Incidental Mutation 'R2416:Cyp2b13'
| ID |
249006 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25760922-25795622 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 25795246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 492
(*492W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005669]
|
| AlphaFold |
A6H6J2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005669
AA Change: *492W
|
| SMART Domains |
Protein: ENSMUSP00000005669
Gene: ENSMUSG00000040583
AA Change: *492W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:p450
|
31 |
488 |
9.8e-150 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206876
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
| Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
| Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
| Eif3m |
G |
T |
2: 104,844,178 (GRCm39) |
P76T |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,628,618 (GRCm39) |
S138T |
possibly damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,158 (GRCm39) |
T77A |
probably benign |
Het |
| Hdac1-ps |
G |
T |
17: 78,799,945 (GRCm39) |
W312L |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,422,803 (GRCm39) |
L311P |
probably damaging |
Het |
| Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably 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 |
|
R2879:Cyp2b13
|
UTSW |
7 |
25,785,456 (GRCm39) |
critical splice donor site |
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'- GTCTTGGTGAAAGCATTGCCC -3'
(R):5'- CAGCATGAGATGTGGACTCCAG -3'
Sequencing Primer
(F):5'- GCATTGCCCGCAACGAATTG -3'
(R):5'- TCCAGAAGTCTCTGTTCACAAATC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation