Incidental Mutation 'IGL00328:Acad12'
| ID |
6393 |
| 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 # |
IGL00328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
121736340-121757001 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 121742316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041252]
[ENSMUST00000111776]
[ENSMUST00000197916]
|
| AlphaFold |
D3Z7X0 |
| 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: 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 |
unknown
Transcript: ENSMUST00000131338
AA Change: V87I
|
| SMART Domains |
Protein: ENSMUSP00000121904
Gene: ENSMUSG00000042647
AA Change: V87I
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
T |
15: 102,247,809 (GRCm39) |
V378I |
possibly damaging |
Het |
| Bap1 |
T |
G |
14: 30,975,526 (GRCm39) |
S123R |
probably damaging |
Het |
| Cers2 |
A |
T |
3: 95,227,997 (GRCm39) |
K73I |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,545,635 (GRCm39) |
V240A |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,263,869 (GRCm39) |
R171* |
probably null |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,215,378 (GRCm39) |
I419T |
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,043,976 (GRCm39) |
R540G |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,298,424 (GRCm39) |
S2203R |
probably benign |
Het |
| Ptrh1 |
G |
T |
2: 32,666,353 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
A |
G |
18: 50,223,393 (GRCm39) |
E67G |
probably damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,807 (GRCm39) |
L242Q |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,905,344 (GRCm39) |
L165P |
probably benign |
Het |
|
| Other mutations in Acad12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation