Incidental Mutation 'R2412:Acad9'
| ID |
250024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad9
|
| Ensembl Gene |
ENSMUSG00000027710 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 9 |
| Synonyms |
2600017P15Rik, NPD002, C630012L17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R2412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36120128-36147002 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36127740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 114
(Q114L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011492]
[ENSMUST00000196648]
[ENSMUST00000197588]
|
| AlphaFold |
Q8JZN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011492
AA Change: Q114L
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: Q114L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:Acyl-CoA_dh_N
|
69 |
177 |
1.2e-25 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
181 |
282 |
2e-27 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
294 |
445 |
9.6e-42 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
309 |
434 |
3.6e-12 |
PFAM |
|
Blast:HisKA
|
448 |
550 |
1e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196648
AA Change: Q114L
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142557
Gene: ENSMUSG00000027710
AA Change: Q114L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
20 |
N/A |
INTRINSIC |
|
Pfam:Acyl-CoA_dh_N
|
69 |
156 |
9.6e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197344
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197588
|
| SMART Domains |
Protein: ENSMUSP00000142995
Gene: ENSMUSG00000027710
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_1
|
16 |
155 |
1.9e-37 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
31 |
156 |
8.4e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198987
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
A |
G |
5: 89,849,630 (GRCm39) |
Y597H |
probably damaging |
Het |
| Bmi1 |
A |
G |
2: 18,688,525 (GRCm39) |
H172R |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,716,389 (GRCm39) |
Y400* |
probably null |
Het |
| Dennd5b |
T |
C |
6: 148,906,736 (GRCm39) |
T1062A |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,144,246 (GRCm39) |
D1065G |
probably benign |
Het |
| Ephb1 |
G |
A |
9: 101,879,015 (GRCm39) |
R492C |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,011,221 (GRCm39) |
H2107L |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,306,526 (GRCm39) |
V23A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,235,007 (GRCm39) |
N851D |
probably damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,796,673 (GRCm39) |
T322A |
probably benign |
Het |
| Ntpcr |
T |
C |
8: 126,472,144 (GRCm39) |
V151A |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,178 (GRCm39) |
I114V |
probably benign |
Het |
| Or9g3 |
C |
A |
2: 85,590,024 (GRCm39) |
G232V |
probably damaging |
Het |
| Pramel51 |
A |
G |
12: 88,143,880 (GRCm39) |
V311A |
probably damaging |
Het |
| Rps6ka4 |
A |
T |
19: 6,807,309 (GRCm39) |
*774K |
probably null |
Het |
| Slc12a5 |
T |
C |
2: 164,818,382 (GRCm39) |
|
probably null |
Het |
| Tmem219 |
T |
C |
7: 126,495,939 (GRCm39) |
S37G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,298,903 (GRCm39) |
N195S |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,412,425 (GRCm39) |
|
probably null |
Het |
| Zfp85 |
T |
C |
13: 67,897,765 (GRCm39) |
I102M |
probably damaging |
Het |
|
| Other mutations in Acad9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Acad9
|
APN |
3 |
36,123,911 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01161:Acad9
|
APN |
3 |
36,144,274 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02016:Acad9
|
APN |
3 |
36,142,635 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02100:Acad9
|
APN |
3 |
36,136,029 (GRCm39) |
missense |
probably null |
1.00 |
|
R0098:Acad9
|
UTSW |
3 |
36,127,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Acad9
|
UTSW |
3 |
36,127,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Acad9
|
UTSW |
3 |
36,139,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0499:Acad9
|
UTSW |
3 |
36,139,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Acad9
|
UTSW |
3 |
36,132,657 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1564:Acad9
|
UTSW |
3 |
36,143,578 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2013:Acad9
|
UTSW |
3 |
36,127,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2113:Acad9
|
UTSW |
3 |
36,128,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2428:Acad9
|
UTSW |
3 |
36,145,072 (GRCm39) |
missense |
probably benign |
|
|
R4214:Acad9
|
UTSW |
3 |
36,127,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4291:Acad9
|
UTSW |
3 |
36,120,337 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4562:Acad9
|
UTSW |
3 |
36,120,331 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4679:Acad9
|
UTSW |
3 |
36,142,989 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4758:Acad9
|
UTSW |
3 |
36,127,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Acad9
|
UTSW |
3 |
36,128,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Acad9
|
UTSW |
3 |
36,139,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Acad9
|
UTSW |
3 |
36,123,920 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5171:Acad9
|
UTSW |
3 |
36,128,547 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5956:Acad9
|
UTSW |
3 |
36,129,323 (GRCm39) |
unclassified |
probably benign |
|
|
R6285:Acad9
|
UTSW |
3 |
36,136,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6620:Acad9
|
UTSW |
3 |
36,120,294 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6880:Acad9
|
UTSW |
3 |
36,123,854 (GRCm39) |
splice site |
probably null |
|
|
R6995:Acad9
|
UTSW |
3 |
36,139,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7286:Acad9
|
UTSW |
3 |
36,130,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Acad9
|
UTSW |
3 |
36,142,974 (GRCm39) |
missense |
probably benign |
|
|
R7705:Acad9
|
UTSW |
3 |
36,142,675 (GRCm39) |
missense |
probably benign |
|
|
R8072:Acad9
|
UTSW |
3 |
36,129,404 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8166:Acad9
|
UTSW |
3 |
36,144,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8199:Acad9
|
UTSW |
3 |
36,139,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8815:Acad9
|
UTSW |
3 |
36,139,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8985:Acad9
|
UTSW |
3 |
36,141,860 (GRCm39) |
intron |
probably benign |
|
|
R9682:Acad9
|
UTSW |
3 |
36,136,268 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGGCTATACAAAACCCTTCTG -3'
(R):5'- ACCATCTGCTGTAGAAGGGAG -3'
Sequencing Primer
(F):5'- GGCTATACAAAACCCTTCTGTATAC -3'
(R):5'- AAGGGAGGCTATACTTCAGTATCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation