Incidental Mutation 'R8360:Acad8'
| ID |
652152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad8
|
| Ensembl Gene |
ENSMUSG00000031969 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 8 |
| Synonyms |
2310016C19Rik |
| MMRRC Submission |
067734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R8360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
26885431-26910862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26890352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 288
(A288T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060513]
[ENSMUST00000120367]
[ENSMUST00000128923]
[ENSMUST00000132293]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060513
AA Change: A288T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054370
Gene: ENSMUSG00000031969
AA Change: A288T
| 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 |
possibly damaging
Transcript: ENSMUST00000120367
AA Change: A288T
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112908
Gene: ENSMUSG00000031969
AA Change: A288T
| 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 |
probably benign
Transcript: ENSMUST00000132293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215693
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
96% (43/45) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
C |
T |
19: 21,655,888 (GRCm39) |
Q57* |
probably null |
Het |
| Adamtsl3 |
G |
A |
7: 82,197,187 (GRCm39) |
C711Y |
probably damaging |
Het |
| Ahcyl2 |
C |
A |
6: 29,768,869 (GRCm39) |
D111E |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,649,174 (GRCm39) |
F388L |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,981,271 (GRCm39) |
S697T |
probably damaging |
Het |
| Catspere2 |
G |
A |
1: 177,842,724 (GRCm39) |
V50M |
possibly damaging |
Het |
| Dgka |
C |
A |
10: 128,563,997 (GRCm39) |
V451F |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,962,705 (GRCm39) |
C617S |
unknown |
Het |
| Erich3 |
C |
A |
3: 154,469,991 (GRCm39) |
T1481K |
unknown |
Het |
| Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,874,059 (GRCm39) |
D396E |
probably benign |
Het |
| Hmgcs2 |
A |
T |
3: 98,204,724 (GRCm39) |
D294V |
possibly damaging |
Het |
| Hnf1a |
A |
G |
5: 115,091,391 (GRCm39) |
V434A |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,169,138 (GRCm39) |
L130P |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,449,767 (GRCm39) |
K672E |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,938 (GRCm39) |
S1345P |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,290,909 (GRCm39) |
D37E |
probably benign |
Het |
| Mlx |
G |
T |
11: 100,978,140 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,436,554 (GRCm39) |
H7878R |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,409,359 (GRCm39) |
E32* |
probably null |
Het |
| Nebl |
C |
T |
2: 17,465,298 (GRCm39) |
V18M |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,995 (GRCm39) |
R268Q |
possibly damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,440,229 (GRCm39) |
V602A |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,120,665 (GRCm39) |
P532S |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,139 (GRCm39) |
M285K |
probably benign |
Het |
| Or8g19 |
C |
T |
9: 39,055,761 (GRCm39) |
R122* |
probably null |
Het |
| Or8k53 |
T |
C |
2: 86,177,668 (GRCm39) |
I147M |
possibly damaging |
Het |
| Pfdn1 |
G |
A |
18: 36,584,214 (GRCm39) |
T40M |
probably benign |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Prss40 |
T |
A |
1: 34,599,876 (GRCm39) |
H37L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,374 (GRCm39) |
C808* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,270 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,017,232 (GRCm39) |
R232H |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,707 (GRCm39) |
F221L |
probably damaging |
Het |
| Sema7a |
T |
G |
9: 57,862,974 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
C |
A |
12: 104,104,962 (GRCm39) |
N379K |
probably benign |
Het |
| Ssbp4 |
A |
G |
8: 71,052,039 (GRCm39) |
L208P |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,688,003 (GRCm39) |
|
probably null |
Het |
| Tecrl |
A |
G |
5: 83,448,764 (GRCm39) |
Y160H |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,885,511 (GRCm39) |
I1773V |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,198,468 (GRCm39) |
T1511A |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,391,499 (GRCm39) |
N246S |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,991 (GRCm39) |
A4T |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,640 (GRCm39) |
I703N |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,398,974 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp334 |
A |
G |
2: 165,225,278 (GRCm39) |
I8T |
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 |
|
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 |
|
|
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 |
|
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'- AAGGTGGCACAGGTACATGC -3'
(R):5'- GGGTTTTCTCATCGCCATGAAAG -3'
Sequencing Primer
(F):5'- AAGATGGTAGCAAGTTCTTCACTGG -3'
(R):5'- TTCTCATCGCCATGAAAGGACTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation