Incidental Mutation 'R4015:Cyp2b19'
ID |
311904 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2b19
|
Ensembl Gene |
ENSMUSG00000066704 |
Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 19 |
Synonyms |
|
MMRRC Submission |
040952-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R4015 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26456567-26472055 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26461768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 196
(F196S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077855]
|
AlphaFold |
O55071 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077855
AA Change: F196S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077021 Gene: ENSMUSG00000066704 AA Change: F196S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:p450
|
32 |
489 |
8.7e-151 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138018
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.5%
|
Validation Efficiency |
97% (38/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
C |
T |
1: 75,151,135 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,358,331 (GRCm39) |
D580G |
probably damaging |
Het |
Ccdc66 |
A |
G |
14: 27,205,793 (GRCm39) |
I898T |
probably damaging |
Het |
Celf3 |
T |
C |
3: 94,394,505 (GRCm39) |
V202A |
probably benign |
Het |
Cfap161 |
C |
T |
7: 83,429,479 (GRCm39) |
G180S |
probably benign |
Het |
Col5a2 |
T |
C |
1: 45,442,631 (GRCm39) |
I605V |
probably benign |
Het |
Coq6 |
A |
G |
12: 84,413,671 (GRCm39) |
H67R |
probably benign |
Het |
Cyp4a14 |
G |
T |
4: 115,348,331 (GRCm39) |
P382Q |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Ddias |
T |
C |
7: 92,509,069 (GRCm39) |
K282R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,854,990 (GRCm39) |
Q1965R |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
Mocs2 |
T |
C |
13: 114,957,334 (GRCm39) |
|
probably benign |
Het |
Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
Nalcn |
T |
G |
14: 123,723,799 (GRCm39) |
E422A |
probably damaging |
Het |
Pcdh17 |
T |
C |
14: 84,684,547 (GRCm39) |
V338A |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,145,491 (GRCm39) |
S488P |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Srcap |
C |
A |
7: 127,124,595 (GRCm39) |
P255Q |
probably benign |
Het |
Sult6b2 |
T |
A |
6: 142,735,988 (GRCm39) |
N202I |
possibly damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,613,382 (GRCm39) |
|
probably benign |
Het |
Tef |
T |
C |
15: 81,707,806 (GRCm39) |
V261A |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,187 (GRCm39) |
V2582I |
possibly damaging |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
Unc13b |
G |
A |
4: 43,237,801 (GRCm39) |
G3441R |
probably damaging |
Het |
Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
Wdr70 |
A |
T |
15: 8,108,698 (GRCm39) |
C149* |
probably null |
Het |
Zfp867 |
A |
G |
11: 59,354,520 (GRCm39) |
F270L |
probably damaging |
Het |
|
Other mutations in Cyp2b19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00981:Cyp2b19
|
APN |
7 |
26,462,886 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01338:Cyp2b19
|
APN |
7 |
26,458,842 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01374:Cyp2b19
|
APN |
7 |
26,458,504 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01613:Cyp2b19
|
APN |
7 |
26,462,886 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01695:Cyp2b19
|
APN |
7 |
26,458,489 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02322:Cyp2b19
|
APN |
7 |
26,461,803 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL03077:Cyp2b19
|
APN |
7 |
26,461,809 (GRCm39) |
missense |
probably benign |
|
R0047:Cyp2b19
|
UTSW |
7 |
26,466,251 (GRCm39) |
missense |
probably benign |
0.01 |
R0047:Cyp2b19
|
UTSW |
7 |
26,466,251 (GRCm39) |
missense |
probably benign |
0.01 |
R0452:Cyp2b19
|
UTSW |
7 |
26,466,187 (GRCm39) |
missense |
probably benign |
0.01 |
R0865:Cyp2b19
|
UTSW |
7 |
26,461,654 (GRCm39) |
splice site |
probably benign |
|
R1514:Cyp2b19
|
UTSW |
7 |
26,466,585 (GRCm39) |
missense |
probably benign |
0.00 |
R1681:Cyp2b19
|
UTSW |
7 |
26,462,765 (GRCm39) |
splice site |
probably null |
|
R2362:Cyp2b19
|
UTSW |
7 |
26,463,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R4259:Cyp2b19
|
UTSW |
7 |
26,462,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R4592:Cyp2b19
|
UTSW |
7 |
26,470,819 (GRCm39) |
missense |
probably benign |
0.04 |
R4705:Cyp2b19
|
UTSW |
7 |
26,456,717 (GRCm39) |
missense |
probably benign |
0.03 |
R4789:Cyp2b19
|
UTSW |
7 |
26,463,801 (GRCm39) |
missense |
probably benign |
0.16 |
R5481:Cyp2b19
|
UTSW |
7 |
26,466,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R5749:Cyp2b19
|
UTSW |
7 |
26,462,844 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6041:Cyp2b19
|
UTSW |
7 |
26,458,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Cyp2b19
|
UTSW |
7 |
26,458,519 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6259:Cyp2b19
|
UTSW |
7 |
26,470,817 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6370:Cyp2b19
|
UTSW |
7 |
26,462,783 (GRCm39) |
missense |
probably benign |
0.07 |
R6519:Cyp2b19
|
UTSW |
7 |
26,458,536 (GRCm39) |
missense |
probably benign |
|
R6656:Cyp2b19
|
UTSW |
7 |
26,466,280 (GRCm39) |
missense |
probably benign |
|
R7283:Cyp2b19
|
UTSW |
7 |
26,466,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Cyp2b19
|
UTSW |
7 |
26,458,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R7686:Cyp2b19
|
UTSW |
7 |
26,461,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R7732:Cyp2b19
|
UTSW |
7 |
26,470,769 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7831:Cyp2b19
|
UTSW |
7 |
26,466,565 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8035:Cyp2b19
|
UTSW |
7 |
26,470,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:Cyp2b19
|
UTSW |
7 |
26,456,645 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9574:Cyp2b19
|
UTSW |
7 |
26,466,353 (GRCm39) |
missense |
probably null |
1.00 |
R9574:Cyp2b19
|
UTSW |
7 |
26,466,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R9650:Cyp2b19
|
UTSW |
7 |
26,466,208 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9681:Cyp2b19
|
UTSW |
7 |
26,466,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCTGCCTCACAAGATGG -3'
(R):5'- GCTCTAACCTGTTAAACATGCCC -3'
Sequencing Primer
(F):5'- CTGCCTCACAAGATGGAAATAAATTC -3'
(R):5'- GTTAAACATGCCCCCTCCTTG -3'
|
Posted On |
2015-04-29 |