Incidental Mutation 'R7705:Acad9'
| ID |
594218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad9
|
| Ensembl Gene |
ENSMUSG00000027710 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 9 |
| Synonyms |
2600017P15Rik, NPD002, C630012L17Rik |
| MMRRC Submission |
045766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R7705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36120128-36147002 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36142675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 470
(T470M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000011492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011492]
[ENSMUST00000197588]
|
| AlphaFold |
Q8JZN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011492
AA Change: T470M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: T470M
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
G |
A |
3: 59,784,168 (GRCm39) |
A214T |
probably benign |
Het |
| Abcb9 |
G |
T |
5: 124,220,018 (GRCm39) |
Y342* |
probably null |
Het |
| Ankmy2 |
A |
G |
12: 36,245,107 (GRCm39) |
E379G |
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,048,343 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
G |
4: 83,476,193 (GRCm39) |
T203A |
possibly damaging |
Het |
| Cpeb4 |
A |
G |
11: 31,822,327 (GRCm39) |
T14A |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,211,736 (GRCm39) |
F359V |
probably damaging |
Het |
| Crtap |
A |
T |
9: 114,210,747 (GRCm39) |
C276S |
probably damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,168,774 (GRCm39) |
I794V |
probably benign |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cux2 |
T |
A |
5: 122,007,736 (GRCm39) |
M642L |
probably benign |
Het |
| Dpep1 |
T |
C |
8: 123,927,460 (GRCm39) |
V338A |
possibly damaging |
Het |
| Dytn |
A |
G |
1: 63,717,948 (GRCm39) |
L29P |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,169,306 (GRCm39) |
R116C |
probably benign |
Het |
| Edc3 |
T |
C |
9: 57,647,197 (GRCm39) |
V282A |
probably benign |
Het |
| Epha1 |
A |
G |
6: 42,339,602 (GRCm39) |
V630A |
probably damaging |
Het |
| Erc1 |
A |
G |
6: 119,801,564 (GRCm39) |
I151T |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,875,699 (GRCm39) |
R546H |
probably damaging |
Het |
| Fbxl14 |
A |
T |
6: 119,457,742 (GRCm39) |
K308* |
probably null |
Het |
| Fbxw24 |
A |
T |
9: 109,437,516 (GRCm39) |
|
probably null |
Het |
| Gldn |
T |
A |
9: 54,245,976 (GRCm39) |
M509K |
probably benign |
Het |
| Gpr139 |
T |
C |
7: 118,743,866 (GRCm39) |
I240V |
probably benign |
Het |
| Herc1 |
G |
T |
9: 66,347,116 (GRCm39) |
M1990I |
possibly damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,231 (GRCm39) |
I467T |
probably benign |
Het |
| Isl2 |
T |
C |
9: 55,449,685 (GRCm39) |
F85L |
probably benign |
Het |
| Lat |
T |
C |
7: 125,963,612 (GRCm39) |
N197D |
probably damaging |
Het |
| Marchf1 |
T |
C |
8: 66,921,169 (GRCm39) |
V282A |
probably benign |
Het |
| Meiosin |
T |
A |
7: 18,835,044 (GRCm39) |
D393V |
unknown |
Het |
| Mrpl9 |
A |
G |
3: 94,351,075 (GRCm39) |
H85R |
possibly damaging |
Het |
| Mterf2 |
G |
T |
10: 84,956,381 (GRCm39) |
A81E |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,264,782 (GRCm39) |
C107R |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,075,635 (GRCm39) |
V642E |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,871 (GRCm39) |
I209V |
probably benign |
Het |
| Or6c212 |
T |
A |
10: 129,559,018 (GRCm39) |
I132F |
probably benign |
Het |
| Pdik1l |
A |
G |
4: 134,006,804 (GRCm39) |
S112P |
unknown |
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Rest |
T |
A |
5: 77,416,119 (GRCm39) |
L111Q |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,352,110 (GRCm39) |
|
probably null |
Het |
| Spg7 |
A |
C |
8: 123,800,617 (GRCm39) |
D169A |
possibly damaging |
Het |
| Syt3 |
T |
C |
7: 44,042,083 (GRCm39) |
V314A |
possibly damaging |
Het |
| Tbc1d20 |
G |
C |
2: 152,150,004 (GRCm39) |
G144R |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,617,016 (GRCm39) |
|
probably null |
Het |
| Tmem147 |
T |
G |
7: 30,427,716 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,755,170 (GRCm39) |
D401E |
probably damaging |
Het |
| Ulbp1 |
A |
G |
10: 7,395,685 (GRCm39) |
S291P |
unknown |
Het |
| Usp19 |
A |
G |
9: 108,379,112 (GRCm39) |
D1286G |
possibly damaging |
Het |
| Usp49 |
T |
C |
17: 47,989,873 (GRCm39) |
F553L |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,512 (GRCm39) |
T551A |
possibly 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 |
|
R2412:Acad9
|
UTSW |
3 |
36,127,740 (GRCm39) |
missense |
probably benign |
0.26 |
|
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 |
|
|
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'- AAGTTAACCATACAACTGGCTTCCC -3'
(R):5'- ATGCAGCATCTGAGTGGAGG -3'
Sequencing Primer
(F):5'- CTCTGCCAGGAGGAGAAAGCC -3'
(R):5'- ATCTGAGTGGAGGGCCCTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation