Incidental Mutation 'IGL00538:Cyp3a41b'
ID |
10006 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp3a41b
|
Ensembl Gene |
ENSMUSG00000075552 |
Gene Name |
cytochrome P450, family 3, subfamily a, polypeptide 41B |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00538
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
145495474-145521540 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 145515010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075837]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075837
|
SMART Domains |
Protein: ENSMUSP00000075234 Gene: ENSMUSG00000075552
Domain | Start | End | E-Value | Type |
Pfam:p450
|
38 |
494 |
1.7e-136 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl9 |
T |
A |
5: 77,151,903 (GRCm39) |
M1K |
probably null |
Het |
Asf1a |
T |
C |
10: 53,482,227 (GRCm39) |
L13P |
probably damaging |
Het |
Atg2b |
T |
G |
12: 105,611,175 (GRCm39) |
H1252P |
probably benign |
Het |
Cacna2d1 |
C |
T |
5: 16,451,783 (GRCm39) |
R216* |
probably null |
Het |
Cdc42ep3 |
G |
A |
17: 79,642,884 (GRCm39) |
A12V |
possibly damaging |
Het |
Cntn3 |
G |
A |
6: 102,397,223 (GRCm39) |
Q117* |
probably null |
Het |
Dhx36 |
T |
C |
3: 62,408,466 (GRCm39) |
E124G |
probably benign |
Het |
Galnt7 |
T |
A |
8: 58,005,556 (GRCm39) |
T226S |
possibly damaging |
Het |
H2al3 |
T |
A |
X: 9,716,244 (GRCm39) |
|
probably benign |
Het |
Ighv1-7 |
C |
A |
12: 114,502,381 (GRCm39) |
E29* |
probably null |
Het |
Iqcb1 |
G |
T |
16: 36,678,948 (GRCm39) |
V421F |
probably benign |
Het |
Lrrc8c |
G |
A |
5: 105,755,076 (GRCm39) |
V284I |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
Samd9l |
A |
T |
6: 3,376,779 (GRCm39) |
Y161N |
probably damaging |
Het |
Slc14a1 |
A |
T |
18: 78,147,288 (GRCm39) |
F313Y |
probably damaging |
Het |
Taco1 |
T |
A |
11: 105,962,805 (GRCm39) |
I164N |
probably damaging |
Het |
Tenm3 |
G |
T |
8: 48,689,060 (GRCm39) |
H2176N |
probably damaging |
Het |
Tmem156 |
T |
C |
5: 65,231,183 (GRCm39) |
Y165C |
probably damaging |
Het |
Trpc7 |
A |
T |
13: 56,921,622 (GRCm39) |
N731K |
possibly damaging |
Het |
Ubox5 |
T |
C |
2: 130,441,808 (GRCm39) |
N293S |
probably damaging |
Het |
|
Other mutations in Cyp3a41b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02341:Cyp3a41b
|
APN |
5 |
145,510,461 (GRCm39) |
missense |
probably benign |
0.34 |
R0284:Cyp3a41b
|
UTSW |
5 |
145,515,014 (GRCm39) |
splice site |
probably benign |
|
R1857:Cyp3a41b
|
UTSW |
5 |
145,503,660 (GRCm39) |
missense |
probably benign |
0.06 |
R2269:Cyp3a41b
|
UTSW |
5 |
145,514,976 (GRCm39) |
missense |
probably benign |
0.10 |
R2360:Cyp3a41b
|
UTSW |
5 |
145,507,221 (GRCm39) |
missense |
probably benign |
|
R4299:Cyp3a41b
|
UTSW |
5 |
145,510,487 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4801:Cyp3a41b
|
UTSW |
5 |
145,510,461 (GRCm39) |
missense |
probably benign |
0.34 |
R4802:Cyp3a41b
|
UTSW |
5 |
145,510,461 (GRCm39) |
missense |
probably benign |
0.34 |
R5911:Cyp3a41b
|
UTSW |
5 |
145,519,349 (GRCm39) |
missense |
probably benign |
0.01 |
R6363:Cyp3a41b
|
UTSW |
5 |
145,507,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7198:Cyp3a41b
|
UTSW |
5 |
145,519,330 (GRCm39) |
missense |
probably benign |
0.00 |
R7410:Cyp3a41b
|
UTSW |
5 |
145,514,967 (GRCm39) |
missense |
probably damaging |
0.99 |
R8221:Cyp3a41b
|
UTSW |
5 |
145,506,190 (GRCm39) |
missense |
probably benign |
0.01 |
R8923:Cyp3a41b
|
UTSW |
5 |
145,521,448 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9064:Cyp3a41b
|
UTSW |
5 |
145,514,910 (GRCm39) |
missense |
probably damaging |
0.97 |
R9091:Cyp3a41b
|
UTSW |
5 |
145,514,973 (GRCm39) |
missense |
probably damaging |
0.99 |
R9270:Cyp3a41b
|
UTSW |
5 |
145,514,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |