Incidental Mutation 'IGL02960:Cyp2b13'
| ID |
365298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2b13
|
| Ensembl Gene |
ENSMUSG00000040583 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 13 |
| Synonyms |
phenobarbital inducible, type c |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25760922-25795622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25761101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 53
(K53E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005669]
|
| AlphaFold |
A6H6J2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005669
AA Change: K53E
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: K53E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
488 |
9.8e-150 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,257 (GRCm39) |
R14C |
probably benign |
Het |
| Adam29 |
A |
T |
8: 56,325,701 (GRCm39) |
L251* |
probably null |
Het |
| Atpaf2 |
T |
C |
11: 60,296,650 (GRCm39) |
E161G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,858,666 (GRCm39) |
D381G |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,446,712 (GRCm39) |
R45* |
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,367,615 (GRCm39) |
E273G |
unknown |
Het |
| Cuzd1 |
T |
C |
7: 130,921,832 (GRCm39) |
N57D |
probably benign |
Het |
| Fadd |
T |
C |
7: 144,134,276 (GRCm39) |
E203G |
probably benign |
Het |
| Gm3159 |
G |
A |
14: 4,400,552 (GRCm38) |
|
probably null |
Het |
| Gpr137c |
T |
C |
14: 45,483,890 (GRCm39) |
F206L |
possibly damaging |
Het |
| Hephl1 |
G |
T |
9: 14,995,615 (GRCm39) |
T471N |
probably damaging |
Het |
| Ido1 |
A |
T |
8: 25,083,345 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,285,797 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,147,025 (GRCm39) |
L613H |
probably damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,534 (GRCm39) |
Y169H |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,149,155 (GRCm39) |
Q254R |
probably benign |
Het |
| Or4c15 |
A |
C |
2: 88,760,128 (GRCm39) |
M177R |
possibly damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,371 (GRCm39) |
I126N |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,900,078 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,447,670 (GRCm39) |
M2241K |
possibly damaging |
Het |
| Ptprd |
G |
A |
4: 76,047,105 (GRCm39) |
S387L |
probably damaging |
Het |
| Ryr1 |
A |
C |
7: 28,759,478 (GRCm39) |
L3264R |
probably damaging |
Het |
| Serpina16 |
G |
A |
12: 103,641,638 (GRCm39) |
T29I |
probably benign |
Het |
| Slc9a7 |
A |
G |
X: 20,052,382 (GRCm39) |
M237T |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,428,544 (GRCm39) |
T300A |
probably benign |
Het |
| Tcaf1 |
A |
C |
6: 42,663,393 (GRCm39) |
D162E |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,717,217 (GRCm39) |
|
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,947 (GRCm39) |
H398Q |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,389,389 (GRCm39) |
T303M |
probably benign |
Het |
| Vmn2r86 |
A |
C |
10: 130,289,636 (GRCm39) |
D86E |
possibly damaging |
Het |
| Zmym2 |
T |
A |
14: 57,175,870 (GRCm39) |
C822S |
probably benign |
Het |
| Zp3r |
T |
C |
1: 130,511,175 (GRCm39) |
D336G |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,849 (GRCm39) |
H82R |
probably damaging |
Het |
|
| Other mutations in Cyp2b13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Cyp2b13
|
APN |
7 |
25,781,152 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01134:Cyp2b13
|
APN |
7 |
25,781,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02386:Cyp2b13
|
APN |
7 |
25,785,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02531:Cyp2b13
|
APN |
7 |
25,761,030 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0018:Cyp2b13
|
UTSW |
7 |
25,785,375 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0018:Cyp2b13
|
UTSW |
7 |
25,785,375 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0103:Cyp2b13
|
UTSW |
7 |
25,788,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Cyp2b13
|
UTSW |
7 |
25,786,010 (GRCm39) |
missense |
probably benign |
|
|
R0392:Cyp2b13
|
UTSW |
7 |
25,785,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0540:Cyp2b13
|
UTSW |
7 |
25,781,136 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1887:Cyp2b13
|
UTSW |
7 |
25,788,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2416:Cyp2b13
|
UTSW |
7 |
25,795,246 (GRCm39) |
makesense |
probably null |
|
|
R2879:Cyp2b13
|
UTSW |
7 |
25,785,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4654:Cyp2b13
|
UTSW |
7 |
25,761,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Cyp2b13
|
UTSW |
7 |
25,787,720 (GRCm39) |
missense |
probably benign |
|
|
R4969:Cyp2b13
|
UTSW |
7 |
25,780,413 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5174:Cyp2b13
|
UTSW |
7 |
25,788,118 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6243:Cyp2b13
|
UTSW |
7 |
25,761,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6616:Cyp2b13
|
UTSW |
7 |
25,785,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6647:Cyp2b13
|
UTSW |
7 |
25,785,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6766:Cyp2b13
|
UTSW |
7 |
25,781,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6844:Cyp2b13
|
UTSW |
7 |
25,781,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7431:Cyp2b13
|
UTSW |
7 |
25,760,976 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7593:Cyp2b13
|
UTSW |
7 |
25,780,416 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7719:Cyp2b13
|
UTSW |
7 |
25,795,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7857:Cyp2b13
|
UTSW |
7 |
25,788,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8406:Cyp2b13
|
UTSW |
7 |
25,781,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9418:Cyp2b13
|
UTSW |
7 |
25,761,110 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9557:Cyp2b13
|
UTSW |
7 |
25,780,123 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-12-18 |
Incidental Mutation