Incidental Mutation 'R5486:Acad8'
ID |
430370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acad8
|
Ensembl Gene |
ENSMUSG00000031969 |
Gene Name |
acyl-Coenzyme A dehydrogenase family, member 8 |
Synonyms |
2310016C19Rik |
MMRRC Submission |
043047-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R5486 (G1)
|
Quality Score |
99 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
26885431-26910862 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to T
at 26910791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039161]
[ENSMUST00000060513]
[ENSMUST00000120367]
[ENSMUST00000128923]
[ENSMUST00000132293]
[ENSMUST00000213770]
[ENSMUST00000213683]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039161
|
SMART Domains |
Protein: ENSMUSP00000037614 Gene: ENSMUSG00000035443
Domain | Start | End | E-Value | Type |
Pfam:EVE
|
56 |
220 |
3.7e-57 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000060513
AA Change: M1K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000054370 Gene: ENSMUSG00000031969 AA Change: M1K
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: M1K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112908 Gene: ENSMUSG00000031969 AA Change: M1K
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 null
Transcript: ENSMUST00000128923
AA Change: M1K
|
Predicted Effect |
probably null
Transcript: ENSMUST00000132293
AA Change: M1K
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138102
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215693
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214910
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217143
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
probably null |
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 |
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 |
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'- TGAAGTGAGTCCGTCAAGGG -3'
(R):5'- TTAGTAGAAGACGCGTCTCAGAG -3'
Sequencing Primer
(F):5'- GAGAGCCACCAAAGCGCTG -3'
(R):5'- GACTACAACTCCCAGAGT -3'
|
Posted On |
2016-10-05 |