Mutagenetix > Incidental Mutation

Incidental Mutation 'R6210:Bbox1'

503386

Institutional Source

Beutler Lab

Gene Symbol

Bbox1

Ensembl Gene

ENSMUSG00000041660

Gene Name

gamma-butyrobetaine hydroxylase 1

Synonyms

MMRRC Submission

044344-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110094401-110145158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110100422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 258 (D258E)

Ref Sequence

ENSEMBL: ENSMUSP00000046302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046233]

AlphaFold

Q924Y0

Predicted Effect

probably benign
Transcript: ENSMUST00000046233
AA Change: D258E

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: D258E

Domain	Start	End	E-Value	Type
Pfam:DUF971	9	91	6.7e-15	PFAM
Pfam:TauD	109	366	6.9e-48	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (52/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,706,032 (GRCm39)	I94F	probably damaging	Het
Catsperb	A	G	12: 101,378,827 (GRCm39)		probably null	Het
Ccdc127	T	C	13: 74,505,040 (GRCm39)	V196A	probably benign	Het
Cd101	A	T	3: 100,925,959 (GRCm39)	D253E	probably damaging	Het
Ceacam15	T	C	7: 16,407,214 (GRCm39)	Y101C	probably damaging	Het
Cep135	C	T	5: 76,772,570 (GRCm39)	L652F	probably benign	Het
Col5a1	G	T	2: 27,922,633 (GRCm39)	V234L	probably benign	Het
Cxcr6	T	C	9: 123,639,073 (GRCm39)	S25P	possibly damaging	Het
Dctn4	C	T	18: 60,679,865 (GRCm39)	Q258*	probably null	Het
Fmnl2	A	T	2: 53,020,457 (GRCm39)	N1067I	possibly damaging	Het
Frrs1	A	T	3: 116,672,080 (GRCm39)	K59N	probably benign	Het
Gpr157	T	C	4: 150,186,055 (GRCm39)	Y206H	probably damaging	Het
Hephl1	A	G	9: 15,001,860 (GRCm39)	Y161H	possibly damaging	Het
Hinfp	C	T	9: 44,210,169 (GRCm39)		probably null	Het
Igf2r	A	T	17: 12,933,838 (GRCm39)	N805K	probably damaging	Het
Ilrun	A	T	17: 27,986,960 (GRCm39)	D255E	probably benign	Het
Itga3	T	C	11: 94,959,717 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,664,351 (GRCm39)		probably null	Het
Kcnip1	G	A	11: 33,595,600 (GRCm39)	T30I	possibly damaging	Het
Lig4	T	C	8: 10,021,585 (GRCm39)	T732A	probably benign	Het
Lmod3	T	A	6: 97,224,262 (GRCm39)	T520S	probably damaging	Het
Megf8	G	A	7: 25,043,145 (GRCm39)	V1356I	possibly damaging	Het
Mical3	C	T	6: 121,017,478 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,573,535 (GRCm39)	I8T	probably damaging	Het
Mug4-ps	A	T	6: 121,927,276 (GRCm39)		noncoding transcript	Het
Myo1f	T	A	17: 33,820,044 (GRCm39)	I783N	probably damaging	Het
Nr6a1	A	C	2: 38,619,509 (GRCm39)	I462S	probably damaging	Het
Or2t48	C	T	11: 58,420,090 (GRCm39)	A241T	probably damaging	Het
Or8k23	A	G	2: 86,186,702 (GRCm39)	V8A	probably benign	Het
Pah	C	A	10: 87,419,423 (GRCm39)	Q449K	probably benign	Het
Pced1a	A	G	2: 130,263,839 (GRCm39)	V271A	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Psg21	A	G	7: 18,386,270 (GRCm39)	Y239H	probably damaging	Het
Ptprt	T	C	2: 162,109,949 (GRCm39)	Y180C	probably damaging	Het
Raet1d	T	A	10: 22,246,849 (GRCm39)	I59N	probably damaging	Het
Rfx1	T	C	8: 84,819,647 (GRCm39)	L653P	probably damaging	Het
Rnase2a	A	G	14: 51,493,131 (GRCm39)	V78A	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Serbp1	T	C	6: 67,249,851 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,082,629 (GRCm39)	H649Q	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	T	A	9: 8,656,731 (GRCm39)	D719E	probably benign	Het
Ttc21b	A	T	2: 66,066,698 (GRCm39)	S318R	probably benign	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Uhmk1	T	C	1: 170,039,806 (GRCm39)	Q187R	probably damaging	Het
Ung	C	T	5: 114,269,438 (GRCm39)	A50V	probably benign	Het
Upk3bl	C	T	5: 136,088,674 (GRCm39)	Q103*	probably null	Het
Usp17le	C	A	7: 104,418,350 (GRCm39)	C264F	probably damaging	Het
Vmn2r105	T	A	17: 20,448,758 (GRCm39)	N140Y	probably damaging	Het
Vmn2r84	C	T	10: 130,222,114 (GRCm39)	C702Y	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp748	G	A	13: 67,688,923 (GRCm39)	P779L	possibly damaging	Het

Other mutations in Bbox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:Bbox1	APN	2	110,095,831 (GRCm39)	missense	probably benign	0.06
IGL02273:Bbox1	APN	2	110,105,961 (GRCm39)	nonsense	probably null
IGL02648:Bbox1	APN	2	110,135,871 (GRCm39)	missense	probably damaging	1.00
E0374:Bbox1	UTSW	2	110,098,656 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Bbox1	UTSW	2	110,105,979 (GRCm39)	missense	probably benign	0.01
R0047:Bbox1	UTSW	2	110,098,647 (GRCm39)	missense	probably damaging	1.00
R0047:Bbox1	UTSW	2	110,098,647 (GRCm39)	missense	probably damaging	1.00
R1173:Bbox1	UTSW	2	110,095,956 (GRCm39)	missense	probably damaging	0.99
R1682:Bbox1	UTSW	2	110,122,893 (GRCm39)	missense	possibly damaging	0.46
R2510:Bbox1	UTSW	2	110,135,976 (GRCm39)	start codon destroyed	probably null	1.00
R3740:Bbox1	UTSW	2	110,135,922 (GRCm39)	missense	possibly damaging	0.79
R3741:Bbox1	UTSW	2	110,135,922 (GRCm39)	missense	possibly damaging	0.79
R4125:Bbox1	UTSW	2	110,100,525 (GRCm39)	missense	probably benign
R4126:Bbox1	UTSW	2	110,100,525 (GRCm39)	missense	probably benign
R4128:Bbox1	UTSW	2	110,100,525 (GRCm39)	missense	probably benign
R4750:Bbox1	UTSW	2	110,095,866 (GRCm39)	missense	possibly damaging	0.93
R4841:Bbox1	UTSW	2	110,134,084 (GRCm39)	splice site	probably null
R5621:Bbox1	UTSW	2	110,122,868 (GRCm39)	nonsense	probably null
R6649:Bbox1	UTSW	2	110,135,914 (GRCm39)	missense	probably benign
R6677:Bbox1	UTSW	2	110,135,770 (GRCm39)	missense	probably damaging	1.00
R7078:Bbox1	UTSW	2	110,122,884 (GRCm39)	missense	probably benign
R7473:Bbox1	UTSW	2	110,095,843 (GRCm39)	missense	probably damaging	1.00
R7590:Bbox1	UTSW	2	110,098,577 (GRCm39)	missense	probably benign
R7672:Bbox1	UTSW	2	110,135,794 (GRCm39)	missense	probably damaging	0.96
R7881:Bbox1	UTSW	2	110,122,871 (GRCm39)	missense	probably benign	0.00
R8938:Bbox1	UTSW	2	110,100,529 (GRCm39)	missense	probably benign	0.06
R9711:Bbox1	UTSW	2	110,098,581 (GRCm39)	missense	probably damaging	1.00
R9801:Bbox1	UTSW	2	110,100,418 (GRCm39)	missense	probably benign	0.04
Z1177:Bbox1	UTSW	2	110,100,533 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GCTGTAGAAGCGCTAACACC -3'
(R):5'- AGTAGGTGCCATCATCTTTAACTC -3'

Sequencing Primer
(F):5'- TGTAGAAGCGCTAACACCTATAATC -3'
(R):5'- GGTGCCATCATCTTTAACTCTTTCTC -3'

Posted On

2018-02-27