Mutagenetix > Incidental Mutations

Incidental Mutation 'R3792:Bco1'

272592

Institutional Source

Beutler Lab

Gene Symbol

Bco1

Ensembl Gene

ENSMUSG00000031845

Gene Name

beta-carotene oxygenase 1

Synonyms

Bcdo1, betaCMOOX, Bcmo1, Bcdo, beta-CD, Cmoi

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R3792 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117095854-117133720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117130676 bp

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]

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: 81,420,817	V428A	probably benign	Het
Aanat	T	C	11: 116,596,231	L88P	probably damaging	Het
Arhgap5	A	T	12: 52,519,888	N1214I	probably benign	Het
BC034090	A	T	1: 155,241,797	S192T	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Cubn	G	A	2: 13,427,914	R1199C	probably damaging	Het
Dcaf12l1	T	C	X: 44,788,436	N495S	possibly damaging	Het
Dopey2	C	A	16: 93,771,846	Q1599K	possibly damaging	Het
Dyrk1a	C	A	16: 94,685,074	L427I	probably benign	Het
Esp16	T	C	17: 39,537,848	I11T	possibly damaging	Het
Esyt3	A	T	9: 99,315,281	F832Y	possibly damaging	Het
F8	A	T	X: 75,285,365		probably null	Het
Fam135a	T	C	1: 24,028,311	Y259C	probably benign	Het
Fbxo38	T	C	18: 62,533,462		probably null	Het
Fbxo43	T	C	15: 36,162,859	I67M	probably benign	Het
Gcfc2	G	T	6: 81,930,767	C154F	probably benign	Het
Gm21731	G	T	13: 120,240,931	V88F	probably damaging	Het
Hipk2	C	T	6: 38,698,556	R1029H	probably damaging	Het
Ilk	G	A	7: 105,742,087	W73*	probably null	Het
Ism1	T	C	2: 139,740,253	S162P	probably damaging	Het
Itpkb	T	A	1: 180,333,173	L288Q	possibly damaging	Het
Itpr2	C	A	6: 146,415,354	K306N	probably damaging	Het
Kdm2a	C	T	19: 4,324,512	E864K	possibly damaging	Het
Kdm4b	G	A	17: 56,355,944	V172M	probably damaging	Het
Kyat3	A	T	3: 142,737,844	K406M	probably null	Het
Lipe	T	A	7: 25,397,620	K299N	possibly damaging	Het
Lrrc2	T	A	9: 110,966,517	C123*	probably null	Het
Mptx2	T	A	1: 173,274,673	I150F	probably damaging	Het
Mroh2b	G	T	15: 4,923,620	W612L	probably damaging	Het
Mucl2	T	C	15: 103,898,426	T27A	possibly damaging	Het
Nfx1	T	A	4: 41,004,357	C709*	probably null	Het
Olfr164	A	G	16: 19,285,946	S266P	possibly damaging	Het
Olfr624	A	T	7: 103,670,146	I295N	probably damaging	Het
Oprm1	T	C	10: 6,839,544	S390P	probably benign	Het
Pcdhb14	T	C	18: 37,449,662	L607P	probably damaging	Het
Rap1gds1	A	T	3: 138,965,960	I133N	probably damaging	Het
Rasl10a	T	C	11: 5,059,461	L83S	probably damaging	Het
Satb2	C	T	1: 56,845,620	V382M	probably damaging	Het
Sh3gl1	T	C	17: 56,018,949	K160R	probably damaging	Het
Sirt4	T	C	5: 115,480,292	D241G	probably benign	Het
Sla2	G	A	2: 156,875,942	R137C	probably damaging	Het
Spef2	A	G	15: 9,704,536	I454T	probably damaging	Het
Stag3	A	G	5: 138,298,349	K490E	probably benign	Het
Tctn3	T	C	19: 40,611,711	K95R	probably benign	Het
Tdgf1	C	T	9: 110,943,190	R46Q	probably benign	Het
Trp53bp1	T	C	2: 121,200,329	I1784V	probably damaging	Het
Ttc21a	A	T	9: 119,954,165	E511V	probably damaging	Het
Ttn	A	G	2: 76,711,888	F25258L	probably damaging	Het
Ttn	A	C	2: 76,808,946	C13828G	probably damaging	Het
Vmn1r210	T	A	13: 22,827,403	M238L	probably damaging	Het
Vmn1r38	A	G	6: 66,776,907	I75T	probably benign	Het
Vmn2r84	T	A	10: 130,385,800	*850C	probably null	Het
Vwa7	T	C	17: 35,025,159		probably null	Het
Zfp128	T	A	7: 12,884,732	D52E	probably damaging	Het
Zfp618	T	C	4: 63,115,491		probably benign	Het
Zkscan2	T	A	7: 123,485,002	E633V	possibly damaging	Het

Other mutations in Bco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Bco1	APN	8	117130637	missense	probably damaging	1.00
IGL01934:Bco1	APN	8	117096045	missense	possibly damaging	0.90
IGL02182:Bco1	APN	8	117133066	missense	probably damaging	1.00
IGL02375:Bco1	APN	8	117113439	missense	probably benign	0.13
IGL02705:Bco1	APN	8	117117503	missense	possibly damaging	0.95
H8562:Bco1	UTSW	8	117105647	splice site	probably benign
R0453:Bco1	UTSW	8	117108777	missense	possibly damaging	0.55
R0652:Bco1	UTSW	8	117105696	missense	probably damaging	1.00
R1619:Bco1	UTSW	8	117108715	missense	probably damaging	1.00
R1772:Bco1	UTSW	8	117130608	missense	probably benign	0.03
R1827:Bco1	UTSW	8	117105759	missense	probably damaging	1.00
R1834:Bco1	UTSW	8	117117437	missense	probably benign	0.01
R2261:Bco1	UTSW	8	117133025	missense	probably damaging	1.00
R2262:Bco1	UTSW	8	117133025	missense	probably damaging	1.00
R2273:Bco1	UTSW	8	117108783	critical splice donor site	probably null
R2274:Bco1	UTSW	8	117108783	critical splice donor site	probably null
R3037:Bco1	UTSW	8	117127539	missense	probably benign	0.00
R3926:Bco1	UTSW	8	117127472	missense	probably benign
R4193:Bco1	UTSW	8	117113469	missense	probably damaging	1.00
R4661:Bco1	UTSW	8	117129241	missense	probably benign	0.00
R4968:Bco1	UTSW	8	117131094	missense	probably benign	0.00
R5277:Bco1	UTSW	8	117117389	splice site	probably null
R5523:Bco1	UTSW	8	117108693	missense	possibly damaging	0.67
R6006:Bco1	UTSW	8	117113591	splice site	probably null
R6174:Bco1	UTSW	8	117113534	missense	probably damaging	0.97
R6458:Bco1	UTSW	8	117127506	missense	possibly damaging	0.50
R6815:Bco1	UTSW	8	117113522	missense	probably benign	0.00
R7731:Bco1	UTSW	8	117131068	missense	possibly damaging	0.73
R7779:Bco1	UTSW	8	117117396	missense	probably damaging	0.99

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