Mutagenetix > Incidental Mutation

Incidental Mutation 'R4968:Bco1'

384191

Institutional Source

Beutler Lab

Gene Symbol

Bco1

Ensembl Gene

ENSMUSG00000031845

Gene Name

beta-carotene oxygenase 1

Synonyms

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

MMRRC Submission

042564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117822593-117860459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117857833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 486 (H486L)

Ref Sequence

ENSEMBL: ENSMUSP00000134815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034308] [ENSMUST00000167370] [ENSMUST00000176860]

AlphaFold

Q9JJS6

Predicted Effect

probably benign
Transcript: ENSMUST00000034308

SMART Domains

Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845

Domain	Start	End	E-Value	Type
Pfam:RPE65	5	519	9e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167370
AA Change: H486L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: H486L

Domain	Start	End	E-Value	Type
Pfam:RPE65	2	472	4.9e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176860
AA Change: H486L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: H486L

Domain	Start	End	E-Value	Type
Pfam:RPE65	2	472	4.9e-117	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,769,616 (GRCm39)	K53*	probably null	Het
4921513D11Rik	T	C	17: 79,935,651 (GRCm39)	S255P	probably benign	Het
Ace	A	G	11: 105,872,679 (GRCm39)	N367S	possibly damaging	Het
Agl	A	T	3: 116,582,175 (GRCm39)	N282K	probably benign	Het
Ahnak	C	A	19: 8,992,464 (GRCm39)	P4583T	probably damaging	Het
Alpi	T	C	1: 87,029,247 (GRCm39)	D4G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Aplnr	T	C	2: 84,967,289 (GRCm39)	Y105H	probably damaging	Het
Arhgap9	G	A	10: 127,162,875 (GRCm39)	R395K	possibly damaging	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Atp5f1b	T	C	10: 127,919,856 (GRCm39)	F75L	probably damaging	Het
B4galt6	G	T	18: 20,861,026 (GRCm39)	N75K	possibly damaging	Het
Btaf1	T	A	19: 36,947,351 (GRCm39)	L480Q	probably null	Het
Ccdc34	G	T	2: 109,871,078 (GRCm39)		probably null	Het
Cdh19	T	C	1: 110,852,958 (GRCm39)	S326G	probably benign	Het
Cep89	A	G	7: 35,109,055 (GRCm39)	D178G	possibly damaging	Het
Cyp11b2	A	T	15: 74,725,854 (GRCm39)		probably null	Het
Cyp21a1	A	G	17: 35,022,383 (GRCm39)	I157T	possibly damaging	Het
Dcbld2	A	G	16: 58,245,074 (GRCm39)	D116G	probably damaging	Het
Ddx5	T	C	11: 106,674,953 (GRCm39)	Q377R	probably damaging	Het
Deup1	T	C	9: 15,503,724 (GRCm39)	D279G	probably damaging	Het
F11	G	A	8: 45,698,770 (GRCm39)	A458V	probably benign	Het
Fhad1	C	A	4: 141,645,618 (GRCm39)	G326W	probably damaging	Het
Fhit	C	T	14: 10,421,522 (GRCm38)	V26M	probably damaging	Het
Gjb5	A	T	4: 127,250,015 (GRCm39)	V43E	probably damaging	Het
Grtp1	A	T	8: 13,242,184 (GRCm39)	I75N	probably damaging	Het
Hmcn1	A	G	1: 150,533,221 (GRCm39)	I3022T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,962 (GRCm39)	T166A	probably benign	Het
Ift70b	T	C	2: 75,768,391 (GRCm39)	I121V	probably benign	Het
Iho1	C	T	9: 108,289,713 (GRCm39)	V170M	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Kcnk10	T	C	12: 98,401,161 (GRCm39)	I491V	probably benign	Het
Kcp	A	T	6: 29,497,628 (GRCm39)	C519*	probably null	Het
Lcmt2	T	C	2: 120,970,217 (GRCm39)	T69A	probably benign	Het
Lmf1	A	G	17: 25,804,592 (GRCm39)	Y90C	probably damaging	Het
Lpp	A	G	16: 24,798,064 (GRCm39)	D612G	probably damaging	Het
Lrfn5	C	A	12: 61,886,461 (GRCm39)	S83Y	probably damaging	Het
Lrp1b	T	C	2: 40,592,719 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,679,074 (GRCm39)	C6Y	probably damaging	Het
Lrrc8c	A	G	5: 105,754,993 (GRCm39)	D256G	probably damaging	Het
Mphosph10	A	G	7: 64,032,656 (GRCm39)	Y478H	probably damaging	Het
Mpp2	T	C	11: 101,955,124 (GRCm39)	H167R	probably benign	Het
Mtss1	A	G	15: 58,815,767 (GRCm39)	S598P	probably damaging	Het
Myh10	A	G	11: 68,684,049 (GRCm39)	E1154G	probably damaging	Het
Myo10	T	C	15: 25,808,270 (GRCm39)	V1218A	probably damaging	Het
Myo19	A	G	11: 84,792,328 (GRCm39)	K599R	probably damaging	Het
Neurl4	T	C	11: 69,798,134 (GRCm39)	M771T	probably damaging	Het
Nlrc4	A	G	17: 74,753,936 (GRCm39)	V149A	probably benign	Het
Nup133	A	T	8: 124,641,935 (GRCm39)	S843T	probably benign	Het
Or2y1c	T	C	11: 49,361,358 (GRCm39)	C127R	probably damaging	Het
Or51k1	T	C	7: 103,661,777 (GRCm39)	N44S	probably damaging	Het
P3h2	A	G	16: 25,811,412 (GRCm39)		probably null	Het
Piezo2	A	T	18: 63,278,042 (GRCm39)	Y287*	probably null	Het
Prob1	T	C	18: 35,785,605 (GRCm39)	Y883C	probably damaging	Het
Pxdn	T	A	12: 30,050,011 (GRCm39)	H506Q	probably benign	Het
Ripor3	T	C	2: 167,827,037 (GRCm39)	D658G	probably benign	Het
Rufy1	T	A	11: 50,301,434 (GRCm39)	I333L	probably benign	Het
Selenok	T	A	14: 29,692,064 (GRCm39)	V34E	probably benign	Het
Selplg	T	C	5: 113,957,787 (GRCm39)	E173G	possibly damaging	Het
Septin10	A	G	10: 59,016,943 (GRCm39)	F194L	probably damaging	Het
Sptbn2	A	T	19: 4,779,230 (GRCm39)		probably null	Het
St6galnac6	C	T	2: 32,498,098 (GRCm39)	P6S	probably benign	Het
Syngr2	T	C	11: 117,704,296 (GRCm39)	Y194H	probably damaging	Het
Thbs4	A	G	13: 92,894,576 (GRCm39)	I649T	possibly damaging	Het
Triobp	T	A	15: 78,850,816 (GRCm39)	N323K	probably benign	Het
Tuba8	T	A	6: 121,197,548 (GRCm39)	L70Q	probably damaging	Het
Vmn2r61	A	G	7: 41,949,478 (GRCm39)	T633A	probably benign	Het
Zfp280b	G	T	10: 75,875,188 (GRCm39)	V356L	probably damaging	Het
Zswim4	A	T	8: 84,944,001 (GRCm39)	V746D	probably benign	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
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
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'- TCTGTAATCCACTAGGGTCCCC -3'
(R):5'- CAGAGGCTGTGAGGTATGTC -3'

Sequencing Primer
(F):5'- TAATCCACTAGGGTCCCCAGAGC -3'
(R):5'- AGGTATGTCAGGTAGTGTATTCTAAC -3'

Posted On

2016-04-27