Incidental Mutation 'IGL02281:Cyp2b9'
ID |
289824 |
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 # |
IGL02281
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
25872836-25910086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25900529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 389
(Y389C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082214]
|
AlphaFold |
P12790 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000082214
AA Change: Y389C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080846 Gene: ENSMUSG00000040660 AA Change: Y389C
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
Aldh3a1 |
T |
G |
11: 61,107,949 (GRCm39) |
|
probably null |
Het |
Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
possibly damaging |
Het |
|
Other mutations in Cyp2b9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00901:Cyp2b9
|
APN |
7 |
25,897,930 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
2015-04-16 |