Incidental Mutation 'IGL02667:Cyp2a12'
| ID |
302764 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2a12
|
| Ensembl Gene |
ENSMUSG00000060407 |
| Gene Name |
cytochrome P450, family 2, subfamily a, polypeptide 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26728515-26736243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26730583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 183
(S183P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075552]
|
| AlphaFold |
P56593 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075552
AA Change: S183P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074990
Gene: ENSMUSG00000060407
AA Change: S183P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:p450
|
33 |
489 |
7.3e-153 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207016
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6530409C15Rik |
A |
G |
6: 28,217,670 (GRCm39) |
|
noncoding transcript |
Het |
| Akr1e1 |
G |
A |
13: 4,645,666 (GRCm39) |
P174L |
possibly damaging |
Het |
| Arf5 |
C |
A |
6: 28,425,198 (GRCm39) |
N95K |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,486,781 (GRCm39) |
F39L |
possibly damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Dicer1 |
T |
A |
12: 104,681,165 (GRCm39) |
R449S |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,956,534 (GRCm39) |
I736T |
probably benign |
Het |
| Eny2 |
T |
A |
15: 44,292,984 (GRCm39) |
M12K |
possibly damaging |
Het |
| Fbxl21 |
C |
T |
13: 56,684,942 (GRCm39) |
R349C |
probably benign |
Het |
| Gstm2 |
A |
G |
3: 107,893,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Gucy2g |
G |
A |
19: 55,194,609 (GRCm39) |
T936M |
possibly damaging |
Het |
| Mbp |
G |
T |
18: 82,572,740 (GRCm39) |
K12N |
probably damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,748,678 (GRCm39) |
|
probably benign |
Het |
| Nr2f2 |
T |
C |
7: 70,007,733 (GRCm39) |
S117G |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,907,947 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,113,325 (GRCm39) |
F1504L |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,111 (GRCm39) |
W239R |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,295,560 (GRCm39) |
S1043T |
unknown |
Het |
| Tgfbrap1 |
T |
C |
1: 43,106,780 (GRCm39) |
I298V |
probably benign |
Het |
| Tmem190 |
T |
A |
7: 4,786,157 (GRCm39) |
D20E |
probably benign |
Het |
| Tph2 |
A |
T |
10: 114,915,950 (GRCm39) |
C408S |
probably benign |
Het |
| Trmt44 |
A |
C |
5: 35,728,396 (GRCm39) |
Y295D |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,415,905 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,880,463 (GRCm39) |
E134G |
probably damaging |
Het |
|
| Other mutations in Cyp2a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:Cyp2a12
|
APN |
7 |
26,736,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02306:Cyp2a12
|
APN |
7 |
26,732,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Cyp2a12
|
APN |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03025:Cyp2a12
|
APN |
7 |
26,730,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03230:Cyp2a12
|
APN |
7 |
26,729,017 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
PIT4243001:Cyp2a12
|
UTSW |
7 |
26,734,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4618001:Cyp2a12
|
UTSW |
7 |
26,734,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Cyp2a12
|
UTSW |
7 |
26,736,046 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0659:Cyp2a12
|
UTSW |
7 |
26,733,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0743:Cyp2a12
|
UTSW |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0884:Cyp2a12
|
UTSW |
7 |
26,731,967 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2118:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2119:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2120:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2121:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2122:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2124:Cyp2a12
|
UTSW |
7 |
26,736,071 (GRCm39) |
makesense |
probably null |
|
|
R2144:Cyp2a12
|
UTSW |
7 |
26,734,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2153:Cyp2a12
|
UTSW |
7 |
26,732,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2171:Cyp2a12
|
UTSW |
7 |
26,729,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2182:Cyp2a12
|
UTSW |
7 |
26,730,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Cyp2a12
|
UTSW |
7 |
26,734,057 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4392:Cyp2a12
|
UTSW |
7 |
26,728,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4900:Cyp2a12
|
UTSW |
7 |
26,730,640 (GRCm39) |
nonsense |
probably null |
|
|
R4960:Cyp2a12
|
UTSW |
7 |
26,733,575 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5111:Cyp2a12
|
UTSW |
7 |
26,736,046 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5143:Cyp2a12
|
UTSW |
7 |
26,736,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5223:Cyp2a12
|
UTSW |
7 |
26,735,888 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5268:Cyp2a12
|
UTSW |
7 |
26,730,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5493:Cyp2a12
|
UTSW |
7 |
26,728,550 (GRCm39) |
missense |
unknown |
|
|
R5524:Cyp2a12
|
UTSW |
7 |
26,730,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Cyp2a12
|
UTSW |
7 |
26,728,504 (GRCm39) |
splice site |
probably null |
|
|
R6320:Cyp2a12
|
UTSW |
7 |
26,730,577 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6823:Cyp2a12
|
UTSW |
7 |
26,733,581 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7958:Cyp2a12
|
UTSW |
7 |
26,728,677 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8093:Cyp2a12
|
UTSW |
7 |
26,736,054 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8191:Cyp2a12
|
UTSW |
7 |
26,730,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Cyp2a12
|
UTSW |
7 |
26,732,083 (GRCm39) |
nonsense |
probably null |
|
|
R9083:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9084:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9086:Cyp2a12
|
UTSW |
7 |
26,735,944 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF021:Cyp2a12
|
UTSW |
7 |
26,734,785 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1088:Cyp2a12
|
UTSW |
7 |
26,734,845 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2015-04-16 |
Incidental Mutation