Incidental Mutation 'R3792:Bco1'
| ID |
272592 |
| Institutional Source |
Beutler Lab
|
| 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: 0.135)
|
| Stock # |
R3792 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
117822593-117860459 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 117857415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 461
(V461I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034308]
[ENSMUST00000167370]
[ENSMUST00000176860]
|
| AlphaFold |
Q9JJS6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034308
AA Change: V461I
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: V461I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
5 |
519 |
9e-114 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167370
AA Change: V461I
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: V461I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176860
AA Change: V461I
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: V461I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RPE65
|
2 |
472 |
4.9e-117 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176943
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595M18Rik |
A |
G |
X: 80,464,423 (GRCm39) |
V428A |
probably benign |
Het |
| Aanat |
T |
C |
11: 116,487,057 (GRCm39) |
L88P |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,566,671 (GRCm39) |
N1214I |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,117,543 (GRCm39) |
S192T |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cripto |
C |
T |
9: 110,772,258 (GRCm39) |
R46Q |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,432,725 (GRCm39) |
R1199C |
probably damaging |
Het |
| Dcaf12l1 |
T |
C |
X: 43,877,313 (GRCm39) |
N495S |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,568,734 (GRCm39) |
Q1599K |
possibly damaging |
Het |
| Dyrk1a |
C |
A |
16: 94,485,933 (GRCm39) |
L427I |
probably benign |
Het |
| Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
| Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,328,971 (GRCm39) |
|
probably null |
Het |
| Fam135a |
T |
C |
1: 24,067,392 (GRCm39) |
Y259C |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,666,533 (GRCm39) |
|
probably null |
Het |
| Fbxo43 |
T |
C |
15: 36,163,005 (GRCm39) |
I67M |
probably benign |
Het |
| Gcfc2 |
G |
T |
6: 81,907,748 (GRCm39) |
C154F |
probably benign |
Het |
| Hipk2 |
C |
T |
6: 38,675,491 (GRCm39) |
R1029H |
probably damaging |
Het |
| Ilk |
G |
A |
7: 105,391,294 (GRCm39) |
W73* |
probably null |
Het |
| Ism1 |
T |
C |
2: 139,582,173 (GRCm39) |
S162P |
probably damaging |
Het |
| Itpkb |
T |
A |
1: 180,160,738 (GRCm39) |
L288Q |
possibly damaging |
Het |
| Itpr2 |
C |
A |
6: 146,316,852 (GRCm39) |
K306N |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,374,540 (GRCm39) |
E864K |
possibly damaging |
Het |
| Kdm4b |
G |
A |
17: 56,662,944 (GRCm39) |
V172M |
probably damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,605 (GRCm39) |
K406M |
probably null |
Het |
| Lipe |
T |
A |
7: 25,097,045 (GRCm39) |
K299N |
possibly damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
| Mptx2 |
T |
A |
1: 173,102,240 (GRCm39) |
I150F |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,953,102 (GRCm39) |
W612L |
probably damaging |
Het |
| Mucl2 |
T |
C |
15: 103,928,692 (GRCm39) |
T27A |
possibly damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
| Oprm1 |
T |
C |
10: 6,789,544 (GRCm39) |
S390P |
probably benign |
Het |
| Or2m12 |
A |
G |
16: 19,104,696 (GRCm39) |
S266P |
possibly damaging |
Het |
| Or51v8 |
A |
T |
7: 103,319,353 (GRCm39) |
I295N |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,715 (GRCm39) |
L607P |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,721 (GRCm39) |
I133N |
probably damaging |
Het |
| Rasl10a |
T |
C |
11: 5,009,461 (GRCm39) |
L83S |
probably damaging |
Het |
| Satb2 |
C |
T |
1: 56,884,779 (GRCm39) |
V382M |
probably damaging |
Het |
| Sh3gl1 |
T |
C |
17: 56,325,949 (GRCm39) |
K160R |
probably damaging |
Het |
| Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,704,622 (GRCm39) |
I454T |
probably damaging |
Het |
| Stag3 |
A |
G |
5: 138,296,611 (GRCm39) |
K490E |
probably benign |
Het |
| Tcstv7b |
G |
T |
13: 120,702,467 (GRCm39) |
V88F |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,600,155 (GRCm39) |
K95R |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,231 (GRCm39) |
E511V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,232 (GRCm39) |
F25258L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,639,290 (GRCm39) |
C13828G |
probably damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,573 (GRCm39) |
M238L |
probably damaging |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,891 (GRCm39) |
I75T |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
| Vwa7 |
T |
C |
17: 35,244,135 (GRCm39) |
|
probably null |
Het |
| Zfp128 |
T |
A |
7: 12,618,659 (GRCm39) |
D52E |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,033,728 (GRCm39) |
|
probably benign |
Het |
| Zkscan2 |
T |
A |
7: 123,084,225 (GRCm39) |
E633V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGCCTTCTGTAAGCCAG -3'
(R):5'- AGGAGCCCTTGACCTTACAC -3'
Sequencing Primer
(F):5'- ATAAGTGTGAGGGCTGAATTTCCCC -3'
(R):5'- CTCAACATTAAAATTGAGTGTGGTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation