably damaging |
Het |
Or8u3-ps |
G |
A |
2: 85,952,623 (GRCm39) |
A119T |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,663,859 (GRCm39) |
E404G |
possibly damaging |
Het |
Pitpnb |
A |
G |
5: 111,519,258 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,177,883 (GRCm39) |
N1006S |
probably benign |
Het |
Proc |
A |
G |
18: 32,268,967 (GRCm39) |
V6A |
probably benign |
Het |
Prrc2c |
T |
A |
1: 162,501,160 (GRCm39) |
K1214N |
probably damaging |
Het |
Pstpip2 |
A |
G |
18: 77,949,556 (GRCm39) |
I122V |
probably benign |
Het |
Pus10 |
A |
G |
11: 23,656,895 (GRCm39) |
E207G |
probably damaging |
Het |
Rabl2 |
G |
A |
15: 89,468,391 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
Rtl6 |
T |
A |
15: 84,441,397 (GRCm39) |
|
probably benign |
Het |
Scn7a |
T |
G |
2: 66,514,407 (GRCm39) |
K1122N |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,912,640 (GRCm39) |
|
probably benign |
Het |
Spata13 |
C |
T |
14: 60,993,745 (GRCm39) |
R396C |
probably damaging |
Het |
Stmn4 |
A |
T |
14: 66,593,166 (GRCm39) |
|
probably benign |
Het |
Syp |
G |
T |
X: 7,504,931 (GRCm39) |
|
probably benign |
Het |
Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
Tnrc6b |
A |
G |
15: 80,786,172 (GRCm39) |
I1239V |
probably benign |
Het |
Ubr3 |
C |
T |
2: 69,768,731 (GRCm39) |
Q510* |
probably null |
Het |
Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
Vmn2r93 |
T |
C |
17: 18,525,092 (GRCm39) |
I250T |
possibly damaging |
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 |
R4023:Acad8
|
UTSW |
9 |
26,890,481 (GRCm39) |
missense |
probably benign |
0.02 |
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'- TGTCTCAGGAAGGCCAGAAG -3'
(R):5'- GCAGTAATACCAAGGCAAGC -3'
Sequencing Primer
(F):5'- TCTCAGGAAGGCCAGAAGACTTATC -3'
(R):5'- CATGTCACAGTGCCTATGTAGAG -3'
|
Posted On |
2015-06-20 |