Incidental Mutation 'R2351:Acad10'
| ID |
246121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad10
|
| Ensembl Gene |
ENSMUSG00000029456 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 10 |
| Synonyms |
2410021P16Rik |
| MMRRC Submission |
040333-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2351 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121759089-121798577 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121767990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 820
(I820K)
|
| 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: I820K
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: I820K
| 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: I820K
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: I820K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
T |
1: 138,779,846 (GRCm39) |
Y135* |
probably null |
Het |
| Aadacl4fm1 |
A |
T |
4: 144,255,348 (GRCm39) |
Y256F |
probably damaging |
Het |
| Arl8b |
A |
T |
6: 108,798,484 (GRCm39) |
I178F |
possibly damaging |
Het |
| Asap1 |
A |
T |
15: 64,007,653 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
A |
T |
6: 113,766,718 (GRCm39) |
I552N |
possibly damaging |
Het |
| C130074G19Rik |
G |
T |
1: 184,615,060 (GRCm39) |
D43E |
probably benign |
Het |
| Ccdc162 |
C |
A |
10: 41,431,968 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
G |
19: 56,787,129 (GRCm39) |
K613T |
possibly damaging |
Het |
| Cggbp1 |
T |
A |
16: 64,676,046 (GRCm39) |
D37E |
possibly damaging |
Het |
| Cntn3 |
A |
T |
6: 102,314,344 (GRCm39) |
N123K |
possibly damaging |
Het |
| Col18a1 |
C |
T |
10: 76,948,538 (GRCm39) |
G325S |
probably benign |
Het |
| Cwc25 |
G |
T |
11: 97,638,218 (GRCm39) |
T405K |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,428,510 (GRCm39) |
V370A |
possibly damaging |
Het |
| Cyp4f13 |
T |
G |
17: 33,144,570 (GRCm39) |
I309L |
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,840,870 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,403,301 (GRCm39) |
D3080E |
probably benign |
Het |
| Ern2 |
A |
G |
7: 121,770,731 (GRCm39) |
V762A |
probably damaging |
Het |
| Fgr |
C |
T |
4: 132,724,548 (GRCm39) |
R255C |
probably damaging |
Het |
| Gcm2 |
A |
T |
13: 41,257,094 (GRCm39) |
D218E |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,869,640 (GRCm39) |
S131P |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 28,126,118 (GRCm39) |
C3S |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,113,226 (GRCm39) |
D840G |
probably benign |
Het |
| H3f3a |
T |
C |
1: 180,637,723 (GRCm39) |
T81A |
probably benign |
Het |
| Igsf23 |
C |
T |
7: 19,678,723 (GRCm39) |
W22* |
probably null |
Het |
| Il12rb2 |
G |
A |
6: 67,338,928 (GRCm39) |
Q3* |
probably null |
Het |
| Ino80d |
A |
T |
1: 63,124,994 (GRCm39) |
L156H |
probably benign |
Het |
| Kdm2a |
G |
A |
19: 4,379,154 (GRCm39) |
P554S |
probably benign |
Het |
| Lefty1 |
T |
A |
1: 180,764,807 (GRCm39) |
L244H |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,750,010 (GRCm39) |
S4398T |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,683,965 (GRCm39) |
D1126G |
probably damaging |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,341,574 (GRCm39) |
D111V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,420,169 (GRCm39) |
D1367V |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,276,257 (GRCm39) |
H666L |
possibly damaging |
Het |
| Nsmaf |
T |
A |
4: 6,437,921 (GRCm39) |
I77F |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,958,357 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,003,438 (GRCm39) |
R1287G |
probably damaging |
Het |
| Opn3 |
T |
C |
1: 175,520,077 (GRCm39) |
D9G |
probably benign |
Het |
| Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,904,743 (GRCm39) |
G231S |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,883 (GRCm39) |
Y61* |
probably null |
Het |
| Or6c8b |
A |
G |
10: 128,882,797 (GRCm39) |
V45A |
probably benign |
Het |
| Or6k2 |
T |
A |
1: 173,986,486 (GRCm39) |
V49D |
probably damaging |
Het |
| Or8k24 |
C |
T |
2: 86,216,471 (GRCm39) |
C97Y |
probably damaging |
Het |
| Parp10 |
A |
T |
15: 76,127,056 (GRCm39) |
S101R |
probably benign |
Het |
| Pdhx |
T |
A |
2: 102,854,562 (GRCm39) |
K399* |
probably null |
Het |
| Pdia4 |
A |
T |
6: 47,773,848 (GRCm39) |
|
probably null |
Het |
| Pla2g4f |
T |
C |
2: 120,130,923 (GRCm39) |
D844G |
probably benign |
Het |
| Prtg |
C |
A |
9: 72,764,106 (GRCm39) |
D526E |
probably damaging |
Het |
| Rassf6 |
T |
C |
5: 90,779,418 (GRCm39) |
D5G |
probably benign |
Het |
| Riok3 |
C |
T |
18: 12,282,724 (GRCm39) |
Q388* |
probably null |
Het |
| Robo4 |
T |
A |
9: 37,322,956 (GRCm39) |
F825L |
probably benign |
Het |
| Rpl13a-ps1 |
C |
T |
19: 50,018,868 (GRCm39) |
E103K |
probably benign |
Het |
| Rpl18a |
A |
T |
8: 71,348,864 (GRCm39) |
H37Q |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,774,718 (GRCm39) |
S2301T |
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,660 (GRCm39) |
D2E |
possibly damaging |
Het |
| Slco5a1 |
C |
T |
1: 13,060,158 (GRCm39) |
V188I |
probably benign |
Het |
| Son |
T |
A |
16: 91,454,547 (GRCm39) |
M1098K |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,983,726 (GRCm39) |
D701G |
probably damaging |
Het |
| Ssmem1 |
T |
C |
6: 30,512,495 (GRCm39) |
F46S |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,441,803 (GRCm39) |
R1938W |
probably damaging |
Het |
| Sstr3 |
T |
C |
15: 78,424,121 (GRCm39) |
I209V |
probably benign |
Het |
| Tlk2 |
A |
G |
11: 105,100,656 (GRCm39) |
Y87C |
probably damaging |
Het |
| Traf4 |
G |
A |
11: 78,051,002 (GRCm39) |
R385W |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,888,780 (GRCm39) |
V1962M |
probably benign |
Het |
| Tspan12 |
T |
G |
6: 21,835,506 (GRCm39) |
I56L |
probably benign |
Het |
| Upp2 |
T |
A |
2: 58,653,674 (GRCm39) |
|
probably null |
Het |
| Vps13b |
T |
C |
15: 35,869,457 (GRCm39) |
W2654R |
probably damaging |
Het |
| Zc3h18 |
C |
T |
8: 123,129,926 (GRCm39) |
R435* |
probably null |
Het |
| Zfta |
T |
C |
19: 7,399,609 (GRCm39) |
I247T |
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 |
121,764,104 (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 |
|
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'- TTTCTAGAGATCTGCCTGCAG -3'
(R):5'- TTCTTGCTTTGCCATGACTGAG -3'
Sequencing Primer
(F):5'- CTGCAGGGGATCAGCCATAG -3'
(R):5'- AGCCTCAGGTACCATGTTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation