Incidental Mutation 'IGL03307:Cyp2b9'
ID |
416408 |
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 # |
IGL03307
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
25872836-25910086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25898476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 277
(S277L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082214]
|
AlphaFold |
P12790 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082214
AA Change: S277L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000080846 Gene: ENSMUSG00000040660 AA Change: S277L
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
T |
C |
12: 88,425,823 (GRCm39) |
I417T |
possibly damaging |
Het |
Arrdc1 |
A |
T |
2: 24,816,354 (GRCm39) |
I205N |
probably damaging |
Het |
Atp6v1a |
A |
G |
16: 43,931,922 (GRCm39) |
V122A |
possibly damaging |
Het |
Atp8a2 |
A |
G |
14: 60,253,321 (GRCm39) |
|
probably null |
Het |
Cdh18 |
A |
G |
15: 23,226,872 (GRCm39) |
H111R |
probably damaging |
Het |
Cpsf3 |
T |
A |
12: 21,346,715 (GRCm39) |
I196N |
possibly damaging |
Het |
Grik3 |
T |
C |
4: 125,535,347 (GRCm39) |
M248T |
possibly damaging |
Het |
Gusb |
T |
C |
5: 130,028,872 (GRCm39) |
*145W |
probably null |
Het |
Il18rap |
T |
C |
1: 40,582,227 (GRCm39) |
Y383H |
probably benign |
Het |
Lama4 |
T |
C |
10: 38,893,379 (GRCm39) |
V162A |
probably benign |
Het |
Macc1 |
A |
T |
12: 119,410,155 (GRCm39) |
M308L |
probably benign |
Het |
Or52s1b |
C |
T |
7: 102,822,623 (GRCm39) |
V74I |
probably benign |
Het |
Or8g27 |
A |
T |
9: 39,129,309 (GRCm39) |
I219F |
probably benign |
Het |
Postn |
A |
G |
3: 54,282,548 (GRCm39) |
D503G |
probably benign |
Het |
Robo3 |
A |
T |
9: 37,333,860 (GRCm39) |
V658D |
probably damaging |
Het |
Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
Setd1b |
C |
A |
5: 123,286,734 (GRCm39) |
D593E |
unknown |
Het |
Slc2a13 |
C |
T |
15: 91,160,317 (GRCm39) |
V546M |
probably damaging |
Het |
Spock1 |
T |
C |
13: 57,577,160 (GRCm39) |
D423G |
probably null |
Het |
Stox2 |
T |
C |
8: 47,647,065 (GRCm39) |
T132A |
probably damaging |
Het |
Tle2 |
T |
C |
10: 81,426,074 (GRCm39) |
S703P |
probably damaging |
Het |
Trgc1 |
A |
G |
13: 19,398,528 (GRCm39) |
|
probably benign |
Het |
Ttc41 |
T |
C |
10: 86,580,304 (GRCm39) |
I750T |
possibly damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,577,038 (GRCm39) |
K345N |
probably benign |
Het |
Vmn2r60 |
T |
C |
7: 41,765,971 (GRCm39) |
V26A |
probably benign |
Het |
Vmn2r98 |
G |
A |
17: 19,286,242 (GRCm39) |
V247I |
possibly damaging |
Het |
Zan |
A |
G |
5: 137,472,287 (GRCm39) |
V153A |
probably 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 |
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 |
|
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 |
2016-08-02 |