Incidental Mutation 'IGL02375:Bco1'
| ID |
291078 |
| 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 # |
IGL02375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117840178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 232
(S232Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034308]
[ENSMUST00000167370]
[ENSMUST00000176860]
|
| AlphaFold |
Q9JJS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034308
AA Change: S232Y
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: S232Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167370
AA Change: S232Y
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: S232Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176860
AA Change: S232Y
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: S232Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,813 (GRCm39) |
K76N |
possibly damaging |
Het |
| Agxt |
A |
G |
1: 93,063,425 (GRCm39) |
E109G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,109,299 (GRCm39) |
T325A |
probably benign |
Het |
| Apol7c |
T |
C |
15: 77,413,049 (GRCm39) |
E67G |
probably damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,884 (GRCm39) |
V763D |
probably damaging |
Het |
| Ccdc15 |
T |
C |
9: 37,215,628 (GRCm39) |
D618G |
probably damaging |
Het |
| Cimip1 |
A |
G |
2: 173,364,496 (GRCm39) |
M14V |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,783,312 (GRCm39) |
N1603S |
unknown |
Het |
| Cyp4v3 |
A |
G |
8: 45,761,411 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,810,346 (GRCm39) |
V870E |
probably damaging |
Het |
| Epn2 |
A |
G |
11: 61,410,497 (GRCm39) |
V512A |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,504,185 (GRCm39) |
R321G |
probably damaging |
Het |
| Garin3 |
G |
T |
11: 46,297,379 (GRCm39) |
V228L |
probably damaging |
Het |
| Gprasp1 |
T |
C |
X: 134,701,552 (GRCm39) |
S582P |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,291,821 (GRCm39) |
V303A |
probably damaging |
Het |
| Grik1 |
A |
T |
16: 87,743,444 (GRCm39) |
F594L |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,925 (GRCm39) |
K722E |
probably benign |
Het |
| Htr5b |
G |
A |
1: 121,455,564 (GRCm39) |
R119C |
probably damaging |
Het |
| Ifit2 |
T |
C |
19: 34,551,737 (GRCm39) |
S426P |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,978,698 (GRCm39) |
Y234C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,222,598 (GRCm39) |
F511I |
probably benign |
Het |
| Mtfmt |
T |
C |
9: 65,346,849 (GRCm39) |
W148R |
probably damaging |
Het |
| Myo1c |
C |
A |
11: 75,552,400 (GRCm39) |
T391N |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,004,339 (GRCm39) |
L710* |
probably null |
Het |
| Nlrp1b |
A |
G |
11: 71,052,506 (GRCm39) |
I971T |
probably damaging |
Het |
| Nup43 |
A |
G |
10: 7,549,358 (GRCm39) |
D171G |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,305 (GRCm39) |
E20G |
probably benign |
Het |
| P2rx7 |
T |
C |
5: 122,811,719 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,338,473 (GRCm39) |
Y512N |
probably benign |
Het |
| Poli |
C |
T |
18: 70,656,363 (GRCm39) |
G155R |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,471,405 (GRCm39) |
S220G |
possibly damaging |
Het |
| Rgn |
C |
T |
X: 20,416,700 (GRCm39) |
S28L |
probably damaging |
Het |
| Tcp11l2 |
G |
A |
10: 84,440,932 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
G |
A |
7: 96,353,344 (GRCm39) |
V379I |
possibly damaging |
Het |
| Thsd7a |
A |
T |
6: 12,343,264 (GRCm39) |
C1118S |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,667,664 (GRCm39) |
Y776H |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,774,418 (GRCm39) |
N222S |
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,941,403 (GRCm39) |
R397C |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,672 (GRCm39) |
T259S |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,149,423 (GRCm39) |
S2P |
possibly damaging |
Het |
|
| Other mutations in Bco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Bco1
|
APN |
8 |
117,857,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation