Incidental Mutation 'R3824:Acad10'
| ID |
275271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad10
|
| Ensembl Gene |
ENSMUSG00000029456 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 10 |
| Synonyms |
2410021P16Rik |
| MMRRC Submission |
040885-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3824 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121621026-121660514 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121622818 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 941
(M941K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031412]
[ENSMUST00000041252]
[ENSMUST00000111770]
[ENSMUST00000111776]
[ENSMUST00000197916]
|
| AlphaFold |
Q8K370 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031412
AA Change: M941K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456
AA Change: M941K
| 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: ENSMUST00000041252
|
| SMART Domains |
Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
151 |
278 |
7e-16 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
282 |
383 |
1.9e-18 |
PFAM |
|
Pfam:Acyl-CoA_dh_1
|
395 |
536 |
1.5e-27 |
PFAM |
|
Pfam:Acyl-CoA_dh_2
|
411 |
526 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111770
AA Change: M941K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456
AA Change: M941K
| 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 |
probably benign
Transcript: ENSMUST00000111776
|
| SMART Domains |
Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acyl-CoA_dh_N
|
151 |
278 |
1.9e-15 |
PFAM |
|
Pfam:Acyl-CoA_dh_M
|
282 |
336 |
1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133775
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197916
|
| SMART Domains |
Protein: ENSMUSP00000142370
Gene: ENSMUSG00000042647
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1j97a_
|
40 |
67 |
1e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (62/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,567,611 (GRCm38) |
C20R |
probably benign |
Het |
| 6030468B19Rik |
A |
G |
11: 117,802,913 (GRCm38) |
K69E |
probably damaging |
Het |
| 9430015G10Rik |
T |
A |
4: 156,119,150 (GRCm38) |
|
probably null |
Het |
| A2ml1 |
A |
G |
6: 128,568,763 (GRCm38) |
V467A |
probably damaging |
Het |
| Abcc3 |
T |
C |
11: 94,368,620 (GRCm38) |
|
probably null |
Het |
| Agrn |
A |
G |
4: 156,169,302 (GRCm38) |
L1649P |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,061,930 (GRCm38) |
R402G |
possibly damaging |
Het |
| Atp4b |
T |
C |
8: 13,393,549 (GRCm38) |
Y43C |
probably damaging |
Het |
| Btn2a2 |
T |
A |
13: 23,480,465 (GRCm38) |
T308S |
probably benign |
Het |
| C8b |
G |
T |
4: 104,783,009 (GRCm38) |
A170S |
probably benign |
Het |
| Cabyr |
T |
A |
18: 12,751,690 (GRCm38) |
D411E |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,484,483 (GRCm38) |
|
probably benign |
Het |
| Cd200r4 |
T |
C |
16: 44,820,950 (GRCm38) |
F19L |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,735,697 (GRCm38) |
Y218N |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,054,180 (GRCm38) |
Y630H |
probably damaging |
Het |
| Coq6 |
T |
C |
12: 84,372,415 (GRCm38) |
|
probably benign |
Het |
| Drg2 |
A |
G |
11: 60,459,508 (GRCm38) |
T98A |
possibly damaging |
Het |
| Fam205c |
A |
G |
4: 42,873,492 (GRCm38) |
|
probably null |
Het |
| Fry |
T |
A |
5: 150,496,419 (GRCm38) |
S1015R |
possibly damaging |
Het |
| Gjb4 |
A |
G |
4: 127,351,429 (GRCm38) |
S240P |
probably benign |
Het |
| Glmp |
G |
A |
3: 88,326,411 (GRCm38) |
V107I |
probably damaging |
Het |
| Gls |
A |
C |
1: 52,232,988 (GRCm38) |
M2R |
possibly damaging |
Het |
| Gm13078 |
A |
T |
4: 143,726,685 (GRCm38) |
H121L |
probably benign |
Het |
| Gm5724 |
T |
C |
6: 141,754,374 (GRCm38) |
Q144R |
possibly damaging |
Het |
| Gm906 |
G |
A |
13: 50,245,512 (GRCm38) |
S926F |
possibly damaging |
Het |
| Igfbp4 |
A |
G |
11: 99,048,235 (GRCm38) |
E27G |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,225,621 (GRCm38) |
Y645* |
probably null |
Het |
| Kat6a |
G |
T |
8: 22,862,364 (GRCm38) |
V55F |
probably damaging |
Het |
| Kat8 |
T |
A |
7: 127,924,482 (GRCm38) |
D292E |
possibly damaging |
Het |
| Myo19 |
T |
A |
11: 84,885,679 (GRCm38) |
C54S |
probably damaging |
Het |
| Myo5b |
C |
T |
18: 74,661,655 (GRCm38) |
H532Y |
probably benign |
Het |
| Nckap1 |
T |
C |
2: 80,540,560 (GRCm38) |
K357E |
possibly damaging |
Het |
| Ndufaf1 |
C |
T |
2: 119,660,271 (GRCm38) |
V105M |
probably benign |
Het |
| Olfr1076 |
T |
G |
2: 86,509,023 (GRCm38) |
L188R |
possibly damaging |
Het |
| Olfr1394 |
A |
G |
11: 49,160,793 (GRCm38) |
S260G |
possibly damaging |
Het |
| Olfr888 |
A |
T |
9: 38,108,838 (GRCm38) |
I51F |
possibly damaging |
Het |
| Olfr895 |
T |
G |
9: 38,268,518 (GRCm38) |
S2A |
probably benign |
Het |
| Olfr904 |
T |
A |
9: 38,464,526 (GRCm38) |
C162S |
probably benign |
Het |
| Palld |
T |
C |
8: 61,709,033 (GRCm38) |
D439G |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,659,620 (GRCm38) |
|
probably benign |
Het |
| Pigo |
A |
T |
4: 43,020,909 (GRCm38) |
W678R |
possibly damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,583,271 (GRCm38) |
|
probably null |
Het |
| Plscr3 |
G |
A |
11: 69,850,138 (GRCm38) |
V267M |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,535,673 (GRCm38) |
|
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,565,378 (GRCm38) |
I1049T |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,350,789 (GRCm38) |
I1743F |
probably benign |
Het |
| Ptprm |
A |
G |
17: 66,809,575 (GRCm38) |
V894A |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,802,304 (GRCm38) |
T105A |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,860,446 (GRCm38) |
T354I |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 141,936,049 (GRCm38) |
T267A |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,722,956 (GRCm38) |
D653E |
probably damaging |
Het |
| St8sia1 |
A |
G |
6: 142,829,025 (GRCm38) |
L276P |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,294,363 (GRCm38) |
V396A |
possibly damaging |
Het |
| Taok3 |
A |
G |
5: 117,255,937 (GRCm38) |
T592A |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,685,039 (GRCm38) |
I236F |
possibly damaging |
Het |
| Tas2r107 |
A |
C |
6: 131,659,330 (GRCm38) |
I252S |
probably benign |
Het |
| Tmem259 |
T |
C |
10: 79,978,448 (GRCm38) |
N334S |
possibly damaging |
Het |
| Tsga10 |
A |
T |
1: 37,834,197 (GRCm38) |
N200K |
possibly damaging |
Het |
| Usp24 |
G |
A |
4: 106,379,066 (GRCm38) |
V984I |
probably benign |
Het |
| Vmn1r189 |
T |
A |
13: 22,102,212 (GRCm38) |
T152S |
probably benign |
Het |
| Vmn1r2 |
A |
T |
4: 3,172,413 (GRCm38) |
T111S |
probably damaging |
Het |
| Vmn2r74 |
T |
G |
7: 85,958,258 (GRCm38) |
N86H |
probably damaging |
Het |
| Zfp12 |
T |
C |
5: 143,240,322 (GRCm38) |
V72A |
probably benign |
Het |
|
| Other mutations in Acad10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02379:Acad10
|
APN |
5 |
121,622,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02469:Acad10
|
APN |
5 |
121,645,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02526:Acad10
|
APN |
5 |
121,646,860 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02623:Acad10
|
APN |
5 |
121,629,930 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02643:Acad10
|
APN |
5 |
121,631,570 (GRCm38) |
missense |
probably benign |
|
|
IGL02685:Acad10
|
APN |
5 |
121,632,609 (GRCm38) |
missense |
probably benign |
|
|
IGL03139:Acad10
|
APN |
5 |
121,626,082 (GRCm38) |
missense |
probably benign |
|
|
IGL03267:Acad10
|
APN |
5 |
121,637,349 (GRCm38) |
missense |
probably benign |
0.34 |
|
P0026:Acad10
|
UTSW |
5 |
121,637,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0099:Acad10
|
UTSW |
5 |
121,621,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0453:Acad10
|
UTSW |
5 |
121,627,382 (GRCm38) |
nonsense |
probably null |
|
|
R1051:Acad10
|
UTSW |
5 |
121,626,080 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1052:Acad10
|
UTSW |
5 |
121,649,541 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1116:Acad10
|
UTSW |
5 |
121,630,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1548:Acad10
|
UTSW |
5 |
121,626,041 (GRCm38) |
splice site |
probably benign |
|
|
R1548:Acad10
|
UTSW |
5 |
121,626,040 (GRCm38) |
splice site |
probably benign |
|
|
R1571:Acad10
|
UTSW |
5 |
121,621,348 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1592:Acad10
|
UTSW |
5 |
121,645,381 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1741:Acad10
|
UTSW |
5 |
121,647,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1789:Acad10
|
UTSW |
5 |
121,631,393 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1974:Acad10
|
UTSW |
5 |
121,626,185 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2007:Acad10
|
UTSW |
5 |
121,634,751 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2085:Acad10
|
UTSW |
5 |
121,649,460 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R2351:Acad10
|
UTSW |
5 |
121,629,927 (GRCm38) |
missense |
probably benign |
0.23 |
|
R2511:Acad10
|
UTSW |
5 |
121,631,567 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2570:Acad10
|
UTSW |
5 |
121,630,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3846:Acad10
|
UTSW |
5 |
121,634,686 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4106:Acad10
|
UTSW |
5 |
121,631,464 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4107:Acad10
|
UTSW |
5 |
121,631,464 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4108:Acad10
|
UTSW |
5 |
121,631,464 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5569:Acad10
|
UTSW |
5 |
121,626,080 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5704:Acad10
|
UTSW |
5 |
121,631,543 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5845:Acad10
|
UTSW |
5 |
121,626,083 (GRCm38) |
missense |
probably benign |
|
|
R5990:Acad10
|
UTSW |
5 |
121,645,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6019:Acad10
|
UTSW |
5 |
121,634,801 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6145:Acad10
|
UTSW |
5 |
121,622,033 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6384:Acad10
|
UTSW |
5 |
121,652,003 (GRCm38) |
missense |
probably benign |
0.43 |
|
R6491:Acad10
|
UTSW |
5 |
121,630,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6608:Acad10
|
UTSW |
5 |
121,632,492 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6941:Acad10
|
UTSW |
5 |
121,649,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7221:Acad10
|
UTSW |
5 |
121,630,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7283:Acad10
|
UTSW |
5 |
121,649,475 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7355:Acad10
|
UTSW |
5 |
121,630,717 (GRCm38) |
nonsense |
probably null |
|
|
R7483:Acad10
|
UTSW |
5 |
121,656,012 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7553:Acad10
|
UTSW |
5 |
121,639,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7721:Acad10
|
UTSW |
5 |
121,646,866 (GRCm38) |
splice site |
probably null |
|
|
R8075:Acad10
|
UTSW |
5 |
121,652,085 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8400:Acad10
|
UTSW |
5 |
121,626,205 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9171:Acad10
|
UTSW |
5 |
121,629,918 (GRCm38) |
missense |
probably benign |
0.14 |
|
X0061:Acad10
|
UTSW |
5 |
121,622,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCCACAGTTTGCCAAAC -3'
(R):5'- CTGCATTGCCTACCTCAGAC -3'
Sequencing Primer
(F):5'- AGGTAGATTCCAGTGTCACCTCAG -3'
(R):5'- GACCCTCAACCCCAGTTAGCTG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation