Incidental Mutation 'IGL02968:Acad12'
| ID |
365706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acad12
|
| Ensembl Gene |
ENSMUSG00000042647 |
| Gene Name |
acyl-Coenzyme A dehydrogenase family, member 12 |
| Synonyms |
9330129D05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL02968
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121736340-121757001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121748101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 106
(S106G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041252]
[ENSMUST00000111776]
[ENSMUST00000197916]
|
| AlphaFold |
D3Z7X0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041252
AA Change: S106G
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000046497
Gene: ENSMUSG00000042647
AA Change: S106G
| 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: ENSMUST00000111776
AA Change: S106G
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107406
Gene: ENSMUSG00000042647
AA Change: S106G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,900,454 (GRCm39) |
D441V |
probably damaging |
Het |
| Abcd1 |
T |
C |
X: 72,760,664 (GRCm39) |
S10P |
possibly damaging |
Het |
| C1s1 |
T |
C |
6: 124,517,310 (GRCm39) |
T127A |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,131,132 (GRCm39) |
V202A |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 47,009,230 (GRCm39) |
|
probably null |
Het |
| Dusp9 |
T |
C |
X: 72,685,039 (GRCm39) |
S222P |
probably benign |
Het |
| Exoc5 |
A |
G |
14: 49,270,726 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
G |
T |
6: 99,052,822 (GRCm39) |
A90D |
probably damaging |
Het |
| Krt12 |
G |
T |
11: 99,308,843 (GRCm39) |
A398E |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,828,364 (GRCm39) |
T183K |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,847,266 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,304,024 (GRCm39) |
E167G |
possibly damaging |
Het |
| Nos2 |
T |
C |
11: 78,828,463 (GRCm39) |
Y148H |
probably damaging |
Het |
| Or2t43 |
T |
C |
11: 58,458,021 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or51aa5 |
C |
T |
7: 103,167,466 (GRCm39) |
V42M |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,451 (GRCm39) |
F163I |
possibly damaging |
Het |
| Pde7a |
G |
A |
3: 19,297,285 (GRCm39) |
R122* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,700,382 (GRCm39) |
Y1851* |
probably null |
Het |
| Rbl1 |
C |
T |
2: 157,019,194 (GRCm39) |
R517H |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,383,947 (GRCm39) |
S661T |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,743,318 (GRCm39) |
D3886G |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,026 (GRCm39) |
Y412H |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,414,915 (GRCm39) |
S530P |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,442 (GRCm39) |
E131G |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,851 (GRCm39) |
A204E |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,249 (GRCm39) |
K413E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,849,068 (GRCm39) |
S2448P |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,983,641 (GRCm39) |
S634G |
probably benign |
Het |
| Zic1 |
G |
A |
9: 91,244,543 (GRCm39) |
T372M |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation