Incidental Mutation 'R0098:Acad9'
ID |
216083 |
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 |
038384-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R0098 (G1)
|
Quality Score |
42 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
36120128-36147002 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36127689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 97
(I97T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011492]
[ENSMUST00000196648]
[ENSMUST00000197588]
|
AlphaFold |
Q8JZN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000011492
AA Change: I97T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000011492 Gene: ENSMUSG00000027710 AA Change: I97T
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 damaging
Transcript: ENSMUST00000196648
AA Change: I97T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142557 Gene: ENSMUSG00000027710 AA Change: I97T
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 |
0.7315 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.2%
|
Validation Efficiency |
100% (54/54) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
C |
T |
9: 104,197,144 (GRCm39) |
|
probably null |
Het |
Adam32 |
T |
A |
8: 25,404,405 (GRCm39) |
Y200F |
possibly damaging |
Het |
Alpk2 |
A |
G |
18: 65,482,982 (GRCm39) |
L342S |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,465,390 (GRCm39) |
V2151A |
probably damaging |
Het |
Atm |
T |
C |
9: 53,429,869 (GRCm39) |
D389G |
probably benign |
Het |
Atp10b |
A |
T |
11: 43,080,431 (GRCm39) |
S236C |
probably benign |
Het |
B3gat1 |
C |
T |
9: 26,668,237 (GRCm39) |
R276C |
probably damaging |
Het |
Cndp1 |
T |
A |
18: 84,646,949 (GRCm39) |
E246D |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,909,792 (GRCm39) |
L1078P |
probably damaging |
Het |
Cyp20a1 |
G |
T |
1: 60,426,413 (GRCm39) |
E452* |
probably null |
Het |
Emb |
T |
C |
13: 117,404,034 (GRCm39) |
V262A |
probably damaging |
Het |
Ephb1 |
C |
T |
9: 101,918,339 (GRCm39) |
R390H |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,792,696 (GRCm39) |
L556S |
probably damaging |
Het |
Fam237b |
T |
A |
5: 5,625,355 (GRCm39) |
L17Q |
possibly damaging |
Het |
Fbf1 |
A |
T |
11: 116,038,945 (GRCm39) |
|
probably null |
Het |
Gid8 |
T |
A |
2: 180,356,528 (GRCm39) |
I55N |
possibly damaging |
Het |
Hexa |
T |
C |
9: 59,465,383 (GRCm39) |
Y213H |
probably damaging |
Het |
Kalrn |
A |
T |
16: 33,795,989 (GRCm39) |
I1262K |
possibly damaging |
Het |
Lrp1 |
C |
T |
10: 127,388,607 (GRCm39) |
V3281I |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,305,756 (GRCm39) |
D2935G |
probably damaging |
Het |
Lypd6 |
T |
A |
2: 50,080,792 (GRCm39) |
V160E |
probably benign |
Het |
Muc19 |
C |
T |
15: 91,777,101 (GRCm39) |
|
noncoding transcript |
Het |
Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
Myo18a |
A |
G |
11: 77,736,591 (GRCm39) |
E1564G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,226,971 (GRCm39) |
D202G |
probably damaging |
Het |
Palld |
C |
A |
8: 61,978,120 (GRCm39) |
G890V |
probably damaging |
Het |
Pcx |
C |
A |
19: 4,651,775 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,573,920 (GRCm39) |
W62R |
probably damaging |
Het |
Ppa2 |
C |
T |
3: 133,076,234 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,178,888 (GRCm39) |
I254M |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
Rd3 |
A |
G |
1: 191,717,261 (GRCm39) |
M244V |
probably benign |
Het |
Rfx5 |
T |
A |
3: 94,865,679 (GRCm39) |
V326E |
probably damaging |
Het |
Rgs3 |
G |
C |
4: 62,544,143 (GRCm39) |
R305P |
probably damaging |
Het |
Rpp40 |
A |
G |
13: 36,082,970 (GRCm39) |
Y173H |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,731,376 (GRCm39) |
N645D |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,302,446 (GRCm39) |
V657A |
possibly damaging |
Het |
Serpina3n |
T |
A |
12: 104,379,777 (GRCm39) |
V390E |
probably damaging |
Het |
Shank1 |
A |
G |
7: 43,962,709 (GRCm39) |
Y141C |
unknown |
Het |
Stat2 |
T |
A |
10: 128,119,131 (GRCm39) |
H428Q |
probably damaging |
Het |
Stat5a |
A |
T |
11: 100,766,452 (GRCm39) |
Q378L |
probably damaging |
Het |
Tfrc |
G |
T |
16: 32,442,244 (GRCm39) |
V490F |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,512,044 (GRCm39) |
N155S |
probably damaging |
Het |
Topaz1 |
T |
C |
9: 122,619,188 (GRCm39) |
Y1262H |
possibly damaging |
Het |
Ubxn8 |
T |
C |
8: 34,125,393 (GRCm39) |
|
probably benign |
Het |
Unk |
A |
G |
11: 115,940,995 (GRCm39) |
Y252C |
probably damaging |
Het |
Vmn2r66 |
A |
C |
7: 84,654,965 (GRCm39) |
M448R |
probably damaging |
Het |
Zfp386 |
T |
A |
12: 116,022,834 (GRCm39) |
L184* |
probably null |
Het |
Zfp985 |
T |
C |
4: 147,661,566 (GRCm39) |
S4P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAGGTGATCCTGACCAAACAAC -3'
(R):5'- AGTGTGGCAGGAAAATGTCCCAAAC -3'
Sequencing Primer
(F):5'- CCTGACCAAACAACTTCAGGTTTTAG -3'
(R):5'- CTGGAAGACTGCATTTAAAGACC -3'
|
Posted On |
2014-07-21 |