Incidental Mutation 'IGL03283:Cyp4a32'
ID |
415640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp4a32
|
Ensembl Gene |
ENSMUSG00000063929 |
Gene Name |
cytochrome P450, family 4, subfamily a, polypeptide 32 |
Synonyms |
OTTMUSG00000008689 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL03283
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
115458166-115478799 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 115468280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 283
(K283N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084342]
|
AlphaFold |
A2A8T1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084342
AA Change: K283N
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000081369 Gene: ENSMUSG00000063929 AA Change: K283N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
15 |
32 |
N/A |
INTRINSIC |
Pfam:p450
|
51 |
504 |
1.3e-133 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129918
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bicdl2 |
A |
G |
17: 23,886,155 (GRCm39) |
E361G |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,286,158 (GRCm39) |
D236G |
possibly damaging |
Het |
Cep76 |
A |
T |
18: 67,773,139 (GRCm39) |
I53N |
possibly damaging |
Het |
Cfap43 |
A |
G |
19: 47,779,851 (GRCm39) |
|
probably benign |
Het |
Champ1 |
T |
C |
8: 13,928,786 (GRCm39) |
S315P |
probably benign |
Het |
Ctdsp2 |
A |
G |
10: 126,832,266 (GRCm39) |
T91A |
probably benign |
Het |
Dgki |
A |
G |
6: 36,914,246 (GRCm39) |
|
probably benign |
Het |
Fads2b |
A |
C |
2: 85,320,751 (GRCm39) |
F351V |
probably damaging |
Het |
Gabrr2 |
A |
G |
4: 33,082,364 (GRCm39) |
|
probably benign |
Het |
Garin4 |
C |
T |
1: 190,895,029 (GRCm39) |
R538H |
probably benign |
Het |
Gm5414 |
G |
T |
15: 101,535,522 (GRCm39) |
Q188K |
probably damaging |
Het |
Grik2 |
A |
T |
10: 49,454,365 (GRCm39) |
M50K |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,367,518 (GRCm39) |
M2980V |
probably benign |
Het |
Pafah2 |
C |
T |
4: 134,145,408 (GRCm39) |
T264M |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,343,996 (GRCm39) |
M2552V |
possibly damaging |
Het |
Usp3 |
C |
T |
9: 66,469,831 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cyp4a32 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02225:Cyp4a32
|
APN |
4 |
115,467,700 (GRCm39) |
missense |
probably benign |
|
IGL02546:Cyp4a32
|
APN |
4 |
115,468,520 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02578:Cyp4a32
|
APN |
4 |
115,466,939 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02663:Cyp4a32
|
APN |
4 |
115,467,787 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02832:Cyp4a32
|
APN |
4 |
115,471,818 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03357:Cyp4a32
|
APN |
4 |
115,468,798 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03406:Cyp4a32
|
APN |
4 |
115,459,500 (GRCm39) |
missense |
probably benign |
0.00 |
R0379:Cyp4a32
|
UTSW |
4 |
115,478,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1339:Cyp4a32
|
UTSW |
4 |
115,468,760 (GRCm39) |
missense |
probably damaging |
0.98 |
R1435:Cyp4a32
|
UTSW |
4 |
115,463,863 (GRCm39) |
missense |
probably damaging |
0.97 |
R1445:Cyp4a32
|
UTSW |
4 |
115,460,147 (GRCm39) |
nonsense |
probably null |
|
R1520:Cyp4a32
|
UTSW |
4 |
115,471,849 (GRCm39) |
missense |
probably damaging |
0.97 |
R1587:Cyp4a32
|
UTSW |
4 |
115,467,731 (GRCm39) |
missense |
probably benign |
0.06 |
R1719:Cyp4a32
|
UTSW |
4 |
115,468,505 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1932:Cyp4a32
|
UTSW |
4 |
115,468,474 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4184:Cyp4a32
|
UTSW |
4 |
115,478,720 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4580:Cyp4a32
|
UTSW |
4 |
115,460,126 (GRCm39) |
splice site |
silent |
|
R5004:Cyp4a32
|
UTSW |
4 |
115,458,238 (GRCm39) |
missense |
probably damaging |
0.98 |
R6345:Cyp4a32
|
UTSW |
4 |
115,459,560 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7231:Cyp4a32
|
UTSW |
4 |
115,466,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Cyp4a32
|
UTSW |
4 |
115,459,499 (GRCm39) |
missense |
probably benign |
|
R7419:Cyp4a32
|
UTSW |
4 |
115,468,234 (GRCm39) |
missense |
probably benign |
|
R7716:Cyp4a32
|
UTSW |
4 |
115,458,283 (GRCm39) |
missense |
probably damaging |
1.00 |
R8921:Cyp4a32
|
UTSW |
4 |
115,468,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R9009:Cyp4a32
|
UTSW |
4 |
115,467,802 (GRCm39) |
missense |
probably null |
1.00 |
R9266:Cyp4a32
|
UTSW |
4 |
115,468,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R9330:Cyp4a32
|
UTSW |
4 |
115,478,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Cyp4a32
|
UTSW |
4 |
115,467,699 (GRCm39) |
missense |
probably benign |
|
R9442:Cyp4a32
|
UTSW |
4 |
115,468,422 (GRCm39) |
missense |
probably benign |
0.21 |
Z1177:Cyp4a32
|
UTSW |
4 |
115,468,542 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2016-08-02 |