Incidental Mutation 'R1548:Acad10'
ID |
172319 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acad10
|
Ensembl Gene |
ENSMUSG00000029456 |
Gene Name |
acyl-Coenzyme A dehydrogenase family, member 10 |
Synonyms |
2410021P16Rik |
MMRRC Submission |
039587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1548 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
121759089-121798577 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to C
at 121764104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031412]
[ENSMUST00000111770]
|
AlphaFold |
Q8K370 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031412
|
SMART Domains |
Protein: ENSMUSP00000031412 Gene: ENSMUSG00000029456
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
|
SMART Domains |
Protein: ENSMUSP00000107400 Gene: ENSMUSG00000029456
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: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
Validation Efficiency |
99% (69/70) |
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 |
A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
Ang2 |
C |
A |
14: 51,432,990 (GRCm39) |
E131* |
probably null |
Het |
Ankfn1 |
T |
C |
11: 89,417,367 (GRCm39) |
N82D |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,885,847 (GRCm39) |
I181T |
possibly damaging |
Het |
Bcl2l12 |
C |
G |
7: 44,642,242 (GRCm39) |
G215R |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,194,194 (GRCm39) |
Y1044H |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,038,675 (GRCm39) |
F1172S |
probably damaging |
Het |
Cct8 |
A |
G |
16: 87,282,472 (GRCm39) |
I482T |
probably damaging |
Het |
Cfap74 |
C |
T |
4: 155,518,502 (GRCm39) |
T580I |
probably benign |
Het |
Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
Cpa1 |
G |
A |
6: 30,642,334 (GRCm39) |
G245D |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,845,371 (GRCm39) |
V801A |
possibly damaging |
Het |
Ddx10 |
T |
C |
9: 53,060,861 (GRCm39) |
|
probably null |
Het |
Ddx4 |
T |
C |
13: 112,736,531 (GRCm39) |
N613S |
probably damaging |
Het |
Drd3 |
A |
G |
16: 43,641,704 (GRCm39) |
D340G |
probably benign |
Het |
E2f4 |
A |
G |
8: 106,031,320 (GRCm39) |
*411W |
probably null |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Foxp1 |
A |
T |
6: 98,922,381 (GRCm39) |
I450N |
probably damaging |
Het |
Ftdc1 |
A |
T |
16: 58,436,202 (GRCm39) |
D40E |
probably benign |
Het |
Gpr19 |
A |
G |
6: 134,847,047 (GRCm39) |
F175S |
possibly damaging |
Het |
Gpr21 |
C |
T |
2: 37,408,084 (GRCm39) |
T210M |
probably damaging |
Het |
Grhl2 |
C |
T |
15: 37,336,567 (GRCm39) |
A488V |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,778,328 (GRCm39) |
T435A |
probably benign |
Het |
Hoxb4 |
C |
T |
11: 96,209,725 (GRCm39) |
R44* |
probably null |
Het |
Ifi47 |
A |
G |
11: 48,986,698 (GRCm39) |
D155G |
probably damaging |
Het |
Igdcc4 |
T |
C |
9: 65,042,509 (GRCm39) |
L142P |
probably benign |
Het |
Ints6 |
G |
A |
14: 62,951,141 (GRCm39) |
P296L |
probably damaging |
Het |
Itga3 |
A |
G |
11: 94,937,745 (GRCm39) |
|
probably null |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Krtap20-1 |
G |
A |
16: 88,812,277 (GRCm39) |
|
probably benign |
Het |
Lgals12 |
A |
T |
19: 7,581,677 (GRCm39) |
H50Q |
probably benign |
Het |
Lrp12 |
A |
G |
15: 39,735,902 (GRCm39) |
S696P |
probably damaging |
Het |
Lrp6 |
G |
A |
6: 134,436,392 (GRCm39) |
T1258I |
possibly damaging |
Het |
Meis2 |
C |
T |
2: 115,889,183 (GRCm39) |
D190N |
probably damaging |
Het |
Mir100hg |
T |
C |
9: 41,492,672 (GRCm39) |
L116P |
probably damaging |
Het |
Mon2 |
C |
T |
10: 122,871,912 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,238,368 (GRCm39) |
|
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,379,064 (GRCm39) |
H1394R |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,079,028 (GRCm39) |
I929F |
probably damaging |
Het |
Nek6 |
T |
A |
2: 38,458,907 (GRCm39) |
Y141N |
probably damaging |
Het |
Notch4 |
T |
A |
17: 34,787,396 (GRCm39) |
C319S |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,957,525 (GRCm39) |
D285V |
probably benign |
Het |
Olfml1 |
T |
C |
7: 107,189,582 (GRCm39) |
S216P |
possibly damaging |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Pfkfb2 |
G |
T |
1: 130,625,820 (GRCm39) |
H453Q |
probably benign |
Het |
Pigt |
C |
T |
2: 164,343,439 (GRCm39) |
T305I |
probably benign |
Het |
Plxnb1 |
C |
T |
9: 108,929,968 (GRCm39) |
L275F |
possibly damaging |
Het |
Ppm1d |
C |
T |
11: 85,230,431 (GRCm39) |
R350C |
probably damaging |
Het |
Prss1l |
G |
T |
6: 41,372,945 (GRCm39) |
L72F |
probably damaging |
Het |
Rassf1 |
C |
A |
9: 107,429,045 (GRCm39) |
P84T |
probably benign |
Het |
Rgl3 |
G |
T |
9: 21,892,002 (GRCm39) |
R361S |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,333,533 (GRCm39) |
R2914H |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,569,435 (GRCm39) |
C4956* |
probably null |
Het |
Scaper |
C |
T |
9: 55,723,954 (GRCm39) |
R668H |
probably damaging |
Het |
Spata6 |
T |
C |
4: 111,636,203 (GRCm39) |
F165L |
probably benign |
Het |
Tcirg1 |
A |
T |
19: 3,946,845 (GRCm39) |
W694R |
probably benign |
Het |
Tmem245 |
A |
T |
4: 56,906,233 (GRCm39) |
Y160* |
probably null |
Het |
Tshr |
T |
C |
12: 91,500,805 (GRCm39) |
Y279H |
probably damaging |
Het |
Ttf1 |
A |
C |
2: 28,955,150 (GRCm39) |
K171N |
probably damaging |
Het |
Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,896 (GRCm39) |
V611A |
probably damaging |
Het |
Zfp142 |
G |
T |
1: 74,609,263 (GRCm39) |
H1408N |
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 |
121,764,103 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACACAAATGGTTCCTGGCTGC -3'
(R):5'- CGTGTGCCCAAGGAAAACATACTCC -3'
Sequencing Primer
(F):5'- TGAGAACCTCGCTCTCAGC -3'
(R):5'- AGGAAAACATACTCCTGGGC -3'
|
Posted On |
2014-04-13 |