Incidental Mutation 'R5549:Acad8'
ID |
435044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acad8
|
Ensembl Gene |
ENSMUSG00000031969 |
Gene Name |
acyl-Coenzyme A dehydrogenase family, member 8 |
Synonyms |
2310016C19Rik |
MMRRC Submission |
043106-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R5549 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
26885431-26910862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26896847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 204
(R204Q)
|
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 damaging
Transcript: ENSMUST00000060513
AA Change: R204Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054370 Gene: ENSMUSG00000031969 AA Change: R204Q
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 damaging
Transcript: ENSMUST00000120367
AA Change: R204Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112908 Gene: ENSMUSG00000031969 AA Change: R204Q
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 |
probably benign
Transcript: ENSMUST00000215693
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,384,993 (GRCm39) |
E324G |
possibly damaging |
Het |
Adgrg7 |
T |
G |
16: 56,570,790 (GRCm39) |
T413P |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,617,117 (GRCm39) |
I2224T |
probably benign |
Het |
Arhgap23 |
A |
G |
11: 97,357,394 (GRCm39) |
D964G |
probably damaging |
Het |
Atf6b |
A |
G |
17: 34,870,657 (GRCm39) |
D367G |
probably damaging |
Het |
Axdnd1 |
A |
G |
1: 156,226,104 (GRCm39) |
L131P |
probably damaging |
Het |
Bmp8b |
T |
C |
4: 123,018,278 (GRCm39) |
V383A |
probably damaging |
Het |
C5ar2 |
A |
G |
7: 15,970,868 (GRCm39) |
V353A |
probably damaging |
Het |
Ccr5 |
C |
A |
9: 123,925,408 (GRCm39) |
A337E |
probably benign |
Het |
Cftr |
G |
A |
6: 18,227,953 (GRCm39) |
V382I |
probably benign |
Het |
Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
Cyp2d12 |
A |
G |
15: 82,440,498 (GRCm39) |
T96A |
probably benign |
Het |
Diaph3 |
T |
G |
14: 87,216,106 (GRCm39) |
I465L |
probably benign |
Het |
Fabp3 |
A |
G |
4: 130,209,018 (GRCm39) |
*134W |
probably null |
Het |
Fgf22 |
G |
T |
10: 79,592,696 (GRCm39) |
M130I |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,453,690 (GRCm39) |
V1792M |
probably damaging |
Het |
Grik3 |
G |
A |
4: 125,579,838 (GRCm39) |
A528T |
possibly damaging |
Het |
Hecw2 |
G |
A |
1: 53,964,850 (GRCm39) |
R659W |
possibly damaging |
Het |
Hmbs |
C |
T |
9: 44,250,774 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
G |
6: 115,868,983 (GRCm39) |
L490R |
probably damaging |
Het |
Igkv4-63 |
T |
C |
6: 69,355,116 (GRCm39) |
H55R |
probably damaging |
Het |
Itga4 |
A |
T |
2: 79,086,611 (GRCm39) |
N96I |
probably damaging |
Het |
Kcna7 |
A |
T |
7: 45,056,063 (GRCm39) |
H93L |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,271,562 (GRCm39) |
I815V |
probably benign |
Het |
Lcmt1 |
G |
A |
7: 123,027,330 (GRCm39) |
E298K |
probably damaging |
Het |
Ly6g6f |
A |
G |
17: 35,302,333 (GRCm39) |
V68A |
possibly damaging |
Het |
Map3k8 |
C |
T |
18: 4,340,762 (GRCm39) |
C184Y |
probably damaging |
Het |
Mcemp1 |
A |
G |
8: 3,718,340 (GRCm39) |
T183A |
possibly damaging |
Het |
Mobp |
T |
G |
9: 119,996,876 (GRCm39) |
S2R |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,651,644 (GRCm39) |
S1783G |
probably benign |
Het |
Mterf3 |
C |
A |
13: 67,076,321 (GRCm39) |
A129S |
probably benign |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Nr2c1 |
A |
G |
10: 94,003,558 (GRCm39) |
T239A |
probably benign |
Het |
Odr4 |
A |
G |
1: 150,247,909 (GRCm39) |
S325P |
possibly damaging |
Het |
Oplah |
G |
A |
15: 76,182,466 (GRCm39) |
A963V |
probably damaging |
Het |
Or13a26 |
A |
G |
7: 140,284,712 (GRCm39) |
|
probably null |
Het |
Parp14 |
C |
T |
16: 35,661,505 (GRCm39) |
S1481N |
probably benign |
Het |
Prxl2a |
T |
C |
14: 40,726,013 (GRCm39) |
K44E |
possibly damaging |
Het |
Rictor |
C |
T |
15: 6,816,391 (GRCm39) |
T1221M |
probably damaging |
Het |
Rpe |
G |
A |
1: 66,755,163 (GRCm39) |
D182N |
probably damaging |
Het |
Slc24a3 |
C |
A |
2: 145,448,784 (GRCm39) |
P443T |
probably damaging |
Het |
Slc25a47 |
T |
C |
12: 108,822,143 (GRCm39) |
*311Q |
probably null |
Het |
Sox2 |
C |
G |
3: 34,705,142 (GRCm39) |
A193G |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,057,954 (GRCm39) |
S3284G |
probably benign |
Het |
Zfp369 |
A |
T |
13: 65,445,194 (GRCm39) |
H779L |
probably damaging |
Het |
Zfp513 |
A |
T |
5: 31,357,947 (GRCm39) |
L144Q |
possibly damaging |
Het |
Zfp526 |
T |
C |
7: 24,925,109 (GRCm39) |
F456S |
possibly damaging |
Het |
Zfp791 |
C |
T |
8: 85,836,835 (GRCm39) |
G343D |
probably damaging |
Het |
Zfp941 |
A |
C |
7: 140,388,021 (GRCm39) |
I664S |
possibly damaging |
Het |
Zkscan3 |
A |
G |
13: 21,578,233 (GRCm39) |
V189A |
probably 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 |
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 |
|
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'- TAGCAGTGACTTCTGTTTTGCTAC -3'
(R):5'- AGAGCAAGTGCCCTTTACCC -3'
Sequencing Primer
(F):5'- AGTGACTTCTGTTTTGCTACATACC -3'
(R):5'- ACCCCACCTTCTGCATTACG -3'
|
Posted On |
2016-10-24 |