Mutagenetix > Incidental Mutation

Incidental Mutation 'R5621:Bbox1'

441551

Institutional Source

Beutler Lab

Gene Symbol

Bbox1

Ensembl Gene

ENSMUSG00000041660

Gene Name

gamma-butyrobetaine hydroxylase 1

Synonyms

MMRRC Submission

043279-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110094401-110145158 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 110122868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 140 (W140*)

Ref Sequence

ENSEMBL: ENSMUSP00000116663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046233] [ENSMUST00000133608]

AlphaFold

Q924Y0

Predicted Effect

probably null
Transcript: ENSMUST00000046233
AA Change: W140*

SMART Domains

Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: W140*

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

Predicted Effect

probably null
Transcript: ENSMUST00000133608
AA Change: W140*

SMART Domains

Protein: ENSMUSP00000116663
Gene: ENSMUSG00000041660
AA Change: W140*

Domain	Start	End	E-Value	Type
Pfam:DUF971	7	68	1.2e-8	PFAM

Meta Mutation Damage Score

0.9718

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (63/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	G	17: 85,003,421 (GRCm39)	L417R	probably damaging	Het
Adrm1b	G	A	3: 92,335,664 (GRCm39)	A346V	probably damaging	Het
Als2	A	G	1: 59,231,049 (GRCm39)	V854A	probably benign	Het
Ccdc28a	A	T	10: 18,092,016 (GRCm39)	N110K	probably benign	Het
Chrna6	C	T	8: 27,897,068 (GRCm39)	E270K	probably damaging	Het
Cilp	A	G	9: 65,186,073 (GRCm39)	K723E	possibly damaging	Het
Ciz1	C	A	2: 32,261,753 (GRCm39)	A455E	probably damaging	Het
Csmd3	T	G	15: 48,177,374 (GRCm39)	H388P	possibly damaging	Het
Dnajc8	A	G	4: 132,280,563 (GRCm39)		probably benign	Het
Dnase1	G	T	16: 3,856,982 (GRCm39)	C164F	probably benign	Het
Dync2h1	A	T	9: 7,120,909 (GRCm39)	I2126K	possibly damaging	Het
Epha4	G	T	1: 77,491,686 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,430,175 (GRCm39)	C201R	probably damaging	Het
Fgf8	T	C	19: 45,730,821 (GRCm39)	Y68C	probably benign	Het
Gabrb1	A	T	5: 72,266,071 (GRCm39)	I243F	probably damaging	Het
Gpam	A	C	19: 55,067,692 (GRCm39)	S484A	probably damaging	Het
Hectd2	T	A	19: 36,596,151 (GRCm39)	N745K	probably damaging	Het
Hspa13	T	C	16: 75,563,651 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,133,773 (GRCm39)	F426L	probably benign	Het
Ism1	A	G	2: 139,520,641 (GRCm39)	T18A	probably damaging	Het
Itih2	T	A	2: 10,107,616 (GRCm39)	Q650L	probably benign	Het
Jmjd4	T	C	11: 59,341,219 (GRCm39)	F50S	probably damaging	Het
Kif5b	T	C	18: 6,226,883 (GRCm39)	N125S	probably benign	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Lrfn1	A	G	7: 28,166,261 (GRCm39)	I552V	probably damaging	Het
Mcph1	A	G	8: 18,682,186 (GRCm39)	E441G	probably damaging	Het
Mdn1	T	A	4: 32,716,371 (GRCm39)	H2144Q	possibly damaging	Het
Mms19	A	G	19: 41,954,752 (GRCm39)	S56P	probably benign	Het
Mrgprb3	A	G	7: 48,293,116 (GRCm39)	I145T	probably benign	Het
Myh11	G	A	16: 14,062,719 (GRCm39)	T287I	probably damaging	Het
Npas2	A	G	1: 39,398,794 (GRCm39)	T730A	probably benign	Het
Or4c108	T	C	2: 88,803,810 (GRCm39)	I142V	probably benign	Het
Or4c15b	G	A	2: 89,112,697 (GRCm39)	P281L	probably damaging	Het
Pcdhgb1	A	G	18: 37,815,222 (GRCm39)	E571G	possibly damaging	Het
Pcx	T	A	19: 4,669,195 (GRCm39)	V731E	possibly damaging	Het
Pgm2	T	A	5: 64,269,381 (GRCm39)	Y489*	probably null	Het
Rrp12	T	C	19: 41,868,856 (GRCm39)	T541A	probably benign	Het
Ryr3	C	T	2: 112,731,329 (GRCm39)	W660*	probably null	Het
Sertad2	T	A	11: 20,598,061 (GRCm39)	F86I	possibly damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc22a22	G	T	15: 57,122,547 (GRCm39)	F143L	probably benign	Het
Slc22a28	C	T	19: 8,048,376 (GRCm39)	V424I	probably benign	Het
Slc7a11	T	G	3: 50,393,324 (GRCm39)	K106N	probably damaging	Het
Smgc	A	T	15: 91,728,623 (GRCm39)	D121V	probably damaging	Het
Sphk1	C	T	11: 116,427,192 (GRCm39)		probably benign	Het
Spock3	A	T	8: 63,597,040 (GRCm39)	T118S	probably benign	Het
Stk17b	G	T	1: 53,810,943 (GRCm39)	S54*	probably null	Het
Sycp2	A	G	2: 178,023,711 (GRCm39)	I435T	probably benign	Het
Tm2d3	G	T	7: 65,351,366 (GRCm39)	D207Y	probably damaging	Het
Top2b	A	T	14: 16,387,280 (GRCm38)	N123Y	probably damaging	Het
Unc80	A	G	1: 66,677,202 (GRCm39)	T2044A	possibly damaging	Het
Usp6nl	A	G	2: 6,445,243 (GRCm39)	S407G	probably benign	Het
Vmn1r195	G	A	13: 22,462,559 (GRCm39)	V10I	probably benign	Het
Zfp292	C	T	4: 34,811,703 (GRCm39)	R447H	probably 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
R6210:Bbox1	UTSW	2	110,100,422 (GRCm39)	missense	probably benign	0.38
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'- TCACTCCCTCTTGGAAATAGATCC -3'
(R):5'- GCCAATATCCCTGATATGAGCAAC -3'

Sequencing Primer
(F):5'- CCAACTGTATTTGTCATGGCAG -3'
(R):5'- GACAAACTCCAATGAACTGTGTTTTC -3'

Posted On

2016-11-08