Incidental Mutation 'R6491:Acad10'
| ID |
522863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad10
|
| Ensembl Gene |
ENSMUSG00000029456 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 10 |
| Synonyms |
2410021P16Rik |
| MMRRC Submission |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121759089-121798577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121768220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 779
(W779G)
|
| 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: W779G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: W779G
| 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: W779G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: W779G
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,656,483 (GRCm39) |
N323S |
probably benign |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
| Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
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 |
|
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 |
|
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'- CCTCTTTGATGGAAGCCTCG -3'
(R):5'- AGGAAACGCTTTCATGAGTTGTC -3'
Sequencing Primer
(F):5'- CTCGATGTTAGAGGCATCTGAG -3'
(R):5'- AAACGCTTTCATGAGTTGTCAGAGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation