Incidental Mutation 'R9437:Cyp2b23'
| ID |
713323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2b23
|
| Ensembl Gene |
ENSMUSG00000040650 |
| Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 23 |
| Synonyms |
EG243881 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26364652-26385862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26372199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 415
(D415E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077356]
|
| AlphaFold |
E9Q593 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077356
AA Change: D415E
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000076578
Gene: ENSMUSG00000040650
AA Change: D415E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
488 |
2.9e-148 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
C |
17: 32,553,608 (GRCm39) |
S371G |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,162,158 (GRCm39) |
S2255P |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Copa |
G |
A |
1: 171,931,712 (GRCm39) |
R321H |
possibly damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,331,004 (GRCm39) |
D42G |
probably benign |
Het |
| Ebf4 |
T |
A |
2: 130,202,005 (GRCm39) |
S325T |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,097,562 (GRCm39) |
E137G |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,813,872 (GRCm39) |
S1304P |
probably benign |
Het |
| Fam24b |
A |
T |
7: 130,927,893 (GRCm39) |
C99S |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,417 (GRCm39) |
T1437A |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,627 (GRCm39) |
T287A |
probably benign |
Het |
| Fscb |
G |
T |
12: 64,519,708 (GRCm39) |
A586E |
unknown |
Het |
| Gm2244 |
A |
T |
14: 19,599,038 (GRCm39) |
I86N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Kcnk5 |
A |
C |
14: 20,192,468 (GRCm39) |
I231S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,276,390 (GRCm39) |
M87T |
probably benign |
Het |
| Ly6c2 |
C |
G |
15: 74,983,535 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
A |
9: 109,864,155 (GRCm39) |
T460K |
possibly damaging |
Het |
| Mok |
A |
G |
12: 110,774,659 (GRCm39) |
C388R |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,065 (GRCm39) |
D200G |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,153,655 (GRCm39) |
Y687H |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,187,108 (GRCm39) |
T385A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,504,195 (GRCm39) |
M135T |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,739,963 (GRCm39) |
Y294* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,664,581 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigx |
G |
T |
16: 31,918,310 (GRCm39) |
D26E |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,973,267 (GRCm39) |
I363T |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,715 (GRCm39) |
Y133N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,246,925 (GRCm39) |
I407T |
probably damaging |
Het |
| Rc3h2 |
G |
A |
2: 37,272,841 (GRCm39) |
A745V |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,636,777 (GRCm39) |
E703G |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,681,697 (GRCm39) |
|
probably null |
Het |
| Tbpl1 |
T |
C |
10: 22,587,838 (GRCm39) |
N37S |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,559,096 (GRCm39) |
I77V |
possibly 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 |
|
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 |
|
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 |
|
|
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'- GGTGCTCCTTCAGTTCAAGAC -3'
(R):5'- TCACAAATCTTACCCTGTTTGTGG -3'
Sequencing Primer
(F):5'- CAGTTCAAGACTTCCCATATGGG -3'
(R):5'- AAATCTTACCCTGTTTGTGGTTTCAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation