Incidental Mutation 'IGL00901:Cyp2b9'
ID |
27766 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2b9
|
Ensembl Gene |
ENSMUSG00000040660 |
Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 9 |
Synonyms |
phenobarbitol inducible, type a, Cyp2b |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
IGL00901
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
25872836-25910086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25897930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 245
(I245F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082214]
|
AlphaFold |
P12790 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000082214
AA Change: I245F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000080846 Gene: ENSMUSG00000040660 AA Change: I245F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
31 |
488 |
1.7e-146 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot6 |
A |
G |
12: 84,153,250 (GRCm39) |
Y164C |
probably benign |
Het |
Anpep |
A |
G |
7: 79,489,171 (GRCm39) |
S334P |
probably benign |
Het |
Arhgef1 |
A |
G |
7: 24,612,118 (GRCm39) |
E129G |
probably damaging |
Het |
Bmt2 |
G |
T |
6: 13,628,748 (GRCm39) |
H312N |
probably damaging |
Het |
Brme1 |
A |
G |
8: 84,893,400 (GRCm39) |
D189G |
probably damaging |
Het |
Ces2g |
A |
G |
8: 105,691,761 (GRCm39) |
Y272C |
probably benign |
Het |
Cfap69 |
T |
A |
5: 5,669,162 (GRCm39) |
|
probably benign |
Het |
Cftr |
T |
C |
6: 18,268,429 (GRCm39) |
|
probably null |
Het |
Clec2g |
A |
G |
6: 128,925,655 (GRCm39) |
|
probably benign |
Het |
Fbxo6 |
T |
A |
4: 148,230,600 (GRCm39) |
I221F |
probably damaging |
Het |
Fbxw21 |
A |
C |
9: 108,985,467 (GRCm39) |
C104G |
probably benign |
Het |
Flna |
A |
G |
X: 73,273,534 (GRCm39) |
S101P |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ift88 |
T |
A |
14: 57,681,902 (GRCm39) |
F229I |
probably damaging |
Het |
Map2k3 |
T |
C |
11: 60,832,747 (GRCm39) |
S31P |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,154,815 (GRCm39) |
D176G |
probably damaging |
Het |
Or12d2 |
T |
G |
17: 37,624,598 (GRCm39) |
K226Q |
possibly damaging |
Het |
Or12e10 |
A |
G |
2: 87,640,992 (GRCm39) |
Y276C |
probably damaging |
Het |
Or14j6 |
T |
A |
17: 38,215,148 (GRCm39) |
V237D |
probably damaging |
Het |
Pde7b |
C |
T |
10: 20,494,875 (GRCm39) |
|
probably null |
Het |
Polr3b |
T |
C |
10: 84,467,660 (GRCm39) |
I80T |
possibly damaging |
Het |
Prpf4b |
T |
A |
13: 35,078,465 (GRCm39) |
Y692N |
probably damaging |
Het |
Rabl2 |
T |
C |
15: 89,474,473 (GRCm39) |
|
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,115,611 (GRCm39) |
K659R |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,716,934 (GRCm39) |
S774T |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,471,685 (GRCm39) |
T426M |
probably damaging |
Het |
Serpinb10 |
A |
G |
1: 107,468,726 (GRCm39) |
K123R |
probably benign |
Het |
Slc33a1 |
T |
C |
3: 63,871,433 (GRCm39) |
D60G |
probably benign |
Het |
Tnks |
A |
T |
8: 35,305,549 (GRCm39) |
Y92* |
probably null |
Het |
Tvp23b |
T |
A |
11: 62,774,606 (GRCm39) |
|
probably benign |
Het |
Wnk1 |
T |
A |
6: 119,937,669 (GRCm39) |
Q1218L |
probably damaging |
Het |
|
Other mutations in Cyp2b9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01133:Cyp2b9
|
APN |
7 |
25,909,660 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01331:Cyp2b9
|
APN |
7 |
25,887,140 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02281:Cyp2b9
|
APN |
7 |
25,900,529 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02502:Cyp2b9
|
APN |
7 |
25,887,239 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02713:Cyp2b9
|
APN |
7 |
25,872,945 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03032:Cyp2b9
|
APN |
7 |
25,898,025 (GRCm39) |
splice site |
probably benign |
|
IGL03307:Cyp2b9
|
APN |
7 |
25,898,476 (GRCm39) |
missense |
probably benign |
0.00 |
R0010:Cyp2b9
|
UTSW |
7 |
25,886,178 (GRCm39) |
splice site |
probably benign |
|
R0025:Cyp2b9
|
UTSW |
7 |
25,900,238 (GRCm39) |
missense |
probably benign |
0.09 |
R0040:Cyp2b9
|
UTSW |
7 |
25,872,899 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0184:Cyp2b9
|
UTSW |
7 |
25,886,432 (GRCm39) |
nonsense |
probably null |
|
R0370:Cyp2b9
|
UTSW |
7 |
25,909,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R1595:Cyp2b9
|
UTSW |
7 |
25,900,332 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1751:Cyp2b9
|
UTSW |
7 |
25,886,100 (GRCm39) |
missense |
probably benign |
0.05 |
R1835:Cyp2b9
|
UTSW |
7 |
25,900,208 (GRCm39) |
missense |
probably benign |
|
R1879:Cyp2b9
|
UTSW |
7 |
25,897,994 (GRCm39) |
missense |
probably damaging |
0.99 |
R2256:Cyp2b9
|
UTSW |
7 |
25,873,030 (GRCm39) |
critical splice donor site |
probably null |
|
R2257:Cyp2b9
|
UTSW |
7 |
25,873,030 (GRCm39) |
critical splice donor site |
probably null |
|
R2418:Cyp2b9
|
UTSW |
7 |
25,886,132 (GRCm39) |
missense |
probably benign |
0.00 |
R3420:Cyp2b9
|
UTSW |
7 |
25,909,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R4088:Cyp2b9
|
UTSW |
7 |
25,872,881 (GRCm39) |
missense |
probably damaging |
0.99 |
R4412:Cyp2b9
|
UTSW |
7 |
25,897,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R4495:Cyp2b9
|
UTSW |
7 |
25,900,180 (GRCm39) |
missense |
probably benign |
0.00 |
R4615:Cyp2b9
|
UTSW |
7 |
25,900,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R5375:Cyp2b9
|
UTSW |
7 |
25,887,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5426:Cyp2b9
|
UTSW |
7 |
25,887,080 (GRCm39) |
missense |
probably benign |
|
R5862:Cyp2b9
|
UTSW |
7 |
25,887,232 (GRCm39) |
missense |
probably benign |
0.01 |
R6237:Cyp2b9
|
UTSW |
7 |
25,872,999 (GRCm39) |
missense |
probably benign |
0.02 |
R6445:Cyp2b9
|
UTSW |
7 |
25,886,412 (GRCm39) |
missense |
probably benign |
0.13 |
R6992:Cyp2b9
|
UTSW |
7 |
25,900,564 (GRCm39) |
missense |
probably benign |
0.00 |
R7515:Cyp2b9
|
UTSW |
7 |
25,898,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Cyp2b9
|
UTSW |
7 |
25,886,367 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7816:Cyp2b9
|
UTSW |
7 |
25,900,517 (GRCm39) |
missense |
probably benign |
0.01 |
R7850:Cyp2b9
|
UTSW |
7 |
25,886,111 (GRCm39) |
nonsense |
probably null |
|
R8734:Cyp2b9
|
UTSW |
7 |
25,898,035 (GRCm39) |
intron |
probably benign |
|
R8790:Cyp2b9
|
UTSW |
7 |
25,898,167 (GRCm39) |
intron |
probably benign |
|
R8839:Cyp2b9
|
UTSW |
7 |
25,900,185 (GRCm39) |
missense |
probably damaging |
0.96 |
R9209:Cyp2b9
|
UTSW |
7 |
25,873,004 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9723:Cyp2b9
|
UTSW |
7 |
25,909,596 (GRCm39) |
nonsense |
probably null |
|
R9787:Cyp2b9
|
UTSW |
7 |
25,900,259 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Cyp2b9
|
UTSW |
7 |
25,900,588 (GRCm39) |
missense |
probably benign |
0.31 |
|
Posted On |
2013-04-17 |