Incidental Mutation 'R6729:Acad12'
ID |
529969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acad12
|
Ensembl Gene |
ENSMUSG00000042647 |
Gene Name |
acyl-Coenzyme A dehydrogenase family, member 12 |
Synonyms |
9330129D05Rik |
MMRRC Submission |
044847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6729 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
121736340-121757001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121745998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 230
(H230Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041252]
[ENSMUST00000111776]
[ENSMUST00000197916]
|
AlphaFold |
D3Z7X0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041252
AA Change: H230Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046497 Gene: ENSMUSG00000042647 AA Change: H230Q
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 damaging
Transcript: ENSMUST00000111776
AA Change: H230Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107406 Gene: ENSMUSG00000042647 AA Change: H230Q
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 |
probably benign
Transcript: ENSMUST00000131338
|
SMART Domains |
Protein: ENSMUSP00000121904 Gene: ENSMUSG00000042647
Domain | Start | End | E-Value | Type |
PDB:2WBI|B
|
2 |
92 |
2e-26 |
PDB |
SCOP:d1is2a3
|
3 |
58 |
3e-11 |
SMART |
|
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 |
0.6057 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI182371 |
G |
T |
2: 34,974,717 (GRCm39) |
|
probably benign |
Het |
Ank3 |
T |
C |
10: 69,644,755 (GRCm39) |
V73A |
probably damaging |
Het |
Apbb1 |
A |
T |
7: 105,214,588 (GRCm39) |
M28K |
probably damaging |
Het |
Atp6v1f |
A |
G |
6: 29,467,964 (GRCm39) |
D50G |
probably benign |
Het |
Bltp3b |
T |
A |
10: 89,641,546 (GRCm39) |
S906T |
probably benign |
Het |
Cdkal1 |
G |
A |
13: 29,658,678 (GRCm39) |
T356M |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,711,727 (GRCm39) |
I756T |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,218,085 (GRCm39) |
|
probably null |
Het |
Cyp17a1 |
A |
G |
19: 46,659,020 (GRCm39) |
V207A |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,711,681 (GRCm39) |
E2636G |
possibly damaging |
Het |
Gm13090 |
A |
T |
4: 151,174,085 (GRCm39) |
|
probably benign |
Het |
Nceh1 |
T |
A |
3: 27,295,420 (GRCm39) |
L227* |
probably null |
Het |
Nedd9 |
A |
G |
13: 41,469,278 (GRCm39) |
M625T |
probably damaging |
Het |
Or10n1 |
A |
T |
9: 39,525,069 (GRCm39) |
M69L |
probably benign |
Het |
Or4d1 |
G |
A |
11: 87,805,676 (GRCm39) |
Q19* |
probably null |
Het |
Or4d10c |
T |
A |
19: 12,065,860 (GRCm39) |
M99L |
probably benign |
Het |
Or8b53 |
A |
G |
9: 38,667,124 (GRCm39) |
I47V |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,160,935 (GRCm39) |
N297S |
probably damaging |
Het |
Psg21 |
T |
A |
7: 18,386,516 (GRCm39) |
I157F |
probably damaging |
Het |
Rabep2 |
T |
C |
7: 126,039,369 (GRCm39) |
V294A |
probably benign |
Het |
Rsph1 |
A |
G |
17: 31,496,226 (GRCm39) |
S2P |
unknown |
Het |
Sacs |
A |
G |
14: 61,447,967 (GRCm39) |
K3338E |
probably damaging |
Het |
Slc35f4 |
T |
G |
14: 49,556,417 (GRCm39) |
N112T |
probably benign |
Het |
Slc43a3 |
T |
C |
2: 84,768,629 (GRCm39) |
F83L |
probably damaging |
Het |
Slc6a15 |
T |
C |
10: 103,229,775 (GRCm39) |
V154A |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,036,289 (GRCm39) |
M1K |
probably null |
Het |
Tcp1 |
G |
A |
17: 13,142,140 (GRCm39) |
R378Q |
probably damaging |
Het |
Tead2 |
A |
G |
7: 44,866,658 (GRCm39) |
T6A |
probably benign |
Het |
Tpte |
G |
T |
8: 22,845,491 (GRCm39) |
V514L |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,807,661 (GRCm39) |
N1069D |
probably damaging |
Het |
Vmn2r105 |
C |
A |
17: 20,428,605 (GRCm39) |
G824C |
probably damaging |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zfp934 |
A |
T |
13: 62,640,746 (GRCm39) |
N2K |
probably damaging |
Het |
|
Other mutations in Acad12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00328:Acad12
|
APN |
5 |
121,742,316 (GRCm39) |
unclassified |
probably benign |
|
IGL02968:Acad12
|
APN |
5 |
121,748,101 (GRCm39) |
missense |
probably benign |
0.17 |
IGL03046:Acad12
|
UTSW |
5 |
121,748,029 (GRCm39) |
missense |
probably benign |
0.00 |
R0085:Acad12
|
UTSW |
5 |
121,742,357 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0538:Acad12
|
UTSW |
5 |
121,745,511 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1424:Acad12
|
UTSW |
5 |
121,742,385 (GRCm39) |
missense |
probably benign |
0.01 |
R1754:Acad12
|
UTSW |
5 |
121,745,544 (GRCm39) |
missense |
probably benign |
0.08 |
R1975:Acad12
|
UTSW |
5 |
121,742,322 (GRCm39) |
missense |
probably benign |
|
R3916:Acad12
|
UTSW |
5 |
121,737,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R3917:Acad12
|
UTSW |
5 |
121,737,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R4531:Acad12
|
UTSW |
5 |
121,736,964 (GRCm39) |
missense |
probably benign |
|
R4531:Acad12
|
UTSW |
5 |
121,736,962 (GRCm39) |
missense |
probably benign |
|
R4676:Acad12
|
UTSW |
5 |
121,745,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Acad12
|
UTSW |
5 |
121,748,152 (GRCm39) |
missense |
probably benign |
0.00 |
R5166:Acad12
|
UTSW |
5 |
121,738,083 (GRCm39) |
missense |
probably benign |
0.04 |
R5286:Acad12
|
UTSW |
5 |
121,742,358 (GRCm39) |
missense |
probably benign |
0.27 |
R5641:Acad12
|
UTSW |
5 |
121,742,084 (GRCm39) |
unclassified |
probably benign |
|
R5716:Acad12
|
UTSW |
5 |
121,748,046 (GRCm39) |
missense |
probably benign |
0.00 |
R5761:Acad12
|
UTSW |
5 |
121,742,243 (GRCm39) |
unclassified |
probably benign |
|
R6006:Acad12
|
UTSW |
5 |
121,737,299 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6256:Acad12
|
UTSW |
5 |
121,752,149 (GRCm39) |
missense |
probably benign |
0.05 |
R6785:Acad12
|
UTSW |
5 |
121,747,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Acad12
|
UTSW |
5 |
121,745,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Acad12
|
UTSW |
5 |
121,745,257 (GRCm39) |
nonsense |
probably null |
|
R8383:Acad12
|
UTSW |
5 |
121,745,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R8473:Acad12
|
UTSW |
5 |
121,745,538 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Acad12
|
UTSW |
5 |
121,737,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCATAGGAGTTTCCAGCTGTG -3'
(R):5'- AGATGGATAATACCACTTCTGGC -3'
Sequencing Primer
(F):5'- TGTGGCGCCCTGAGATG -3'
(R):5'- ACCACTTCTGGCCAAATTTTTATTG -3'
|
Posted On |
2018-08-01 |