Incidental Mutation 'IGL01967:Bco2'
| ID |
181580 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bco2
|
| Ensembl Gene |
ENSMUSG00000032066 |
| Gene Name |
beta-carotene oxygenase 2 |
| Synonyms |
Bcdo2, Bcmo2, beta-diox-II, B-diox-II, CMO2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
50444387-50466481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50446809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 448
(I448T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119103]
|
| AlphaFold |
Q99NF1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119103
AA Change: I448T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112727
Gene: ENSMUSG00000032066
AA Change: I448T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
14 |
531 |
1.3e-116 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216563
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased spleen weight, decreased testis and seminal vesicle weight, and increased tissue lycopene and beta-carotene levels when fed diets containing tomato powder or lycopene. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,831,707 (GRCm39) |
L1215P |
probably damaging |
Het |
| Abce1 |
T |
C |
8: 80,412,620 (GRCm39) |
D569G |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,339 (GRCm39) |
V652A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 104,868,762 (GRCm39) |
H84Q |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,095,209 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,633,951 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,202,649 (GRCm39) |
N142Y |
probably damaging |
Het |
| Gnaq |
C |
T |
19: 16,355,524 (GRCm39) |
R247C |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,896 (GRCm39) |
E282V |
probably damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,430 (GRCm39) |
S91P |
probably damaging |
Het |
| Lmtk2 |
C |
A |
5: 144,119,597 (GRCm39) |
H1353N |
probably benign |
Het |
| Magi1 |
G |
T |
6: 93,685,115 (GRCm39) |
H526Q |
probably damaging |
Het |
| Mecr |
A |
G |
4: 131,589,192 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
T |
C |
11: 97,565,603 (GRCm39) |
F630L |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,464,983 (GRCm39) |
N274S |
probably damaging |
Het |
| Nmi |
T |
C |
2: 51,846,052 (GRCm39) |
|
probably null |
Het |
| Or7e170 |
A |
G |
9: 19,794,885 (GRCm39) |
S239P |
probably damaging |
Het |
| Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,303,524 (GRCm39) |
N1681K |
possibly damaging |
Het |
| Ptch2 |
T |
C |
4: 116,971,430 (GRCm39) |
|
probably benign |
Het |
| Sc5d |
A |
T |
9: 42,169,930 (GRCm39) |
L97Q |
possibly damaging |
Het |
| Scaf8 |
T |
A |
17: 3,247,213 (GRCm39) |
N845K |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,863,678 (GRCm39) |
K284E |
probably damaging |
Het |
| Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,596 (GRCm39) |
I192T |
probably damaging |
Het |
| Syne2 |
A |
C |
12: 75,988,077 (GRCm39) |
D1745A |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,439,386 (GRCm39) |
T123A |
probably damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,275,348 (GRCm39) |
V236D |
probably benign |
Het |
| Zfp438 |
T |
C |
18: 5,214,049 (GRCm39) |
E303G |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,786,109 (GRCm39) |
Q146R |
probably damaging |
Het |
| Zfp972 |
A |
T |
2: 177,563,495 (GRCm39) |
N38K |
probably damaging |
Het |
|
| Other mutations in Bco2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01807:Bco2
|
APN |
9 |
50,457,158 (GRCm39) |
splice site |
probably benign |
|
|
IGL02793:Bco2
|
APN |
9 |
50,455,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Bco2
|
UTSW |
9 |
50,445,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Bco2
|
UTSW |
9 |
50,457,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Bco2
|
UTSW |
9 |
50,447,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1546:Bco2
|
UTSW |
9 |
50,461,929 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1795:Bco2
|
UTSW |
9 |
50,452,469 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1892:Bco2
|
UTSW |
9 |
50,461,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Bco2
|
UTSW |
9 |
50,457,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Bco2
|
UTSW |
9 |
50,444,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3000:Bco2
|
UTSW |
9 |
50,450,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Bco2
|
UTSW |
9 |
50,456,666 (GRCm39) |
missense |
probably benign |
|
|
R5456:Bco2
|
UTSW |
9 |
50,456,644 (GRCm39) |
splice site |
probably null |
|
|
R5458:Bco2
|
UTSW |
9 |
50,456,644 (GRCm39) |
splice site |
probably null |
|
|
R8005:Bco2
|
UTSW |
9 |
50,450,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8399:Bco2
|
UTSW |
9 |
50,452,418 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8680:Bco2
|
UTSW |
9 |
50,461,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Bco2
|
UTSW |
9 |
50,461,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Bco2
|
UTSW |
9 |
50,447,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9391:Bco2
|
UTSW |
9 |
50,446,022 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9532:Bco2
|
UTSW |
9 |
50,457,371 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9630:Bco2
|
UTSW |
9 |
50,456,757 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9689:Bco2
|
UTSW |
9 |
50,445,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF015:Bco2
|
UTSW |
9 |
50,457,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation