Incidental Mutation 'IGL00981:Cyp2b19'
ID |
27948 |
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 # |
IGL00981
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
26456567-26472055 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26462886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 256
(T256I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077855]
|
AlphaFold |
O55071 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077855
AA Change: T256I
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000077021 Gene: ENSMUSG00000066704 AA Change: T256I
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
G |
A |
18: 70,586,404 (GRCm39) |
Q478* |
probably null |
Het |
Armh4 |
A |
T |
14: 50,010,447 (GRCm39) |
L420Q |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,517,543 (GRCm39) |
|
probably null |
Het |
Bcan |
T |
A |
3: 87,905,139 (GRCm39) |
I2F |
possibly damaging |
Het |
Boc |
A |
G |
16: 44,312,164 (GRCm39) |
S633P |
probably damaging |
Het |
C2cd6 |
A |
G |
1: 59,117,104 (GRCm39) |
S130P |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,275,182 (GRCm39) |
F490L |
probably damaging |
Het |
Carm1 |
T |
A |
9: 21,498,490 (GRCm39) |
D469E |
possibly damaging |
Het |
Cdyl |
A |
T |
13: 36,000,096 (GRCm39) |
S126C |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,479,458 (GRCm39) |
I192F |
probably benign |
Het |
Dlgap5 |
C |
T |
14: 47,635,925 (GRCm39) |
E515K |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,755,049 (GRCm39) |
D1044E |
unknown |
Het |
Eif3i |
T |
A |
4: 129,488,862 (GRCm39) |
Y125F |
probably benign |
Het |
Gnai1 |
T |
G |
5: 18,472,045 (GRCm39) |
N346T |
probably benign |
Het |
Kcnd1 |
C |
T |
X: 7,702,672 (GRCm39) |
T629I |
probably benign |
Het |
Mcc |
A |
T |
18: 44,582,416 (GRCm39) |
N578K |
probably damaging |
Het |
Ncoa6 |
C |
T |
2: 155,248,099 (GRCm39) |
R1735Q |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,116,021 (GRCm39) |
|
noncoding transcript |
Het |
Nsun5 |
A |
T |
5: 135,404,249 (GRCm39) |
Q352L |
possibly damaging |
Het |
Or14j6 |
G |
A |
17: 38,215,072 (GRCm39) |
V212M |
probably benign |
Het |
Or2d2b |
C |
A |
7: 106,705,268 (GRCm39) |
E267* |
probably null |
Het |
Or2d2b |
T |
A |
7: 106,705,269 (GRCm39) |
K266N |
probably benign |
Het |
Or8g18 |
A |
G |
9: 39,148,901 (GRCm39) |
V276A |
probably benign |
Het |
Pkdrej |
C |
T |
15: 85,703,857 (GRCm39) |
G693D |
probably damaging |
Het |
Rpl10a-ps2 |
A |
T |
13: 8,990,566 (GRCm39) |
|
probably benign |
Het |
Spink1 |
C |
T |
18: 43,870,159 (GRCm39) |
|
probably null |
Het |
Sqle |
T |
C |
15: 59,198,468 (GRCm39) |
V464A |
probably damaging |
Het |
Trav6-4 |
A |
T |
14: 53,692,153 (GRCm39) |
T84S |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,259,311 (GRCm39) |
|
probably benign |
Het |
Txlng |
T |
C |
X: 161,567,368 (GRCm39) |
M319V |
probably benign |
Het |
Wee1 |
A |
T |
7: 109,738,876 (GRCm39) |
E582D |
probably damaging |
Het |
|
Other mutations in Cyp2b19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |