Incidental Mutation 'IGL02713:Cyp2b9'
ID |
304646 |
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: 0.108)
|
Stock # |
IGL02713
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
25872836-25910086 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25872945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 29
(H29Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082214]
|
AlphaFold |
P12790 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000082214
AA Change: H29Q
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000080846 Gene: ENSMUSG00000040660 AA Change: H29Q
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,749,992 (GRCm39) |
T1588A |
possibly damaging |
Het |
Apeh |
A |
T |
9: 107,962,871 (GRCm39) |
L700Q |
probably damaging |
Het |
Arid1b |
T |
C |
17: 5,393,286 (GRCm39) |
I2272T |
probably damaging |
Het |
Best3 |
T |
G |
10: 116,860,434 (GRCm39) |
F565V |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,886,319 (GRCm39) |
N521S |
probably benign |
Het |
Cd209f |
T |
A |
8: 4,153,732 (GRCm39) |
R191S |
probably benign |
Het |
Clec4e |
A |
T |
6: 123,263,263 (GRCm39) |
Y63* |
probably null |
Het |
Cracdl |
C |
A |
1: 37,663,218 (GRCm39) |
K893N |
possibly damaging |
Het |
Cyp26c1 |
C |
T |
19: 37,681,667 (GRCm39) |
T490M |
probably damaging |
Het |
Cyp2d10 |
A |
C |
15: 82,290,283 (GRCm39) |
|
probably benign |
Het |
Dgat1 |
C |
A |
15: 76,387,734 (GRCm39) |
R291L |
probably damaging |
Het |
Dyrk1a |
C |
A |
16: 94,486,204 (GRCm39) |
|
probably benign |
Het |
Esp4 |
T |
C |
17: 40,913,297 (GRCm39) |
F55L |
probably benign |
Het |
Fam227a |
G |
A |
15: 79,520,997 (GRCm39) |
|
probably benign |
Het |
Ggt1 |
T |
C |
10: 75,410,178 (GRCm39) |
Y37H |
probably damaging |
Het |
Grsf1 |
A |
T |
5: 88,820,589 (GRCm39) |
I64K |
probably damaging |
Het |
Itga6 |
C |
T |
2: 71,647,057 (GRCm39) |
T89I |
possibly damaging |
Het |
Jph2 |
T |
C |
2: 163,217,837 (GRCm39) |
T280A |
probably damaging |
Het |
Lipm |
A |
G |
19: 34,078,570 (GRCm39) |
M1V |
probably null |
Het |
Nbeal1 |
C |
T |
1: 60,274,396 (GRCm39) |
A513V |
possibly damaging |
Het |
Or10a3 |
G |
A |
7: 108,480,060 (GRCm39) |
T251I |
probably damaging |
Het |
Or10a48 |
A |
T |
7: 108,424,801 (GRCm39) |
M135K |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,682,553 (GRCm39) |
I121F |
possibly damaging |
Het |
Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
Or8b101 |
C |
T |
9: 38,020,623 (GRCm39) |
P214S |
probably damaging |
Het |
Orc6 |
A |
G |
8: 86,034,215 (GRCm39) |
E146G |
probably benign |
Het |
Patl2 |
A |
G |
2: 121,956,328 (GRCm39) |
S179P |
probably benign |
Het |
Pdzd8 |
C |
A |
19: 59,333,890 (GRCm39) |
G44C |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,253,938 (GRCm39) |
|
probably benign |
Het |
Ppp4r3b |
T |
G |
11: 29,138,445 (GRCm39) |
H264Q |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,468,807 (GRCm39) |
I1409T |
possibly damaging |
Het |
Pum1 |
T |
A |
4: 130,493,323 (GRCm39) |
I842N |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sgca |
T |
A |
11: 94,862,131 (GRCm39) |
N174Y |
probably damaging |
Het |
Slc7a14 |
A |
T |
3: 31,311,912 (GRCm39) |
L36Q |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stard13 |
G |
A |
5: 150,965,651 (GRCm39) |
Q935* |
probably null |
Het |
Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
Sv2b |
A |
T |
7: 74,773,911 (GRCm39) |
L520Q |
possibly damaging |
Het |
Tmem26 |
T |
C |
10: 68,587,125 (GRCm39) |
F191S |
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 |
|
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 |