Incidental Mutation 'R2570:Acad10'
| ID |
252354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad10
|
| Ensembl Gene |
ENSMUSG00000029456 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 10 |
| Synonyms |
2410021P16Rik |
| MMRRC Submission |
040428-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2570 (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 A
at 121768267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 763
(N763I)
|
| 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: N763I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: N763I
| 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: N763I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: N763I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,709,239 (GRCm39) |
V281A |
probably damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,811 (GRCm39) |
N411K |
probably damaging |
Het |
| Adamdec1 |
T |
A |
14: 68,816,657 (GRCm39) |
Q77L |
probably damaging |
Het |
| Adgre4 |
T |
A |
17: 56,085,878 (GRCm39) |
F59Y |
possibly damaging |
Het |
| Akr1c18 |
T |
C |
13: 4,192,163 (GRCm39) |
N178S |
probably benign |
Het |
| Aldh1a7 |
T |
A |
19: 20,677,320 (GRCm39) |
T434S |
probably benign |
Het |
| Bcl10 |
T |
A |
3: 145,638,785 (GRCm39) |
N142K |
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,402 (GRCm39) |
I231M |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,496,649 (GRCm39) |
L2307* |
probably null |
Het |
| Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,977,742 (GRCm39) |
R1518Q |
possibly damaging |
Het |
| Cdk12 |
T |
G |
11: 98,094,618 (GRCm39) |
M142R |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
C |
T |
13: 113,455,121 (GRCm39) |
T389I |
probably benign |
Het |
| Cyp2c50 |
C |
G |
19: 40,078,764 (GRCm39) |
H90D |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,138,847 (GRCm39) |
M480T |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,734,795 (GRCm39) |
F57L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,443,029 (GRCm39) |
F355L |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,609 (GRCm39) |
R339G |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,624,490 (GRCm39) |
S840R |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,023 (GRCm39) |
Y35N |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,705,753 (GRCm39) |
V811A |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,061,045 (GRCm39) |
V1114E |
probably damaging |
Het |
| Frmd8 |
C |
A |
19: 5,924,740 (GRCm39) |
R28L |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,605 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Itgal |
T |
C |
7: 126,913,268 (GRCm39) |
F622L |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,130,865 (GRCm39) |
E451K |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,601,648 (GRCm39) |
F256I |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,951,354 (GRCm39) |
D1033V |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,982,043 (GRCm39) |
D1757E |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,659,358 (GRCm39) |
Y212H |
probably damaging |
Het |
| Lsm10 |
T |
C |
4: 125,991,716 (GRCm39) |
L24P |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,022,761 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Mtfp1 |
T |
C |
11: 4,044,504 (GRCm39) |
E27G |
probably damaging |
Het |
| Ncaph2 |
C |
A |
15: 89,254,678 (GRCm39) |
D399E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,105,864 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
C |
12: 85,379,320 (GRCm39) |
Y195* |
probably null |
Het |
| Npas1 |
T |
C |
7: 16,208,628 (GRCm39) |
D83G |
probably damaging |
Het |
| Nrsn2 |
A |
T |
2: 152,211,741 (GRCm39) |
F97I |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,503 (GRCm39) |
N10S |
probably benign |
Het |
| Or2ag12 |
A |
G |
7: 106,276,874 (GRCm39) |
I273T |
probably benign |
Het |
| Or55b10 |
T |
C |
7: 102,143,106 (GRCm39) |
N292S |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,305 (GRCm39) |
L292Q |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,665 (GRCm39) |
T283S |
probably benign |
Het |
| Pdk1 |
A |
C |
2: 71,703,904 (GRCm39) |
D64A |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,694,443 (GRCm39) |
T147A |
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,739,539 (GRCm39) |
A631T |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,988,870 (GRCm39) |
A660E |
possibly damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,336,787 (GRCm39) |
V55E |
possibly damaging |
Het |
| Shank2 |
A |
T |
7: 143,622,507 (GRCm39) |
I214F |
probably damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,433 (GRCm39) |
N186S |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,879,121 (GRCm39) |
|
noncoding transcript |
Het |
| Stradb |
C |
T |
1: 59,027,743 (GRCm39) |
T91I |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,927,721 (GRCm39) |
I359V |
probably benign |
Het |
| Tbl3 |
A |
T |
17: 24,922,290 (GRCm39) |
M405K |
possibly damaging |
Het |
| Tecta |
G |
T |
9: 42,243,848 (GRCm39) |
D2001E |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
T |
A |
13: 56,786,521 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
A |
T |
19: 10,837,106 (GRCm39) |
L612Q |
probably null |
Het |
| Tnf |
T |
C |
17: 35,419,476 (GRCm39) |
N102S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,185,156 (GRCm39) |
V31D |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,099,140 (GRCm39) |
F248L |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,036,744 (GRCm39) |
V408A |
probably benign |
Het |
| Vmn1r159 |
T |
C |
7: 22,542,307 (GRCm39) |
M242V |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,585 (GRCm39) |
L413H |
probably damaging |
Het |
| Zbtb2 |
T |
G |
10: 4,318,673 (GRCm39) |
N451T |
probably damaging |
Het |
| Zfp593 |
C |
A |
4: 133,972,869 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TGGTTAGAGTTCAGAGGGACC -3'
(R):5'- AGGGTCCTTAAACTCAGAGGAG -3'
Sequencing Primer
(F):5'- TTAGAGTTCAGAGGGACCCACATC -3'
(R):5'- TCCTTAAACTCAGAGGAGGGTGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation