Incidental Mutation 'IGL00886:Bco1'
| ID |
27972 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bco1
|
| Ensembl Gene |
ENSMUSG00000031845 |
| Gene Name |
beta-carotene oxygenase 1 |
| Synonyms |
Bcdo, Cmoi, Bcdo1, Bcmo1, beta-CD, betaCMOOX |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL00886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117857376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 448
(W448R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034308]
[ENSMUST00000167370]
[ENSMUST00000176860]
|
| AlphaFold |
Q9JJS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034308
AA Change: W448R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: W448R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167370
AA Change: W448R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: W448R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176860
AA Change: W448R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: W448R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176943
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. Two alternatively spliced variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a null mutation display fatty livers, elevated serum free fatty acid levels, increased susceptibility to diet-induced obesity, and impaired conversion of beta-carotene to vitamin A. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,054,101 (GRCm39) |
R67H |
possibly damaging |
Het |
| Ak4 |
G |
T |
4: 101,304,386 (GRCm39) |
E59* |
probably null |
Het |
| Ano10 |
T |
C |
9: 122,100,390 (GRCm39) |
N116S |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,177,254 (GRCm39) |
H658Q |
probably damaging |
Het |
| Atf2 |
G |
A |
2: 73,675,847 (GRCm39) |
T208I |
possibly damaging |
Het |
| Cel |
A |
T |
2: 28,449,397 (GRCm39) |
C277S |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,444,156 (GRCm39) |
D296E |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,507,714 (GRCm39) |
|
probably null |
Het |
| Gdpgp1 |
T |
G |
7: 79,889,100 (GRCm39) |
L377R |
probably damaging |
Het |
| Gm26938 |
T |
A |
5: 139,812,091 (GRCm39) |
D3V |
probably damaging |
Het |
| Gpld1 |
T |
A |
13: 25,146,336 (GRCm39) |
Y193* |
probably null |
Het |
| Gtf2h4 |
T |
C |
17: 35,980,874 (GRCm39) |
H265R |
probably damaging |
Het |
| Hadh |
G |
T |
3: 131,043,465 (GRCm39) |
T83K |
probably benign |
Het |
| Hao1 |
T |
C |
2: 134,365,079 (GRCm39) |
M183V |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,715,525 (GRCm39) |
Y523H |
probably damaging |
Het |
| Il23r |
G |
T |
6: 67,450,874 (GRCm39) |
Q202K |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,540,444 (GRCm38) |
D50A |
probably benign |
Het |
| Katnal2 |
A |
T |
18: 77,090,450 (GRCm39) |
L248Q |
probably damaging |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,267 (GRCm39) |
V118E |
possibly damaging |
Het |
| Lzic |
T |
C |
4: 149,577,753 (GRCm39) |
|
probably null |
Het |
| Meak7 |
T |
C |
8: 120,500,007 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,914,279 (GRCm39) |
N316K |
probably benign |
Het |
| Ndufc2 |
T |
A |
7: 97,049,397 (GRCm39) |
M1K |
probably null |
Het |
| Net1 |
A |
G |
13: 3,943,391 (GRCm39) |
|
probably benign |
Het |
| Or13g1 |
G |
A |
7: 85,956,259 (GRCm39) |
L21F |
probably damaging |
Het |
| Pde1c |
A |
G |
6: 56,150,659 (GRCm39) |
Y287H |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,665 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
T |
A |
2: 60,254,668 (GRCm39) |
E1300V |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,842,796 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,723,654 (GRCm39) |
E4137V |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,920,643 (GRCm39) |
D1425G |
possibly damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,174,376 (GRCm39) |
Y23H |
possibly damaging |
Het |
| Spef2 |
C |
A |
15: 9,663,181 (GRCm39) |
G867W |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,656,933 (GRCm39) |
Y698N |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,934,485 (GRCm39) |
F533I |
probably damaging |
Het |
|
| Other mutations in Bco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01934:Bco1
|
APN |
8 |
117,822,784 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02182:Bco1
|
APN |
8 |
117,859,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Bco1
|
APN |
8 |
117,840,178 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02705:Bco1
|
APN |
8 |
117,844,242 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
H8562:Bco1
|
UTSW |
8 |
117,832,386 (GRCm39) |
splice site |
probably benign |
|
|
R0453:Bco1
|
UTSW |
8 |
117,835,516 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0652:Bco1
|
UTSW |
8 |
117,832,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Bco1
|
UTSW |
8 |
117,835,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Bco1
|
UTSW |
8 |
117,857,347 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1827:Bco1
|
UTSW |
8 |
117,832,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Bco1
|
UTSW |
8 |
117,844,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2261:Bco1
|
UTSW |
8 |
117,859,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2262:Bco1
|
UTSW |
8 |
117,859,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Bco1
|
UTSW |
8 |
117,835,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2274:Bco1
|
UTSW |
8 |
117,835,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3037:Bco1
|
UTSW |
8 |
117,854,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3792:Bco1
|
UTSW |
8 |
117,857,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3926:Bco1
|
UTSW |
8 |
117,854,211 (GRCm39) |
missense |
probably benign |
|
|
R4193:Bco1
|
UTSW |
8 |
117,840,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Bco1
|
UTSW |
8 |
117,855,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4968:Bco1
|
UTSW |
8 |
117,857,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5277:Bco1
|
UTSW |
8 |
117,844,128 (GRCm39) |
splice site |
probably null |
|
|
R5523:Bco1
|
UTSW |
8 |
117,835,432 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6006:Bco1
|
UTSW |
8 |
117,840,330 (GRCm39) |
splice site |
probably null |
|
|
R6174:Bco1
|
UTSW |
8 |
117,840,273 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6458:Bco1
|
UTSW |
8 |
117,854,245 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6815:Bco1
|
UTSW |
8 |
117,840,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7731:Bco1
|
UTSW |
8 |
117,857,807 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7779:Bco1
|
UTSW |
8 |
117,844,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8087:Bco1
|
UTSW |
8 |
117,835,501 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8940:Bco1
|
UTSW |
8 |
117,857,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9083:Bco1
|
UTSW |
8 |
117,844,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9094:Bco1
|
UTSW |
8 |
117,859,917 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9381:Bco1
|
UTSW |
8 |
117,837,631 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2013-04-17 |
Incidental Mutation