Incidental Mutation 'IGL02100:Acad9'
ID |
279710 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02100
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
36120128-36147002 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 36136029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 347
(Q347L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011492]
[ENSMUST00000197588]
|
AlphaFold |
Q8JZN5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000011492
AA Change: Q347L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000011492 Gene: ENSMUSG00000027710 AA Change: Q347L
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: ENSMUST00000195896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196535
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197588
AA Change: Q69L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142995 Gene: ENSMUSG00000027710 AA Change: Q69L
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
T |
C |
2: 48,788,630 (GRCm39) |
|
probably benign |
Het |
Ankrd28 |
T |
C |
14: 31,449,582 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,735,426 (GRCm39) |
Y498C |
probably damaging |
Het |
Cdh3 |
G |
A |
8: 107,270,322 (GRCm39) |
V400I |
probably benign |
Het |
Chrnb1 |
G |
T |
11: 69,684,281 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,524,177 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,124,793 (GRCm39) |
L35P |
probably damaging |
Het |
Dennd2c |
G |
A |
3: 103,060,991 (GRCm39) |
S561N |
probably damaging |
Het |
Dennd4a |
A |
T |
9: 64,816,988 (GRCm39) |
|
probably benign |
Het |
Dnai4 |
A |
G |
4: 102,907,346 (GRCm39) |
C647R |
probably damaging |
Het |
Dynll1 |
A |
C |
5: 115,436,852 (GRCm39) |
V58G |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,755,442 (GRCm39) |
|
probably benign |
Het |
Ercc6 |
T |
C |
14: 32,239,052 (GRCm39) |
S47P |
probably benign |
Het |
Fam76b |
A |
G |
9: 13,755,416 (GRCm39) |
|
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,269,941 (GRCm39) |
|
probably benign |
Het |
Gdi2 |
T |
C |
13: 3,606,373 (GRCm39) |
F140L |
probably benign |
Het |
Gm28043 |
T |
C |
17: 29,910,400 (GRCm39) |
|
probably null |
Het |
Gm5117 |
T |
A |
8: 32,227,412 (GRCm39) |
|
noncoding transcript |
Het |
Gstm6 |
G |
T |
3: 107,849,653 (GRCm39) |
N85K |
probably benign |
Het |
Hip1r |
C |
T |
5: 124,137,006 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
C |
7: 67,839,706 (GRCm39) |
I671T |
probably benign |
Het |
Insrr |
T |
G |
3: 87,718,927 (GRCm39) |
F961C |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,099,663 (GRCm39) |
Y314H |
probably damaging |
Het |
Kif26b |
C |
A |
1: 178,743,512 (GRCm39) |
L756I |
probably damaging |
Het |
Lcor |
G |
A |
19: 41,547,193 (GRCm39) |
R259Q |
possibly damaging |
Het |
Mad1l1 |
T |
A |
5: 140,129,689 (GRCm39) |
S449C |
probably damaging |
Het |
Map1a |
T |
G |
2: 121,133,327 (GRCm39) |
L1381R |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,715,708 (GRCm39) |
V1992L |
possibly damaging |
Het |
Pigp |
G |
A |
16: 94,165,626 (GRCm39) |
Q99* |
probably null |
Het |
Pip4p2 |
T |
C |
4: 14,893,536 (GRCm39) |
I133T |
probably benign |
Het |
Rgs8 |
A |
T |
1: 153,568,469 (GRCm39) |
|
probably null |
Het |
Rnf170 |
T |
A |
8: 26,614,012 (GRCm39) |
L36H |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,599,807 (GRCm39) |
S1004G |
probably benign |
Het |
Rpl10a-ps2 |
T |
C |
13: 8,990,779 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
Scn7a |
T |
G |
2: 66,505,843 (GRCm39) |
*1682S |
probably null |
Het |
Sema3d |
A |
G |
5: 12,634,958 (GRCm39) |
T675A |
probably benign |
Het |
Slc1a2 |
T |
C |
2: 102,586,434 (GRCm39) |
F346S |
probably damaging |
Het |
St14 |
G |
T |
9: 31,011,426 (GRCm39) |
|
probably benign |
Het |
Stard5 |
T |
C |
7: 83,289,653 (GRCm39) |
V173A |
possibly damaging |
Het |
Taf1b |
A |
G |
12: 24,594,394 (GRCm39) |
Y309C |
possibly damaging |
Het |
Tet1 |
T |
C |
10: 62,648,507 (GRCm39) |
N1975S |
possibly damaging |
Het |
Them5 |
T |
A |
3: 94,251,782 (GRCm39) |
I131N |
probably damaging |
Het |
Tnc |
A |
C |
4: 63,918,398 (GRCm39) |
V1171G |
possibly damaging |
Het |
Ttc12 |
C |
A |
9: 49,351,482 (GRCm39) |
G672W |
probably damaging |
Het |
Usp8 |
T |
C |
2: 126,579,774 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
G |
8: 107,624,807 (GRCm39) |
N92S |
probably benign |
Het |
Was |
A |
T |
X: 7,956,554 (GRCm39) |
F38L |
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 |
|
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 |
|
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 |
|
Posted On |
2015-04-16 |