Incidental Mutation 'R6620:Acad9'
ID |
528124 |
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 |
044743-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R6620 (G1)
|
Quality Score |
163.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
36120128-36147002 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 36120294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 13
(A13S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142557
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011492]
[ENSMUST00000196648]
|
AlphaFold |
Q8JZN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000011492
AA Change: A13S
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000011492 Gene: ENSMUSG00000027710 AA Change: A13S
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 |
possibly damaging
Transcript: ENSMUST00000196648
AA Change: A13S
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142557 Gene: ENSMUSG00000027710 AA Change: A13S
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: ENSMUST00000198987
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
Ces1e |
C |
A |
8: 93,950,546 (GRCm39) |
K79N |
probably damaging |
Het |
Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
Kcnj16 |
T |
C |
11: 110,915,473 (GRCm39) |
V45A |
probably damaging |
Het |
Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
Mapre2 |
T |
C |
18: 23,991,002 (GRCm39) |
V123A |
probably benign |
Het |
Mtfr1l |
A |
G |
4: 134,256,394 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
Pcdha8 |
T |
C |
18: 37,125,581 (GRCm39) |
I21T |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
Ttc8 |
T |
C |
12: 98,923,579 (GRCm39) |
Y212H |
possibly damaging |
Het |
Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
Zfp808 |
T |
A |
13: 62,320,638 (GRCm39) |
N622K |
probably benign |
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 |
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'- GAACGACCTGTCCAATAGCC -3'
(R):5'- ACTCTGGCCAGAATGAAAGGTG -3'
Sequencing Primer
(F):5'- TGTCCAATAGCCTCGCTCAAGG -3'
(R):5'- CCAGAATGAAAGGTGGGAGC -3'
|
Posted On |
2018-07-24 |