Incidental Mutation 'R4214:Acad9'
| ID |
319333 |
| 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 |
041041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R4214 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
36120128-36147002 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36127752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 118
(E118G)
|
| 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: E118G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000011492
Gene: ENSMUSG00000027710
AA Change: E118G
| 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: E118G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142557
Gene: ENSMUSG00000027710
AA Change: E118G
| 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 |
0.8825 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.5%
|
| Validation Efficiency |
98% (64/65) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730013G03Rik |
C |
T |
1: 192,515,845 (GRCm39) |
|
noncoding transcript |
Het |
| Abca12 |
T |
A |
1: 71,327,856 (GRCm39) |
D1408V |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,243,877 (GRCm39) |
L1913F |
probably damaging |
Het |
| Adamts5 |
G |
A |
16: 85,665,531 (GRCm39) |
A590V |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,863,790 (GRCm39) |
Y791S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,346,603 (GRCm39) |
|
probably null |
Het |
| Aox4 |
T |
A |
1: 58,261,051 (GRCm39) |
I128N |
probably damaging |
Het |
| Atp2b3 |
A |
G |
X: 72,613,921 (GRCm39) |
M1142V |
probably benign |
Het |
| AU041133 |
A |
G |
10: 81,987,223 (GRCm39) |
H292R |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,456,666 (GRCm39) |
M158T |
probably benign |
Het |
| Bpnt1 |
T |
A |
1: 185,077,626 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,708,741 (GRCm39) |
D157G |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,895,357 (GRCm39) |
R499G |
possibly damaging |
Het |
| Ccr7 |
T |
C |
11: 99,035,872 (GRCm39) |
E350G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,486,076 (GRCm39) |
S524R |
probably benign |
Het |
| Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,966,840 (GRCm39) |
E282D |
possibly damaging |
Het |
| Drd2 |
A |
G |
9: 49,316,221 (GRCm39) |
K327R |
probably benign |
Het |
| Erich5 |
C |
T |
15: 34,471,557 (GRCm39) |
P262L |
possibly damaging |
Het |
| Ezh2 |
A |
C |
6: 47,510,748 (GRCm39) |
D578E |
probably damaging |
Het |
| Fez1 |
A |
G |
9: 36,781,784 (GRCm39) |
N20S |
probably damaging |
Het |
| Folr2 |
T |
G |
7: 101,492,906 (GRCm39) |
K39T |
probably damaging |
Het |
| Gm10549 |
G |
T |
18: 33,597,530 (GRCm39) |
|
probably null |
Het |
| Gm14393 |
C |
T |
2: 174,903,640 (GRCm39) |
C89Y |
probably benign |
Het |
| Gm5329 |
T |
G |
7: 31,671,828 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr162 |
A |
T |
6: 124,837,031 (GRCm39) |
W338R |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,898,141 (GRCm39) |
F65I |
possibly damaging |
Het |
| Klra6 |
T |
G |
6: 129,995,885 (GRCm39) |
I158L |
probably benign |
Het |
| Lpp |
T |
A |
16: 24,580,804 (GRCm39) |
Y173* |
probably null |
Het |
| Lrp12 |
A |
G |
15: 39,735,976 (GRCm39) |
V671A |
probably benign |
Het |
| Lrrc27 |
C |
T |
7: 138,803,609 (GRCm39) |
R178C |
probably damaging |
Het |
| Lrrc49 |
G |
A |
9: 60,573,609 (GRCm39) |
T225M |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,054,793 (GRCm39) |
S1915T |
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,181,344 (GRCm39) |
T109A |
probably benign |
Het |
| Mon2 |
T |
C |
10: 122,852,397 (GRCm39) |
E992G |
probably benign |
Het |
| Msl3 |
A |
G |
X: 167,450,059 (GRCm39) |
I267T |
probably damaging |
Het |
| Msl3 |
A |
T |
X: 167,445,430 (GRCm39) |
N430K |
probably damaging |
Het |
| Nab2 |
G |
T |
10: 127,500,917 (GRCm39) |
Y25* |
probably null |
Het |
| Notch3 |
T |
C |
17: 32,351,181 (GRCm39) |
E1938G |
possibly damaging |
Het |
| Or5ae2 |
C |
T |
7: 84,506,497 (GRCm39) |
H307Y |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,354,167 (GRCm39) |
T44A |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,856,212 (GRCm39) |
|
probably benign |
Het |
| Pfkp |
A |
G |
13: 6,669,261 (GRCm39) |
S241P |
probably damaging |
Het |
| Phgdh |
A |
T |
3: 98,235,377 (GRCm39) |
S166T |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,790,494 (GRCm39) |
Q1055* |
probably null |
Het |
| Plscr2 |
A |
G |
9: 92,169,790 (GRCm39) |
N80S |
probably benign |
Het |
| Polr3k |
A |
T |
2: 181,510,035 (GRCm39) |
M80L |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,171,383 (GRCm39) |
D304G |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,355,285 (GRCm39) |
T1529A |
probably damaging |
Het |
| Rcvrn |
A |
T |
11: 67,586,514 (GRCm39) |
H91L |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,606,518 (GRCm39) |
Y209C |
probably damaging |
Het |
| Themis3 |
T |
C |
17: 66,867,012 (GRCm39) |
N76S |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,623,975 (GRCm39) |
S310T |
possibly damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,173 (GRCm39) |
C252Y |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,420,003 (GRCm39) |
V216A |
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 |
|
|
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'- TTTCTGCCAGTGATACTAGTAGGC -3'
(R):5'- TATCTGGAGACACAAATAGGTCAGG -3'
Sequencing Primer
(F):5'- CTGCCAGTGATACTAGTAGGCTATAC -3'
(R):5'- CTCCCATTTGCTACAGTAATAGTATC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation