Incidental Mutation 'R4259:Cyp2b19'
ID |
322560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2b19
|
Ensembl Gene |
ENSMUSG00000066704 |
Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 19 |
Synonyms |
|
MMRRC Submission |
041072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R4259 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26456567-26472055 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26462807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 230
(G230S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077855]
|
AlphaFold |
O55071 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077855
AA Change: G230S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000077021 Gene: ENSMUSG00000066704 AA Change: G230S
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
Cd248 |
A |
G |
19: 5,118,866 (GRCm39) |
D238G |
probably damaging |
Het |
Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
Pdk2 |
T |
C |
11: 94,931,970 (GRCm39) |
D38G |
probably benign |
Het |
Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
Prl3b1 |
T |
C |
13: 27,427,889 (GRCm39) |
|
probably null |
Het |
Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
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 |
R4015:Cyp2b19
|
UTSW |
7 |
26,461,768 (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'- AGACAGTTTGGCAAAGGGAC -3'
(R):5'- TCTGACAACATCCCCATCCT -3'
Sequencing Primer
(F):5'- CAGTTCAAAAGCATGCATGTGTATGG -3'
(R):5'- GACAACATCCCCATCCTTCACTTTC -3'
|
Posted On |
2015-06-20 |