Incidental Mutation 'R5956:Acad9'
ID |
471166 |
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 |
044144-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R5956 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
36120128-36147002 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 36129323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142995
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011492]
[ENSMUST00000196648]
[ENSMUST00000197588]
|
AlphaFold |
Q8JZN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000011492
|
SMART Domains |
Protein: ENSMUSP00000011492 Gene: ENSMUSG00000027710
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: ENSMUST00000196395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196535
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196648
|
SMART Domains |
Protein: ENSMUSP00000142557 Gene: ENSMUSG00000027710
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
98% (63/64) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,203,893 (GRCm39) |
I398K |
possibly damaging |
Het |
Acsm2 |
T |
C |
7: 119,153,704 (GRCm39) |
S5P |
unknown |
Het |
Akp3 |
T |
C |
1: 87,054,667 (GRCm39) |
I334T |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,357,311 (GRCm39) |
R176H |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,736,337 (GRCm39) |
|
probably benign |
Het |
Cav1 |
C |
A |
6: 17,307,918 (GRCm39) |
N23K |
probably damaging |
Het |
Cep126 |
A |
G |
9: 8,112,120 (GRCm39) |
V151A |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,481,606 (GRCm39) |
|
probably null |
Het |
Crim1 |
T |
A |
17: 78,623,146 (GRCm39) |
V448E |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,655,278 (GRCm39) |
E8G |
possibly damaging |
Het |
Ddx31 |
A |
T |
2: 28,764,185 (GRCm39) |
I464F |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,764,432 (GRCm39) |
|
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,193,762 (GRCm39) |
E319G |
probably damaging |
Het |
Efl1 |
A |
G |
7: 82,301,107 (GRCm39) |
D37G |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,298,228 (GRCm39) |
R444G |
probably damaging |
Het |
Exoc2 |
C |
A |
13: 31,004,606 (GRCm39) |
C859F |
probably benign |
Het |
Gbx2 |
T |
C |
1: 89,860,908 (GRCm39) |
|
probably benign |
Het |
Gm12258 |
G |
A |
11: 58,750,285 (GRCm39) |
A9T |
probably benign |
Het |
Gpr141b |
T |
G |
13: 19,913,300 (GRCm39) |
|
noncoding transcript |
Het |
Grm4 |
A |
G |
17: 27,654,129 (GRCm39) |
V607A |
probably benign |
Het |
Gvin3 |
T |
C |
7: 106,200,677 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-74 |
C |
A |
12: 115,766,455 (GRCm39) |
W55L |
probably damaging |
Het |
Irx4 |
C |
A |
13: 73,415,626 (GRCm39) |
Y138* |
probably null |
Het |
Itpr1 |
C |
A |
6: 108,482,988 (GRCm39) |
T2352K |
probably benign |
Het |
Kcnk3 |
T |
G |
5: 30,745,854 (GRCm39) |
V65G |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,908,923 (GRCm39) |
E130G |
probably benign |
Het |
Mgat5 |
C |
A |
1: 127,310,676 (GRCm39) |
R197S |
probably benign |
Het |
Mpg |
T |
C |
11: 32,177,951 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,417,910 (GRCm39) |
C3619R |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,764,583 (GRCm39) |
V1321I |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,815,391 (GRCm39) |
T658A |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,692,037 (GRCm39) |
S154P |
possibly damaging |
Het |
Nsd1 |
T |
A |
13: 55,411,217 (GRCm39) |
F1423I |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or9g3 |
A |
G |
2: 85,584,183 (GRCm39) |
|
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,379,856 (GRCm39) |
R149G |
probably damaging |
Het |
Pacc1 |
A |
G |
1: 191,080,568 (GRCm39) |
S263G |
probably damaging |
Het |
Papola |
T |
A |
12: 105,777,300 (GRCm39) |
W281R |
probably damaging |
Het |
Pole |
C |
T |
5: 110,485,153 (GRCm39) |
|
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,334 (GRCm39) |
N889S |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,460,626 (GRCm39) |
S1084P |
probably damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Siglece |
T |
C |
7: 43,308,760 (GRCm39) |
T198A |
probably damaging |
Het |
Sptb |
T |
A |
12: 76,650,942 (GRCm39) |
M1678L |
probably benign |
Het |
Taf8 |
A |
T |
17: 47,809,467 (GRCm39) |
M98K |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,870,138 (GRCm39) |
|
probably benign |
Het |
Trrap |
C |
T |
5: 144,744,201 (GRCm39) |
|
silent |
Het |
Ttn |
G |
T |
2: 76,775,914 (GRCm39) |
N1709K |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,926,768 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
C |
5: 29,804,054 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,567,123 (GRCm39) |
S910P |
probably damaging |
Het |
Usp30 |
G |
A |
5: 114,257,682 (GRCm39) |
R280Q |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,530,457 (GRCm39) |
S142G |
possibly damaging |
Het |
Wdr95 |
T |
G |
5: 149,517,947 (GRCm39) |
C360G |
probably benign |
Het |
Zbtb4 |
A |
G |
11: 69,669,040 (GRCm39) |
I588V |
probably benign |
Het |
Zdhhc4 |
A |
T |
5: 143,310,604 (GRCm39) |
|
probably benign |
Het |
Zfp568 |
C |
A |
7: 29,697,288 (GRCm39) |
N69K |
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 |
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 |
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'- GCCATCTTGTCTATAAGCGAGAG -3'
(R):5'- ATTTTGAGCAGACAGACCTGG -3'
Sequencing Primer
(F):5'- CTTGTCTATAAGCGAGAGGTCCTCAG -3'
(R):5'- CAGACCTGGCTGGCTCTGTTAG -3'
|
Posted On |
2017-03-31 |