Incidental Mutation 'IGL01134:Cyp2b13'
| ID |
51627 |
| 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 # |
IGL01134
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25760922-25795622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25781125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 179
(I179N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005669]
|
| AlphaFold |
A6H6J2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005669
AA Change: I179N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: I179N
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,142,105 (GRCm39) |
H637Q |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Akap6 |
C |
A |
12: 52,984,000 (GRCm39) |
A848E |
probably damaging |
Het |
| Cxxc4 |
A |
G |
3: 133,946,420 (GRCm39) |
I334V |
probably null |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,102 (GRCm39) |
A183S |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,509,256 (GRCm39) |
N110S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,019,548 (GRCm39) |
R674S |
possibly damaging |
Het |
| Fnip2 |
G |
T |
3: 79,419,810 (GRCm39) |
Y155* |
probably null |
Het |
| Fut9 |
G |
T |
4: 25,620,446 (GRCm39) |
Q123K |
probably benign |
Het |
| Gda |
A |
G |
19: 21,394,429 (GRCm39) |
S143P |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,835,820 (GRCm39) |
|
probably null |
Het |
| Hsf2bp |
A |
G |
17: 32,206,378 (GRCm39) |
L251S |
probably damaging |
Het |
| Hsh2d |
A |
T |
8: 72,947,375 (GRCm39) |
D24V |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,501 (GRCm39) |
T264S |
probably benign |
Het |
| Med12l |
G |
A |
3: 58,949,696 (GRCm39) |
E151K |
possibly damaging |
Het |
| Mgat3 |
C |
A |
15: 80,096,377 (GRCm39) |
N401K |
probably benign |
Het |
| Mmp27 |
T |
G |
9: 7,573,298 (GRCm39) |
M130R |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,944,634 (GRCm39) |
S412T |
probably benign |
Het |
| Mrps9 |
A |
G |
1: 42,942,557 (GRCm39) |
I338M |
probably damaging |
Het |
| Mtmr4 |
C |
T |
11: 87,494,893 (GRCm39) |
T395M |
probably damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,112 (GRCm39) |
I116M |
probably benign |
Het |
| Nqo1 |
T |
C |
8: 108,115,587 (GRCm39) |
D230G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,889 (GRCm39) |
V795I |
probably benign |
Het |
| Pde8a |
G |
A |
7: 80,968,826 (GRCm39) |
R449Q |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,302,784 (GRCm39) |
R770G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,378 (GRCm39) |
S19P |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,849 (GRCm39) |
S2529P |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,141,103 (GRCm39) |
F367L |
probably damaging |
Het |
| Vps41 |
A |
G |
13: 19,050,320 (GRCm39) |
S838G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,789 (GRCm39) |
F124I |
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 |
|
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 |
|
IGL02960:Cyp2b13
|
APN |
7 |
25,761,101 (GRCm39) |
missense |
probably benign |
0.33 |
|
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 |
2013-06-21 |
Incidental Mutation