Incidental Mutation 'IGL01695:Cyp2b19'
ID |
104234 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cyp2b19
|
Ensembl Gene |
ENSMUSG00000066704 |
Gene Name |
cytochrome P450, family 2, subfamily b, polypeptide 19 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL01695
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26456567-26472055 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26458489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 68
(T68I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077855]
|
AlphaFold |
O55071 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077855
AA Change: T68I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077021 Gene: ENSMUSG00000066704 AA Change: T68I
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3b2 |
T |
A |
7: 81,126,687 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
T |
C |
10: 18,479,167 (GRCm39) |
T1483A |
probably benign |
Het |
Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
Bahcc1 |
G |
A |
11: 120,167,435 (GRCm39) |
G1279R |
probably benign |
Het |
Bbs5 |
A |
G |
2: 69,479,434 (GRCm39) |
N43S |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,156,019 (GRCm39) |
V177A |
probably benign |
Het |
Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
Cdh23 |
C |
T |
10: 60,167,612 (GRCm39) |
V1795M |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,819,904 (GRCm39) |
E353G |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,236,194 (GRCm39) |
I976L |
probably benign |
Het |
Ctdp1 |
A |
T |
18: 80,492,841 (GRCm39) |
S551R |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,626,889 (GRCm39) |
E864D |
probably damaging |
Het |
Esr2 |
A |
G |
12: 76,192,093 (GRCm39) |
S312P |
probably damaging |
Het |
Gm6408 |
A |
G |
5: 146,418,939 (GRCm39) |
|
probably benign |
Het |
Krt9 |
A |
T |
11: 100,082,263 (GRCm39) |
|
probably null |
Het |
Myh6 |
T |
C |
14: 55,194,870 (GRCm39) |
T662A |
probably benign |
Het |
Ntn1 |
T |
C |
11: 68,117,430 (GRCm39) |
D473G |
probably benign |
Het |
Or51a7 |
T |
C |
7: 102,614,790 (GRCm39) |
F161S |
probably damaging |
Het |
Piezo1 |
A |
T |
8: 123,222,248 (GRCm39) |
C961S |
possibly damaging |
Het |
Pik3c2a |
T |
C |
7: 116,016,753 (GRCm39) |
T335A |
possibly damaging |
Het |
Plaa |
A |
T |
4: 94,462,274 (GRCm39) |
Y140* |
probably null |
Het |
Plxnb2 |
T |
C |
15: 89,041,417 (GRCm39) |
I1749V |
possibly damaging |
Het |
Ppp1r9a |
T |
A |
6: 5,064,003 (GRCm39) |
N555K |
probably damaging |
Het |
Ptprn2 |
T |
A |
12: 116,805,008 (GRCm39) |
H174Q |
probably benign |
Het |
Reln |
G |
A |
5: 22,125,436 (GRCm39) |
T2749M |
probably damaging |
Het |
Scarf1 |
A |
G |
11: 75,412,783 (GRCm39) |
N384S |
probably damaging |
Het |
Scrt1 |
T |
A |
15: 76,403,150 (GRCm39) |
H280L |
unknown |
Het |
Serpina1f |
C |
A |
12: 103,659,943 (GRCm39) |
C113F |
probably damaging |
Het |
Setdb2 |
A |
T |
14: 59,639,742 (GRCm39) |
|
probably benign |
Het |
Strc |
A |
G |
2: 121,205,779 (GRCm39) |
L830P |
probably damaging |
Het |
Tifab |
T |
C |
13: 56,324,198 (GRCm39) |
S82G |
probably benign |
Het |
Tmem217 |
T |
A |
17: 29,745,322 (GRCm39) |
H136L |
probably damaging |
Het |
Trio |
T |
C |
15: 27,773,087 (GRCm39) |
E715G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,774,360 (GRCm39) |
M2182K |
probably damaging |
Het |
Ube2d1 |
T |
C |
10: 71,098,082 (GRCm39) |
D12G |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,621,086 (GRCm39) |
D195G |
probably benign |
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 |
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 |
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 |
|
Posted On |
2014-01-21 |