Incidental Mutation 'R4279:Cyp2b23'
ID |
322798 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2b23
|
Ensembl Gene |
ENSMUSG00000040650 |
Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 23 |
Synonyms |
EG243881 |
MMRRC Submission |
041079-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R4279 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26364652-26385862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26365452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 461
(S461N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077356]
|
AlphaFold |
E9Q593 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077356
AA Change: S461N
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000076578 Gene: ENSMUSG00000040650 AA Change: S461N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:p450
|
31 |
488 |
2.9e-148 |
PFAM |
|
Meta Mutation Damage Score |
0.1856 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
probably benign |
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 |
IGL01879:Cyp2b23
|
APN |
7 |
26,372,279 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTTTCCAGCAGGTCTTTCAG -3'
(R):5'- TTGAATTGCAGGTTGAGAGTCAAAC -3'
Sequencing Primer
(F):5'- CAGCAGGTCTTTCAGAGGCAG -3'
(R):5'- CTCATTGTTATTCATTGCAATGGGC -3'
|
Posted On |
2015-06-20 |