Mutagenetix > Incidental Mutation

Incidental Mutation 'R0652:Bco1'

62303

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

038837-MU

Accession Numbers

Essential gene?

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

Stock #

R0652 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

117822593-117860459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117832435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000134815 (fasta)

Gene Model

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

AlphaFold

Q9JJS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000034308
AA Change: D77G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: D77G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167370
AA Change: D77G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845
AA Change: D77G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176860
AA Change: D77G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845
AA Change: D77G

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.3%
20x: 90.1%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,042,889 (GRCm39)	N387D	probably benign	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Ahi1	C	A	10: 20,855,360 (GRCm39)	H556Q	probably damaging	Het
Amph	A	G	13: 19,270,791 (GRCm39)		probably null	Het
Apol7a	T	C	15: 77,274,055 (GRCm39)		probably benign	Het
Apoo-ps	A	T	13: 107,550,910 (GRCm39)		noncoding transcript	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Atm	A	G	9: 53,397,314 (GRCm39)	V1673A	probably damaging	Het
B3gnt3	A	T	8: 72,146,466 (GRCm39)	V21E	probably benign	Het
Brinp2	A	T	1: 158,074,191 (GRCm39)	H643Q	probably damaging	Het
Bsn	A	G	9: 107,982,941 (GRCm39)	F3604S	unknown	Het
Cacna1c	A	G	6: 118,579,190 (GRCm39)	F1753L	probably damaging	Het
Cd74	T	C	18: 60,944,957 (GRCm39)	S201P	probably damaging	Het
Cep192	T	A	18: 67,940,336 (GRCm39)	L101Q	probably benign	Het
Cfap161	T	C	7: 83,442,484 (GRCm39)	I110V	probably null	Het
Cnksr3	T	C	10: 7,070,463 (GRCm39)	D257G	probably damaging	Het
Col14a1	A	C	15: 55,208,278 (GRCm39)	E121A	unknown	Het
Cpne3	T	C	4: 19,532,486 (GRCm39)	D309G	probably benign	Het
Ctnnd1	A	G	2: 84,433,240 (GRCm39)	I609T	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
Dpyd	A	G	3: 119,220,924 (GRCm39)	D965G	probably damaging	Het
Efcab2	T	A	1: 178,308,911 (GRCm39)	M138K	probably damaging	Het
Eml3	T	C	19: 8,910,649 (GRCm39)	S204P	probably damaging	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fbxw20	T	G	9: 109,061,400 (GRCm39)	Q116H	probably damaging	Het
Fech	A	G	18: 64,591,240 (GRCm39)	S395P	probably damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Fras1	T	A	5: 96,929,199 (GRCm39)	Y3868N	possibly damaging	Het
Ganab	A	T	19: 8,892,766 (GRCm39)		probably null	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Gja4	T	A	4: 127,205,920 (GRCm39)	Y281F	probably benign	Het
Gm5141	T	C	13: 62,921,946 (GRCm39)	T407A	probably damaging	Het
Gm5422	T	C	10: 31,125,277 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Hp1bp3	C	A	4: 137,956,080 (GRCm39)	N50K	possibly damaging	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Ido1	A	G	8: 25,075,260 (GRCm39)	F183S	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lypd11	T	A	7: 24,423,622 (GRCm39)	N14I	possibly damaging	Het
Map1a	A	G	2: 121,133,264 (GRCm39)	D1360G	probably benign	Het
Megf10	C	T	18: 57,410,796 (GRCm39)	P702S	probably benign	Het
Met	A	G	6: 17,491,709 (GRCm39)	E157G	probably benign	Het
Mff	A	G	1: 82,728,285 (GRCm39)	D187G	possibly damaging	Het
Mlph	A	T	1: 90,870,630 (GRCm39)	I514F	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Myo15b	T	C	11: 115,755,468 (GRCm39)	V976A	probably benign	Het
Myo9a	A	G	9: 59,779,209 (GRCm39)	D1655G	probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Ndst4	A	T	3: 125,405,188 (GRCm39)	H481L	possibly damaging	Het
Nipbl	A	G	15: 8,332,964 (GRCm39)	S2220P	probably benign	Het
Nom1	C	A	5: 29,640,309 (GRCm39)	P212T	probably damaging	Het
Nsd1	A	G	13: 55,395,399 (GRCm39)	D1000G	possibly damaging	Het
Nudt9	T	C	5: 104,198,467 (GRCm39)	F44S	possibly damaging	Het
Numb	C	T	12: 83,842,566 (GRCm39)	V537I	probably damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or13a27	A	T	7: 139,925,545 (GRCm39)	M119K	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,211,899 (GRCm39)	Y95F	possibly damaging	Het
Or5h17	A	G	16: 58,820,063 (GRCm39)	N5S	probably damaging	Het
Or6c211	T	A	10: 129,506,248 (GRCm39)	T47S	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pcdh10	T	A	3: 45,334,199 (GRCm39)	V171E	probably damaging	Het
Pira13	T	A	7: 3,825,762 (GRCm39)	Y369F	probably benign	Het
Plxna4	T	C	6: 32,162,436 (GRCm39)	N1359S	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Prr5l	T	C	2: 101,602,635 (GRCm39)	T2A	possibly damaging	Het
Rbp3	T	A	14: 33,680,605 (GRCm39)	I1069N	possibly damaging	Het
Rnf144b	A	G	13: 47,373,983 (GRCm39)	Y60C	probably damaging	Het
Sbno2	A	T	10: 79,903,128 (GRCm39)	V396E	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Sigirr	A	T	7: 140,672,980 (GRCm39)	V69D	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
St6gal2	T	C	17: 55,805,290 (GRCm39)	Y396H	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr4	T	A	4: 139,128,637 (GRCm39)	I599N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Vmn2r96	T	A	17: 18,817,830 (GRCm39)	M469K	probably benign	Het
Wasf1	T	A	10: 40,807,902 (GRCm39)		probably null	Het
Wdr20rt	T	C	12: 65,272,689 (GRCm39)	S51P	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GTAGTCCACACTCGCACGACAG -3'
(R):5'- GCCCCACTGAGGCACTTTCTTAAAC -3'

Sequencing Primer
(F):5'- TCGCACGACAGAGGCTG -3'
(R):5'- acaaaatgacatagccaggaataac -3'

Posted On

2013-07-30