Incidental Mutation 'IGL02643:Acad10'
ID |
301843 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acad10
|
Ensembl Gene |
ENSMUSG00000029456 |
Gene Name |
acyl-Coenzyme A dehydrogenase family, member 10 |
Synonyms |
2410021P16Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02643
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121759089-121798577 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 121769633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 608
(M608L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031412]
[ENSMUST00000111770]
|
AlphaFold |
Q8K370 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031412
AA Change: M608L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031412 Gene: ENSMUSG00000029456 AA Change: M608L
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 benign
Transcript: ENSMUST00000111770
AA Change: M608L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000107400 Gene: ENSMUSG00000029456 AA Change: M608L
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: ENSMUST00000137789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143187
|
Coding Region Coverage |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
A |
T |
11: 50,679,527 (GRCm39) |
M836L |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,619,061 (GRCm39) |
M1597K |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,533,089 (GRCm39) |
F1145L |
possibly damaging |
Het |
Atp13a3 |
A |
T |
16: 30,152,614 (GRCm39) |
W32R |
probably null |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bod1l |
T |
A |
5: 41,976,148 (GRCm39) |
E1722V |
possibly damaging |
Het |
Ceacam16 |
A |
G |
7: 19,595,086 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,284,258 (GRCm39) |
Y840N |
unknown |
Het |
Dlg5 |
A |
G |
14: 24,241,250 (GRCm39) |
C132R |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,718,429 (GRCm39) |
N242K |
probably damaging |
Het |
Dsg3 |
G |
A |
18: 20,662,012 (GRCm39) |
V426I |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,625,706 (GRCm39) |
|
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,842,997 (GRCm39) |
M357K |
possibly damaging |
Het |
Gapvd1 |
A |
G |
2: 34,594,192 (GRCm39) |
S932P |
probably damaging |
Het |
Gata4 |
T |
A |
14: 63,442,204 (GRCm39) |
D205V |
possibly damaging |
Het |
Kcnk2 |
T |
A |
1: 188,990,976 (GRCm39) |
I195L |
possibly damaging |
Het |
Krt1 |
T |
C |
15: 101,755,479 (GRCm39) |
I427V |
probably benign |
Het |
Mapk1ip1l |
T |
A |
14: 47,548,339 (GRCm39) |
H162Q |
possibly damaging |
Het |
Micu1 |
A |
G |
10: 59,675,558 (GRCm39) |
D380G |
probably damaging |
Het |
Mknk2 |
A |
C |
10: 80,504,435 (GRCm39) |
L289R |
probably damaging |
Het |
Mtcl2 |
A |
G |
2: 156,882,663 (GRCm39) |
V463A |
probably damaging |
Het |
Myo18a |
A |
T |
11: 77,668,998 (GRCm39) |
N286I |
possibly damaging |
Het |
Or5ae2 |
A |
T |
7: 84,506,239 (GRCm39) |
I221F |
probably damaging |
Het |
Pdp1 |
C |
T |
4: 11,962,062 (GRCm39) |
R83H |
probably benign |
Het |
Ptafr |
A |
C |
4: 132,307,437 (GRCm39) |
I276L |
probably benign |
Het |
Rab3gap2 |
A |
T |
1: 184,999,197 (GRCm39) |
D968V |
possibly damaging |
Het |
Rplp1rt |
T |
C |
19: 12,824,300 (GRCm39) |
|
noncoding transcript |
Het |
Samd8 |
T |
A |
14: 21,843,212 (GRCm39) |
M447K |
probably damaging |
Het |
Six5 |
G |
T |
7: 18,831,455 (GRCm39) |
V649L |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,570,225 (GRCm39) |
F168I |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,869,497 (GRCm39) |
V521M |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,353,577 (GRCm39) |
D206G |
possibly damaging |
Het |
Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,685,009 (GRCm39) |
|
probably benign |
Het |
Tia1 |
A |
G |
6: 86,393,372 (GRCm39) |
I71V |
probably benign |
Het |
Ttc7 |
T |
C |
17: 87,648,327 (GRCm39) |
S509P |
possibly damaging |
Het |
Ttpal |
A |
G |
2: 163,449,140 (GRCm39) |
|
probably benign |
Het |
Tubgcp2 |
A |
T |
7: 139,576,067 (GRCm39) |
N865K |
probably damaging |
Het |
Wdr45 |
G |
T |
X: 7,593,288 (GRCm39) |
E62* |
probably null |
Het |
Zfp507 |
A |
G |
7: 35,494,656 (GRCm39) |
F129S |
probably damaging |
Het |
Zfp518b |
T |
A |
5: 38,831,498 (GRCm39) |
H169L |
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 |
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 |
R1741:Acad10
|
UTSW |
5 |
121,785,899 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |