Incidental Mutation 'R2879:Cyp2b13'
ID |
260227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2b13
|
Ensembl Gene |
ENSMUSG00000040583 |
Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 13 |
Synonyms |
phenobarbital inducible, type c |
MMRRC Submission |
040467-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25760922-25795622 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to G
at 25785456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000005669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005669]
[ENSMUST00000005669]
[ENSMUST00000005669]
|
AlphaFold |
A6H6J2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005669
|
SMART Domains |
Protein: ENSMUSP00000005669 Gene: ENSMUSG00000040583
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
31 |
488 |
9.8e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000005669
|
SMART Domains |
Protein: ENSMUSP00000005669 Gene: ENSMUSG00000040583
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
31 |
488 |
9.8e-150 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000005669
|
SMART Domains |
Protein: ENSMUSP00000005669 Gene: ENSMUSG00000040583
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:p450
|
31 |
488 |
9.8e-150 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Acte1 |
T |
A |
7: 143,447,800 (GRCm39) |
Y214* |
probably null |
Het |
Akap9 |
A |
G |
5: 4,026,353 (GRCm39) |
|
probably benign |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
Arhgef10l |
G |
T |
4: 140,242,598 (GRCm39) |
H890Q |
probably benign |
Het |
Ccnj |
T |
A |
19: 40,833,158 (GRCm39) |
L112Q |
probably damaging |
Het |
Chaf1a |
T |
C |
17: 56,351,114 (GRCm39) |
|
probably null |
Het |
Chchd4 |
A |
G |
6: 91,442,200 (GRCm39) |
S73P |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,254,924 (GRCm39) |
K139E |
possibly damaging |
Het |
Dagla |
T |
C |
19: 10,248,448 (GRCm39) |
I71V |
possibly damaging |
Het |
Epor |
A |
T |
9: 21,870,936 (GRCm39) |
W315R |
probably damaging |
Het |
Etv1 |
T |
A |
12: 38,833,809 (GRCm39) |
|
probably null |
Het |
Fbn2 |
A |
T |
18: 58,202,314 (GRCm39) |
C1280S |
probably damaging |
Het |
Fbxo2 |
G |
C |
4: 148,250,468 (GRCm39) |
R269P |
probably damaging |
Het |
Fer1l4 |
A |
T |
2: 155,894,120 (GRCm39) |
L61Q |
probably damaging |
Het |
Ggnbp2 |
C |
T |
11: 84,723,797 (GRCm39) |
|
probably null |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Ibsp |
G |
A |
5: 104,458,260 (GRCm39) |
E266K |
possibly damaging |
Het |
Lamb3 |
T |
A |
1: 193,013,092 (GRCm39) |
M439K |
possibly damaging |
Het |
Lnx1 |
C |
T |
5: 74,780,784 (GRCm39) |
V246M |
probably benign |
Het |
Lrrc32 |
A |
G |
7: 98,148,984 (GRCm39) |
Q588R |
probably benign |
Het |
Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
Med13 |
C |
T |
11: 86,189,988 (GRCm39) |
A974T |
possibly damaging |
Het |
Mogat2 |
A |
T |
7: 98,871,573 (GRCm39) |
I246N |
possibly damaging |
Het |
Myl2 |
T |
C |
5: 122,242,748 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or1p1c |
T |
A |
11: 74,161,049 (GRCm39) |
V278D |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
Pik3r2 |
A |
G |
8: 71,225,029 (GRCm39) |
Y145H |
probably benign |
Het |
Plg |
A |
G |
17: 12,622,987 (GRCm39) |
E509G |
possibly damaging |
Het |
Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
Ros1 |
C |
T |
10: 52,048,936 (GRCm39) |
|
probably null |
Het |
Sbno1 |
A |
G |
5: 124,526,635 (GRCm39) |
M960T |
probably damaging |
Het |
Smad1 |
T |
C |
8: 80,080,084 (GRCm39) |
|
probably null |
Het |
Ssc5d |
G |
A |
7: 4,939,906 (GRCm39) |
|
probably null |
Het |
Tfcp2 |
C |
T |
15: 100,449,201 (GRCm39) |
|
probably null |
Het |
Tmem121 |
A |
G |
12: 113,152,028 (GRCm39) |
Y82C |
probably damaging |
Het |
Tmem131 |
T |
C |
1: 36,880,788 (GRCm39) |
I161V |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 44,010,783 (GRCm39) |
F523L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,601,849 (GRCm39) |
|
silent |
Het |
Ttpal |
A |
G |
2: 163,457,503 (GRCm39) |
|
probably null |
Het |
Vdr |
T |
A |
15: 97,757,008 (GRCm39) |
Y288F |
probably benign |
Het |
Wipf2 |
C |
T |
11: 98,783,480 (GRCm39) |
A302V |
probably benign |
Het |
Zfp346 |
T |
G |
13: 55,253,163 (GRCm39) |
C3G |
possibly damaging |
Het |
|
Other mutations in Cyp2b13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00980:Cyp2b13
|
APN |
7 |
25,781,152 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01134:Cyp2b13
|
APN |
7 |
25,781,125 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02386:Cyp2b13
|
APN |
7 |
25,785,438 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02531:Cyp2b13
|
APN |
7 |
25,761,030 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02960:Cyp2b13
|
APN |
7 |
25,761,101 (GRCm39) |
missense |
probably benign |
0.33 |
R0018:Cyp2b13
|
UTSW |
7 |
25,785,375 (GRCm39) |
missense |
probably benign |
0.30 |
R0018:Cyp2b13
|
UTSW |
7 |
25,785,375 (GRCm39) |
missense |
probably benign |
0.30 |
R0103:Cyp2b13
|
UTSW |
7 |
25,788,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R0121:Cyp2b13
|
UTSW |
7 |
25,786,010 (GRCm39) |
missense |
probably benign |
|
R0392:Cyp2b13
|
UTSW |
7 |
25,785,308 (GRCm39) |
missense |
probably benign |
0.01 |
R0540:Cyp2b13
|
UTSW |
7 |
25,781,136 (GRCm39) |
missense |
probably benign |
0.07 |
R1887:Cyp2b13
|
UTSW |
7 |
25,788,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R2416:Cyp2b13
|
UTSW |
7 |
25,795,246 (GRCm39) |
makesense |
probably null |
|
R4654:Cyp2b13
|
UTSW |
7 |
25,761,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R4735:Cyp2b13
|
UTSW |
7 |
25,787,720 (GRCm39) |
missense |
probably benign |
|
R4969:Cyp2b13
|
UTSW |
7 |
25,780,413 (GRCm39) |
missense |
probably damaging |
0.98 |
R5174:Cyp2b13
|
UTSW |
7 |
25,788,118 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6243:Cyp2b13
|
UTSW |
7 |
25,761,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R6616:Cyp2b13
|
UTSW |
7 |
25,785,306 (GRCm39) |
missense |
probably benign |
0.04 |
R6647:Cyp2b13
|
UTSW |
7 |
25,785,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6766:Cyp2b13
|
UTSW |
7 |
25,781,236 (GRCm39) |
critical splice donor site |
probably null |
|
R6844:Cyp2b13
|
UTSW |
7 |
25,781,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Cyp2b13
|
UTSW |
7 |
25,760,976 (GRCm39) |
missense |
probably damaging |
0.96 |
R7593:Cyp2b13
|
UTSW |
7 |
25,780,416 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7719:Cyp2b13
|
UTSW |
7 |
25,795,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R7857:Cyp2b13
|
UTSW |
7 |
25,788,153 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8406:Cyp2b13
|
UTSW |
7 |
25,781,223 (GRCm39) |
missense |
probably benign |
0.01 |
R9418:Cyp2b13
|
UTSW |
7 |
25,761,110 (GRCm39) |
missense |
probably benign |
0.36 |
R9557:Cyp2b13
|
UTSW |
7 |
25,780,123 (GRCm39) |
missense |
probably benign |
0.05 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCTCTTCTCTGGTCTCTTGA -3'
(R):5'- CCCAGACTCATTCTTCTGTGGT -3'
Sequencing Primer
(F):5'- GAAGTACTTTCCTGGTGTACACAGAC -3'
(R):5'- AGACTCATTCTTCTGTGGTCTTTCTG -3'
|
Posted On |
2015-01-23 |