Incidental Mutation 'IGL02191:Cyp2a12'
ID |
283880 |
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 # |
IGL02191
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26728515-26736243 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26736036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 482
(I482V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074990
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075552]
|
AlphaFold |
P56593 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075552
AA Change: I482V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000074990 Gene: ENSMUSG00000060407 AA Change: I482V
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
Tmem144 |
A |
T |
3: 79,734,159 (GRCm39) |
D181E |
possibly damaging |
Het |
Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
Other mutations in Cyp2a12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02306:Cyp2a12
|
APN |
7 |
26,732,008 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02667:Cyp2a12
|
APN |
7 |
26,730,583 (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 |