Incidental Mutation 'R4531:Acad12'
| ID |
333110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acad12
|
| Ensembl Gene |
ENSMUSG00000042647 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 12 |
| Synonyms |
9330129D05Rik |
| MMRRC Submission |
041771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121736340-121757001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121736962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 526
(T526A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041252]
|
| AlphaFold |
D3Z7X0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041252
AA Change: T526A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
AA Change: T526A
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000197306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198656
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot3 |
T |
C |
7: 3,661,073 (GRCm39) |
V558A |
probably benign |
Het |
| Cntnap4 |
G |
A |
8: 113,537,240 (GRCm39) |
V704M |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,998 (GRCm39) |
D53G |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,137,072 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
T |
A |
15: 82,289,462 (GRCm39) |
T217S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,239,036 (GRCm39) |
T229A |
probably damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,961 (GRCm39) |
S408T |
possibly damaging |
Het |
| Eif1ad19 |
G |
A |
12: 87,740,314 (GRCm39) |
Q82* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,510,099 (GRCm39) |
F339L |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,062,938 (GRCm39) |
C413S |
probably benign |
Het |
| Kmo |
T |
C |
1: 175,487,273 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,020,215 (GRCm39) |
I1157V |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,898,700 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,479 (GRCm39) |
L203H |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,825,422 (GRCm39) |
D4657G |
unknown |
Het |
| Pgd |
T |
C |
4: 149,241,234 (GRCm39) |
K225R |
probably benign |
Het |
| Poli |
A |
T |
18: 70,650,548 (GRCm39) |
H297Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,909,715 (GRCm39) |
I668V |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,645 (GRCm39) |
S468P |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,691,790 (GRCm39) |
T3A |
probably benign |
Het |
| Trpc2 |
G |
T |
7: 101,745,205 (GRCm39) |
R807L |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vwce |
A |
C |
19: 10,641,710 (GRCm39) |
E812A |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,280,194 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
R6729:Acad12
|
UTSW |
5 |
121,745,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGAGCTCAGTCTCTCCAGAAAC -3'
(R):5'- ACAGTATGTCCCTTGTTCAGTGC -3'
Sequencing Primer
(F):5'- TCTTCTTGAAGAGACCCCAGGAG -3'
(R):5'- ATGTCCCTTGTTCAGTGCATTCTAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation