Mutagenetix > Incidental Mutation

Incidental Mutation 'R4661:Bco1'

352859

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

041600-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4661 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117822593-117860459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117855980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 425 (E425G)

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: E425G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: E425G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167370
AA Change: E425G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: E425G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176860
AA Change: E425G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: E425G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176943

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	C	9: 44,198,627 (GRCm39)	N42D	probably damaging	Het
Adamdec1	G	A	14: 68,807,562 (GRCm39)	T366I	probably damaging	Het
Adamts7	C	A	9: 90,075,383 (GRCm39)	H1038Q	probably benign	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Amhr2	A	T	15: 102,362,688 (GRCm39)	D485V	probably damaging	Het
Arhgap35	A	T	7: 16,298,663 (GRCm39)	F134Y	probably damaging	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
Atp10a	TGGCGGCGGC	TGGCGGC	7: 58,308,248 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Atp9a	A	G	2: 168,479,592 (GRCm39)	F928L	possibly damaging	Het
BC034090	A	T	1: 155,108,221 (GRCm39)	D13E	probably damaging	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
C1s1	T	C	6: 124,513,449 (GRCm39)	I193V	probably benign	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Catsperz	T	G	19: 6,902,171 (GRCm39)	T108P	probably benign	Het
Cep57l1	T	A	10: 41,595,767 (GRCm39)	D329V	possibly damaging	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chrna2	G	A	14: 66,386,292 (GRCm39)	G146D	probably damaging	Het
Col6a1	A	C	10: 76,550,506 (GRCm39)	F520V	unknown	Het
Cyb5d2	C	A	11: 72,669,771 (GRCm39)	V43L	probably damaging	Het
Cyp2c40	T	C	19: 39,775,290 (GRCm39)	T321A	probably benign	Het
Dnajc16	A	C	4: 141,490,859 (GRCm39)	Y764D	probably damaging	Het
Dsg1a	G	A	18: 20,473,590 (GRCm39)	V888M	probably damaging	Het
F5	A	C	1: 164,012,489 (GRCm39)	T468P	probably damaging	Het
Faap24	A	G	7: 35,094,509 (GRCm39)	M97T	probably benign	Het
Fam227b	A	T	2: 125,849,230 (GRCm39)	I334N	probably damaging	Het
Frem2	G	T	3: 53,562,864 (GRCm39)	P548T	probably damaging	Het
Gfm1	A	G	3: 67,340,731 (GRCm39)	E94G	probably damaging	Het
Gm17606	A	T	14: 54,885,696 (GRCm39)		probably benign	Het
Gnb2	A	T	5: 137,528,515 (GRCm39)	M1K	probably null	Het
Gys1	G	A	7: 45,104,258 (GRCm39)	A544T	probably damaging	Het
Hdac5	T	C	11: 102,096,675 (GRCm39)	Y230C	probably damaging	Het
Hunk	A	T	16: 90,244,196 (GRCm39)		probably null	Het
Ifnl2	A	G	7: 28,209,635 (GRCm39)	F51L	probably damaging	Het
Itpr1	T	C	6: 108,387,892 (GRCm39)		probably null	Het
Kcnj1	A	G	9: 32,307,918 (GRCm39)	Y114C	probably benign	Het
Kdm4b	T	A	17: 56,706,459 (GRCm39)	S322T	probably damaging	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Kif6	T	C	17: 50,060,909 (GRCm39)	V414A	probably benign	Het
L1td1	A	G	4: 98,621,861 (GRCm39)	K141R	possibly damaging	Het
Loxhd1	A	G	18: 77,490,581 (GRCm39)	I1394V	possibly damaging	Het
Lrfn5	A	T	12: 61,886,433 (GRCm39)	M74L	probably damaging	Het
Lrp6	C	T	6: 134,488,230 (GRCm39)	D289N	probably benign	Het
Mroh7	A	G	4: 106,548,710 (GRCm39)		probably null	Het
Muc4	A	C	16: 32,589,651 (GRCm39)	E2885A	possibly damaging	Het
Myo18b	G	T	5: 113,023,041 (GRCm39)		probably benign	Het
Ncln	G	A	10: 81,328,902 (GRCm39)	A172V	probably damaging	Het
Nek9	G	A	12: 85,367,666 (GRCm39)	T335M	possibly damaging	Het
Notch2	A	G	3: 98,042,829 (GRCm39)	Y1398C	probably damaging	Het
Or10g6	A	T	9: 39,933,823 (GRCm39)	I45F	probably damaging	Het
Or2d4	T	A	7: 106,544,074 (GRCm39)	I45F	probably damaging	Het
Or5p52	A	T	7: 107,502,188 (GRCm39)	H88L	probably benign	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pde6c	A	G	19: 38,157,887 (GRCm39)	Y637C	probably damaging	Het
Plppr5	A	G	3: 117,414,618 (GRCm39)	I80V	probably damaging	Het
Pold1	G	T	7: 44,182,233 (GRCm39)	P1100T	probably damaging	Het
Prune2	T	C	19: 16,977,387 (GRCm39)	Y41H	probably damaging	Het
Rgl2	C	T	17: 34,152,200 (GRCm39)	A329V	possibly damaging	Het
Rilp	T	A	11: 75,402,250 (GRCm39)	Y250N	probably damaging	Het
Rilpl1	A	G	5: 124,652,751 (GRCm39)	V19A	probably benign	Het
Rtp3	T	C	9: 110,815,519 (GRCm39)		probably null	Het
Rufy4	A	G	1: 74,172,266 (GRCm39)	K246E	probably damaging	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Slc26a8	A	T	17: 28,857,658 (GRCm39)	N828K	probably benign	Het
Src	C	T	2: 157,311,852 (GRCm39)	P527S	probably damaging	Het
Susd3	C	T	13: 49,384,778 (GRCm39)		probably null	Het
Syngap1	T	C	17: 27,185,880 (GRCm39)	L1270P	probably damaging	Het
Taf1c	G	A	8: 120,325,589 (GRCm39)	P758S	probably damaging	Het
Tenm2	A	T	11: 35,915,275 (GRCm39)	N2087K	probably damaging	Het
Tfrc	A	T	16: 32,448,969 (GRCm39)	I703F	probably damaging	Het
Thap1	C	G	8: 26,650,874 (GRCm39)	T48S	probably benign	Het
Tspear	T	C	10: 77,702,163 (GRCm39)	F199L	probably benign	Het
Usp17lc	A	T	7: 103,067,797 (GRCm39)	H364L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vmn1r1	T	C	1: 181,984,789 (GRCm39)	E292G	possibly damaging	Het
Vmn1r125	T	G	7: 21,006,552 (GRCm39)	V150G	probably damaging	Het
Vmn1r167	A	T	7: 23,204,117 (GRCm39)	L300I	probably damaging	Het
Vmn2r106	A	C	17: 20,487,885 (GRCm39)	I838S	probably benign	Het
Wdr64	A	T	1: 175,554,060 (GRCm39)	S197C	probably damaging	Het
Zfp248	A	T	6: 118,410,268 (GRCm39)	V47E	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
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
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'- TCTGGGTCTGAATCAAGGCTAG -3'
(R):5'- AGGGCTCCCTAAGTGCAAAC -3'

Sequencing Primer
(F):5'- CTGAATCAAGGCTAGGATAGTACTTG -3'
(R):5'- AGGAACAGAACTCTTACTTCAGG -3'

Posted On

2015-10-08