Incidental Mutation 'IGL01879:Cyp2b23'
| ID |
178983 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cyp2b23
|
| Ensembl Gene |
ENSMUSG00000040650 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 23 |
| Synonyms |
EG243881 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL01879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
26364652-26385862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26372279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 389
(Y389H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077356]
|
| AlphaFold |
E9Q593 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077356
AA Change: Y389H
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000076578
Gene: ENSMUSG00000040650
AA Change: Y389H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
488 |
2.9e-148 |
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 |
|---|
| Cgn |
G |
A |
3: 94,681,674 (GRCm39) |
R474* |
probably null |
Het |
| Chmp4b |
T |
C |
2: 154,534,601 (GRCm39) |
|
probably benign |
Het |
| Chst15 |
A |
G |
7: 131,871,994 (GRCm39) |
Y96H |
possibly damaging |
Het |
| Clstn3 |
A |
G |
6: 124,415,769 (GRCm39) |
S638P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,265,952 (GRCm39) |
G187E |
probably damaging |
Het |
| Cyp3a13 |
T |
C |
5: 137,917,265 (GRCm39) |
Q54R |
probably benign |
Het |
| Dscc1 |
T |
C |
15: 54,950,212 (GRCm39) |
I178V |
probably benign |
Het |
| Fbxo4 |
G |
A |
15: 4,005,436 (GRCm39) |
T148M |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
| Grid1 |
T |
A |
14: 35,172,327 (GRCm39) |
I611N |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,325,287 (GRCm39) |
F385L |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,149,166 (GRCm39) |
T17A |
possibly damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,366 (GRCm39) |
I93M |
probably benign |
Het |
| Or4n4b |
A |
G |
14: 50,535,969 (GRCm39) |
S266P |
probably benign |
Het |
| Or5p60 |
A |
T |
7: 107,724,371 (GRCm39) |
I33N |
possibly damaging |
Het |
| Or7g29 |
A |
T |
9: 19,286,703 (GRCm39) |
L158* |
probably null |
Het |
| Parg |
T |
C |
14: 31,993,579 (GRCm39) |
|
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,508,139 (GRCm39) |
D687G |
probably benign |
Het |
| Sh3bp1 |
T |
G |
15: 78,792,192 (GRCm39) |
S450A |
probably damaging |
Het |
| Skap2 |
T |
C |
6: 51,973,014 (GRCm39) |
D90G |
possibly damaging |
Het |
| Smc5 |
C |
T |
19: 23,205,548 (GRCm39) |
R796H |
probably damaging |
Het |
| Tdrd12 |
A |
C |
7: 35,221,348 (GRCm39) |
I146S |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,918,363 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,741,119 (GRCm39) |
T2702I |
probably benign |
Het |
| Vmn1r88 |
T |
A |
7: 12,912,229 (GRCm39) |
M195K |
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,122 (GRCm39) |
H849R |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r4 |
C |
T |
3: 64,298,431 (GRCm39) |
G566R |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,661,630 (GRCm39) |
T301A |
probably damaging |
Het |
|
| Other mutations in Cyp2b23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01716:Cyp2b23
|
APN |
7 |
26,378,915 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02207:Cyp2b23
|
APN |
7 |
26,381,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Cyp2b23
|
APN |
7 |
26,380,892 (GRCm39) |
splice site |
probably benign |
|
|
R0117:Cyp2b23
|
UTSW |
7 |
26,372,539 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0265:Cyp2b23
|
UTSW |
7 |
26,372,304 (GRCm39) |
splice site |
probably benign |
|
|
R1457:Cyp2b23
|
UTSW |
7 |
26,372,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Cyp2b23
|
UTSW |
7 |
26,385,843 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1639:Cyp2b23
|
UTSW |
7 |
26,385,842 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1741:Cyp2b23
|
UTSW |
7 |
26,372,502 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2042:Cyp2b23
|
UTSW |
7 |
26,365,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Cyp2b23
|
UTSW |
7 |
26,380,842 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4078:Cyp2b23
|
UTSW |
7 |
26,372,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4279:Cyp2b23
|
UTSW |
7 |
26,365,452 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4668:Cyp2b23
|
UTSW |
7 |
26,372,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Cyp2b23
|
UTSW |
7 |
26,380,848 (GRCm39) |
nonsense |
probably null |
|
|
R5516:Cyp2b23
|
UTSW |
7 |
26,372,482 (GRCm39) |
nonsense |
probably null |
|
|
R5723:Cyp2b23
|
UTSW |
7 |
26,380,821 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5873:Cyp2b23
|
UTSW |
7 |
26,374,431 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6346:Cyp2b23
|
UTSW |
7 |
26,381,150 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6977:Cyp2b23
|
UTSW |
7 |
26,380,745 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7131:Cyp2b23
|
UTSW |
7 |
26,380,838 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7181:Cyp2b23
|
UTSW |
7 |
26,373,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7715:Cyp2b23
|
UTSW |
7 |
26,381,120 (GRCm39) |
missense |
probably benign |
|
|
R7877:Cyp2b23
|
UTSW |
7 |
26,385,851 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7880:Cyp2b23
|
UTSW |
7 |
26,372,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8004:Cyp2b23
|
UTSW |
7 |
26,378,891 (GRCm39) |
missense |
probably benign |
|
|
R8072:Cyp2b23
|
UTSW |
7 |
26,365,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Cyp2b23
|
UTSW |
7 |
26,385,828 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8968:Cyp2b23
|
UTSW |
7 |
26,378,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9129:Cyp2b23
|
UTSW |
7 |
26,381,189 (GRCm39) |
splice site |
probably benign |
|
|
R9437:Cyp2b23
|
UTSW |
7 |
26,372,199 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9794:Cyp2b23
|
UTSW |
7 |
26,381,121 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1088:Cyp2b23
|
UTSW |
7 |
26,380,836 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-05-07 |
Incidental Mutation