Incidental Mutation 'R1741:Acad10'
| ID |
200338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad10
|
| Ensembl Gene |
ENSMUSG00000029456 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 10 |
| Synonyms |
2410021P16Rik |
| MMRRC Submission |
039773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121759089-121798577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121785899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 230
(K230R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031412]
[ENSMUST00000111770]
|
| AlphaFold |
Q8K370 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031412
AA Change: K230R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: K230R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD_2
|
45 |
231 |
1.6e-14 |
PFAM |
|
Pfam:Hydrolase
|
88 |
225 |
5e-8 |
PFAM |
|
Pfam:APH
|
287 |
531 |
1.8e-52 |
PFAM |
|
Pfam:Acyl-CoA_dh_N
|
660 |
787 |
1.7e-15 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
791 |
892 |
2.7e-20 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
904 |
1055 |
1.1e-35 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
919 |
1037 |
6.4e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111770
AA Change: K230R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: K230R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD_2
|
45 |
231 |
2.3e-14 |
PFAM |
|
Pfam:APH
|
287 |
523 |
3.2e-50 |
PFAM |
|
Pfam:EcKinase
|
390 |
504 |
5.2e-8 |
PFAM |
|
Pfam:Acyl-CoA_dh_N
|
660 |
787 |
3.4e-14 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
791 |
845 |
2.7e-13 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
904 |
1055 |
9.4e-36 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
919 |
1037 |
1.6e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137231
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| 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 of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034E13Rik |
A |
G |
18: 52,793,578 (GRCm39) |
N37S |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,744,252 (GRCm39) |
N260D |
probably benign |
Het |
| Adam24 |
T |
C |
8: 41,132,642 (GRCm39) |
Y37H |
probably benign |
Het |
| Ahcy |
G |
A |
2: 154,906,154 (GRCm39) |
A229V |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,117,347 (GRCm39) |
V563A |
possibly damaging |
Het |
| Bcl9l |
T |
A |
9: 44,420,986 (GRCm39) |
M1427K |
probably damaging |
Het |
| Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
| Btg4 |
A |
T |
9: 51,027,910 (GRCm39) |
I27L |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,539,076 (GRCm39) |
Y366C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,246,480 (GRCm39) |
Y1085H |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,426,892 (GRCm39) |
D616G |
possibly damaging |
Het |
| Crlf1 |
C |
A |
8: 70,953,556 (GRCm39) |
D243E |
probably damaging |
Het |
| Cyp2b23 |
A |
G |
7: 26,372,502 (GRCm39) |
V371A |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,470,091 (GRCm39) |
S534P |
probably damaging |
Het |
| Eln |
A |
G |
5: 134,758,038 (GRCm39) |
V185A |
unknown |
Het |
| Epor |
C |
T |
9: 21,871,067 (GRCm39) |
G301D |
probably damaging |
Het |
| Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,684,915 (GRCm39) |
T340S |
probably benign |
Het |
| Fcgbpl1 |
G |
T |
7: 27,857,279 (GRCm39) |
C2209F |
probably damaging |
Het |
| Fez1 |
T |
A |
9: 36,755,029 (GRCm39) |
D9E |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,820,256 (GRCm39) |
F5330L |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,425,544 (GRCm39) |
R197Q |
probably damaging |
Het |
| Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
G |
2: 21,832,359 (GRCm39) |
N1153S |
probably benign |
Het |
| Gramd4 |
T |
C |
15: 85,975,730 (GRCm39) |
|
probably null |
Het |
| Hhatl |
T |
A |
9: 121,618,125 (GRCm39) |
Y210F |
possibly damaging |
Het |
| Hltf |
T |
C |
3: 20,140,352 (GRCm39) |
W422R |
probably damaging |
Het |
| Hspa5 |
T |
C |
2: 34,662,704 (GRCm39) |
S87P |
possibly damaging |
Het |
| Il21 |
T |
C |
3: 37,281,811 (GRCm39) |
H111R |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,183 (GRCm39) |
G73S |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,755 (GRCm39) |
D972G |
possibly damaging |
Het |
| Kif21b |
C |
T |
1: 136,083,880 (GRCm39) |
A709V |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
A |
G |
13: 74,511,705 (GRCm39) |
L125P |
probably damaging |
Het |
| Mapk8ip3 |
A |
G |
17: 25,118,828 (GRCm39) |
S1169P |
probably damaging |
Het |
| Me3 |
A |
T |
7: 89,501,041 (GRCm39) |
Y584F |
probably damaging |
Het |
| Mxra7 |
T |
G |
11: 116,707,070 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
C |
11: 79,334,757 (GRCm39) |
S870P |
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,643,350 (GRCm39) |
G525S |
probably damaging |
Het |
| Nyap1 |
A |
T |
5: 137,731,387 (GRCm39) |
S726T |
probably damaging |
Het |
| Padi4 |
A |
G |
4: 140,473,481 (GRCm39) |
V652A |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,726,524 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
G |
A |
4: 99,822,062 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,154,244 (GRCm39) |
S2512P |
probably damaging |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,922 (GRCm39) |
V154A |
probably damaging |
Het |
| Rassf4 |
T |
C |
6: 116,616,450 (GRCm39) |
E287G |
probably damaging |
Het |
| Rnh1 |
C |
T |
7: 140,743,936 (GRCm39) |
R174H |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,317,938 (GRCm39) |
I1517F |
probably damaging |
Het |
| Sftpb |
C |
A |
6: 72,282,797 (GRCm39) |
A90E |
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,556,193 (GRCm39) |
K61R |
probably damaging |
Het |
| Tmem132d |
A |
C |
5: 127,861,922 (GRCm39) |
M733R |
probably benign |
Het |
| Tmem248 |
A |
G |
5: 130,265,664 (GRCm39) |
I156V |
probably benign |
Het |
| Traf2 |
T |
C |
2: 25,414,495 (GRCm39) |
D339G |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,982,362 (GRCm39) |
|
probably null |
Het |
| Tuba8 |
T |
A |
6: 121,199,727 (GRCm39) |
I137N |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,314,103 (GRCm39) |
T663A |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,431 (GRCm39) |
F669I |
probably damaging |
Het |
| Wdr95 |
G |
A |
5: 149,518,861 (GRCm39) |
|
probably null |
Het |
| Wfdc8 |
T |
G |
2: 164,450,789 (GRCm39) |
|
probably benign |
Het |
| Zfp64 |
A |
C |
2: 168,768,238 (GRCm39) |
V458G |
probably benign |
Het |
| Zfp868 |
C |
T |
8: 70,064,519 (GRCm39) |
G272D |
probably damaging |
Het |
|
| Other mutations in Acad10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02379:Acad10
|
APN |
5 |
121,760,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02469:Acad10
|
APN |
5 |
121,783,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02526:Acad10
|
APN |
5 |
121,784,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02623:Acad10
|
APN |
5 |
121,767,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02643:Acad10
|
APN |
5 |
121,769,633 (GRCm39) |
missense |
probably benign |
|
|
IGL02685:Acad10
|
APN |
5 |
121,770,672 (GRCm39) |
missense |
probably benign |
|
|
IGL03139:Acad10
|
APN |
5 |
121,764,145 (GRCm39) |
missense |
probably benign |
|
|
IGL03267:Acad10
|
APN |
5 |
121,775,412 (GRCm39) |
missense |
probably benign |
0.34 |
|
P0026:Acad10
|
UTSW |
5 |
121,775,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0099:Acad10
|
UTSW |
5 |
121,759,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Acad10
|
UTSW |
5 |
121,765,445 (GRCm39) |
nonsense |
probably null |
|
|
R1051:Acad10
|
UTSW |
5 |
121,764,143 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1052:Acad10
|
UTSW |
5 |
121,787,604 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1116:Acad10
|
UTSW |
5 |
121,768,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Acad10
|
UTSW |
5 |
121,764,104 (GRCm39) |
splice site |
probably benign |
|
|
R1548:Acad10
|
UTSW |
5 |
121,764,103 (GRCm39) |
splice site |
probably benign |
|
|
R1571:Acad10
|
UTSW |
5 |
121,759,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1592:Acad10
|
UTSW |
5 |
121,783,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Acad10
|
UTSW |
5 |
121,769,456 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1974:Acad10
|
UTSW |
5 |
121,764,248 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2007:Acad10
|
UTSW |
5 |
121,772,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Acad10
|
UTSW |
5 |
121,787,523 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2351:Acad10
|
UTSW |
5 |
121,767,990 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2511:Acad10
|
UTSW |
5 |
121,769,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2570:Acad10
|
UTSW |
5 |
121,768,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Acad10
|
UTSW |
5 |
121,760,881 (GRCm39) |
missense |
probably benign |
|
|
R3846:Acad10
|
UTSW |
5 |
121,772,749 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4106:Acad10
|
UTSW |
5 |
121,769,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4107:Acad10
|
UTSW |
5 |
121,769,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4108:Acad10
|
UTSW |
5 |
121,769,527 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5569:Acad10
|
UTSW |
5 |
121,764,143 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5704:Acad10
|
UTSW |
5 |
121,769,606 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5845:Acad10
|
UTSW |
5 |
121,764,146 (GRCm39) |
missense |
probably benign |
|
|
R5990:Acad10
|
UTSW |
5 |
121,783,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Acad10
|
UTSW |
5 |
121,772,864 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6145:Acad10
|
UTSW |
5 |
121,760,096 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6384:Acad10
|
UTSW |
5 |
121,790,066 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6491:Acad10
|
UTSW |
5 |
121,768,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Acad10
|
UTSW |
5 |
121,770,555 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6941:Acad10
|
UTSW |
5 |
121,787,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7221:Acad10
|
UTSW |
5 |
121,768,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Acad10
|
UTSW |
5 |
121,787,538 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7355:Acad10
|
UTSW |
5 |
121,768,780 (GRCm39) |
nonsense |
probably null |
|
|
R7483:Acad10
|
UTSW |
5 |
121,794,075 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7553:Acad10
|
UTSW |
5 |
121,777,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:Acad10
|
UTSW |
5 |
121,784,929 (GRCm39) |
splice site |
probably null |
|
|
R8075:Acad10
|
UTSW |
5 |
121,790,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8400:Acad10
|
UTSW |
5 |
121,764,268 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9171:Acad10
|
UTSW |
5 |
121,767,981 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0061:Acad10
|
UTSW |
5 |
121,760,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGACAGTCAAAGCCCACTTTTCC -3'
(R):5'- ACATCATTTTCCAGAACGCTTCCCG -3'
Sequencing Primer
(F):5'- AAGCCCACTTTTCCCACCC -3'
(R):5'- AGAACGCTTCCCGTTATAGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation