Incidental Mutation 'IGL02685:Acad10'
| ID |
303534 |
| 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 # |
IGL02685
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121759089-121798577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121770672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 532
(F532L)
|
| 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: F532L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: F532L
| 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: F532L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: F532L
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,869,682 (GRCm39) |
Y779C |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,123,323 (GRCm39) |
|
probably null |
Het |
| Akr1d1 |
T |
C |
6: 37,507,278 (GRCm39) |
|
probably benign |
Het |
| Aqp11 |
A |
G |
7: 97,386,759 (GRCm39) |
Y146H |
probably damaging |
Het |
| Cdh2 |
A |
T |
18: 16,779,557 (GRCm39) |
L168Q |
probably damaging |
Het |
| Ces2f |
C |
T |
8: 105,679,730 (GRCm39) |
Q277* |
probably null |
Het |
| Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,673,764 (GRCm39) |
V984A |
unknown |
Het |
| Col5a3 |
T |
C |
9: 20,683,501 (GRCm39) |
D1557G |
unknown |
Het |
| Cpb1 |
A |
T |
3: 20,319,520 (GRCm39) |
V188E |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Ephb1 |
G |
T |
9: 101,918,302 (GRCm39) |
Y402* |
probably null |
Het |
| Foxm1 |
T |
C |
6: 128,350,070 (GRCm39) |
L319S |
possibly damaging |
Het |
| Gmppb |
T |
C |
9: 107,927,118 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
T |
G |
6: 64,322,800 (GRCm39) |
M600R |
possibly damaging |
Het |
| Gstm6 |
T |
C |
3: 107,848,507 (GRCm39) |
K57E |
probably benign |
Het |
| Hars2 |
T |
G |
18: 36,924,171 (GRCm39) |
S422A |
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,041,107 (GRCm39) |
M1092T |
possibly damaging |
Het |
| Ighv13-1 |
C |
A |
12: 114,231,403 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
C |
A |
13: 95,807,912 (GRCm39) |
R785L |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,334,329 (GRCm39) |
Q8* |
probably null |
Het |
| Mms22l |
A |
G |
4: 24,591,133 (GRCm39) |
T1035A |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,817,658 (GRCm39) |
Y535H |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,065,313 (GRCm39) |
K6234N |
possibly damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,084,982 (GRCm39) |
I199T |
probably damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,134 (GRCm39) |
F304I |
possibly damaging |
Het |
| Or4c108 |
T |
A |
2: 88,803,365 (GRCm39) |
N290I |
possibly damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,357 (GRCm39) |
T77K |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,845,054 (GRCm39) |
E904G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,162,628 (GRCm39) |
*831W |
probably null |
Het |
| Prkdc |
T |
C |
16: 15,653,907 (GRCm39) |
V3888A |
possibly damaging |
Het |
| Scn9a |
C |
A |
2: 66,367,637 (GRCm39) |
S693I |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,804,534 (GRCm39) |
T379A |
probably benign |
Het |
| Ska1 |
T |
A |
18: 74,330,119 (GRCm39) |
H207L |
probably benign |
Het |
| Slc17a9 |
C |
A |
2: 180,375,602 (GRCm39) |
Q175K |
probably damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,589,306 (GRCm39) |
T396I |
probably benign |
Het |
| Slc9a4 |
A |
C |
1: 40,668,742 (GRCm39) |
H795P |
probably benign |
Het |
| Sorbs2 |
C |
T |
8: 46,256,877 (GRCm39) |
T955I |
probably benign |
Het |
| Spata4 |
A |
T |
8: 55,053,963 (GRCm39) |
H43L |
probably benign |
Het |
| Ss18l2 |
G |
A |
9: 121,539,484 (GRCm39) |
A6T |
possibly damaging |
Het |
| Sult1e1 |
C |
T |
5: 87,727,765 (GRCm39) |
W172* |
probably null |
Het |
| Tlcd1 |
T |
C |
11: 78,070,363 (GRCm39) |
|
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,683,400 (GRCm39) |
S652P |
probably damaging |
Het |
| Vps37b |
T |
C |
5: 124,148,874 (GRCm39) |
S54G |
probably damaging |
Het |
| Wdr26 |
A |
T |
1: 181,011,345 (GRCm39) |
S511T |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,477,213 (GRCm39) |
Y3251C |
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 |
|
|
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 |
Incidental Mutation