Mutagenetix > Incidental Mutation

Incidental Mutation 'R9094:Bco1'

691219

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

068909-MU

Accession Numbers

Essential gene?

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

Stock #

R9094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117822593-117860459 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 117859917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 540 (D540A)

Ref Sequence

ENSEMBL: ENSMUSP00000034308 (fasta)

Gene Model

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

AlphaFold

Q9JJS6

Predicted Effect

probably benign
Transcript: ENSMUST00000034308
AA Change: D540A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034308
Gene: ENSMUSG00000031845
AA Change: D540A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167370

SMART Domains

Protein: ENSMUSP00000132042
Gene: ENSMUSG00000031845

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176860

SMART Domains

Protein: ENSMUSP00000134815
Gene: ENSMUSG00000031845

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (67/70)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110021N24Rik	T	C	4: 108,637,744 (GRCm39)	V37A	unknown	Het
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abi3bp	A	G	16: 56,456,590 (GRCm39)	I1021V	probably benign	Het
Agrn	C	A	4: 156,253,264 (GRCm39)	K1848N	probably benign	Het
Anln	A	G	9: 22,249,283 (GRCm39)	V1005A	probably benign	Het
Arb2a	A	G	13: 78,311,725 (GRCm39)	K356R	possibly damaging	Het
Arid3b	A	G	9: 57,741,327 (GRCm39)	Y40H	probably damaging	Het
Blnk	A	G	19: 40,982,482 (GRCm39)	I7T	probably benign	Het
Brca2	T	G	5: 150,475,770 (GRCm39)	D2493E	probably benign	Het
Bsn	T	A	9: 107,988,052 (GRCm39)	M2567L	unknown	Het
Cacna1e	T	A	1: 154,355,064 (GRCm39)	Y693F	possibly damaging	Het
Catsperg1	G	C	7: 28,884,152 (GRCm39)	T987R	probably damaging	Het
Cpa4	G	T	6: 30,574,393 (GRCm39)	D61Y	possibly damaging	Het
Cpne1	A	C	2: 155,921,080 (GRCm39)	V70G	probably damaging	Het
Dnase1l3	A	T	14: 7,987,306 (GRCm38)	N81K	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fbxo34	C	G	14: 47,767,928 (GRCm39)	H480Q	probably benign	Het
Frmd4b	T	C	6: 97,398,559 (GRCm39)	E96G		Het
Gdpgp1	T	A	7: 79,888,216 (GRCm39)	D82E	probably benign	Het
Gjb3	GCCAGATGCGCCCA	GCCAGATGCGCCCAGATGCGCCCA	4: 127,220,458 (GRCm39)		probably null	Het
Grpel1	A	G	5: 36,626,823 (GRCm39)	N35S	probably benign	Het
Il12rb1	A	G	8: 71,273,291 (GRCm39)	T665A	possibly damaging	Het
Il16	T	C	7: 83,301,559 (GRCm39)	T886A	probably benign	Het
Insig1	T	A	5: 28,278,570 (GRCm39)	C128*	probably null	Het
Kcnk10	T	A	12: 98,484,775 (GRCm39)	E120D	probably benign	Het
Kctd1	T	C	18: 15,195,369 (GRCm39)	N418S	possibly damaging	Het
Kifbp	A	G	10: 62,395,037 (GRCm39)	V535A	probably damaging	Het
Klhl20	T	A	1: 160,933,055 (GRCm39)	H251L	probably damaging	Het
Ldlrad3	T	C	2: 101,888,326 (GRCm39)	D127G	probably damaging	Het
Lrp3	T	C	7: 34,903,182 (GRCm39)	Y388C	probably damaging	Het
Lrrc4	G	A	6: 28,830,206 (GRCm39)	R47W	possibly damaging	Het
Luzp1	A	T	4: 136,272,562 (GRCm39)	D1022V	probably damaging	Het
Mllt1	C	A	17: 57,212,737 (GRCm39)	R132L	probably damaging	Het
Ncoa1	G	T	12: 4,345,494 (GRCm39)	H618N	possibly damaging	Het
Nelfcd	T	C	2: 174,265,861 (GRCm39)	S318P	probably damaging	Het
Ngly1	A	C	14: 16,280,721 (GRCm38)	T301P	probably damaging	Het
Npy5r	G	A	8: 67,133,560 (GRCm39)	T411I	probably damaging	Het
Or55b10	T	C	7: 102,143,568 (GRCm39)	E138G	possibly damaging	Het
Or5d46	A	G	2: 88,170,248 (GRCm39)	N113S	probably benign	Het
Pcdha6	T	A	18: 37,101,593 (GRCm39)	I262N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pm20d1	C	A	1: 131,730,481 (GRCm39)	A245D	possibly damaging	Het
Rars1	T	C	11: 35,718,182 (GRCm39)		probably benign	Het
Rbms2	T	A	10: 127,987,107 (GRCm39)	I62F	probably damaging	Het
Rev3l	A	T	10: 39,700,809 (GRCm39)	T1769S	probably benign	Het
Rexo1	A	G	10: 80,378,854 (GRCm39)	Y1061H	probably damaging	Het
Rgs3	A	T	4: 62,500,240 (GRCm39)	I26F	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtkn	A	T	6: 83,128,018 (GRCm39)	N406Y	possibly damaging	Het
Rtn4r	A	T	16: 17,969,708 (GRCm39)	I379F	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Slmap	T	C	14: 26,137,355 (GRCm39)		probably benign	Het
Sorl1	A	T	9: 41,975,050 (GRCm39)	N519K	possibly damaging	Het
Srebf2	A	T	15: 82,056,975 (GRCm39)	I237F	possibly damaging	Het
Szt2	T	C	4: 118,242,651 (GRCm39)	S1479G	possibly damaging	Het
Tbc1d24	C	A	17: 24,400,274 (GRCm39)	E537*	probably null	Het
Ttf1	T	A	2: 28,957,080 (GRCm39)	I450K	probably benign	Het
Ube2e2	A	G	14: 18,893,288 (GRCm38)	S2P	unknown	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vmn2r25	C	T	6: 123,805,391 (GRCm39)	V489I	probably benign	Het
Wfdc8	C	T	2: 164,439,245 (GRCm39)	R379H	unknown	Het
Zeb2	C	T	2: 45,003,136 (GRCm39)		probably benign	Het
Zfp3	C	T	11: 70,663,241 (GRCm39)	T400I	probably benign	Het
Zfp760	T	C	17: 21,941,932 (GRCm39)	I369T	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
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
R9381:Bco1	UTSW	8	117,837,631 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TACGGATCCCCAAAAGCTGC -3'
(R):5'- AGTTCTACCAATGAAGCTAGCTAG -3'

Sequencing Primer
(F):5'- CCTGGACCTTCATGGTTTA -3'
(R):5'- AGCTTGCTTGCTTGCTTTC -3'

Posted On

2021-12-30