Mutagenetix > Incidental Mutation

Incidental Mutation 'R4125:Bbox1'

315342

Institutional Source

Beutler Lab

Gene Symbol

Bbox1

Ensembl Gene

ENSMUSG00000041660

Gene Name

gamma-butyrobetaine hydroxylase 1

Synonyms

MMRRC Submission

041633-MU

Accession Numbers

Essential gene?

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

Stock #

R4125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110094401-110145158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110100525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 224 (V224A)

Ref Sequence

ENSEMBL: ENSMUSP00000046302 (fasta)

Gene Model

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

AlphaFold

Q924Y0

Predicted Effect

probably benign
Transcript: ENSMUST00000046233
AA Change: V224A

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

SMART Domains

Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: V224A

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

0.0589

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (52/53)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	T	A	3: 98,068,679 (GRCm39)	C43S	probably damaging	Het
Adamts6	A	T	13: 104,449,412 (GRCm39)	Y274F	probably damaging	Het
Ap2b1	A	G	11: 83,256,471 (GRCm39)		probably null	Het
Atm	A	C	9: 53,361,921 (GRCm39)	L2732R	probably damaging	Het
Bmpr1a	T	C	14: 34,156,690 (GRCm39)	D112G	probably benign	Het
Cdk19	A	G	10: 40,270,391 (GRCm39)	I67V	probably benign	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Chd9	A	G	8: 91,777,912 (GRCm39)	D2641G	probably damaging	Het
Chn2	G	T	6: 54,249,963 (GRCm39)	R24M	probably damaging	Het
Chuk	T	C	19: 44,088,613 (GRCm39)	I121V	probably null	Het
Ctsr	A	T	13: 61,309,659 (GRCm39)	D183E	probably benign	Het
Elp3	T	C	14: 65,797,630 (GRCm39)	E347G	possibly damaging	Het
Fhip1a	A	G	3: 85,572,690 (GRCm39)	S988P	possibly damaging	Het
Gnas	A	G	2: 174,141,958 (GRCm39)	N709S	possibly damaging	Het
Gramd2b	T	C	18: 56,618,296 (GRCm39)	S199P	probably damaging	Het
Gtf3c1	A	T	7: 125,246,622 (GRCm39)	C1562*	probably null	Het
Ifit1bl1	T	A	19: 34,572,188 (GRCm39)	I90F	probably damaging	Het
Igf2r	A	T	17: 12,921,141 (GRCm39)	H1313Q	possibly damaging	Het
Ighj4	T	C	12: 113,392,176 (GRCm39)		probably benign	Het
Kansl2	G	T	15: 98,429,636 (GRCm39)	P132Q	possibly damaging	Het
Lman1	T	C	18: 66,120,932 (GRCm39)	H430R	possibly damaging	Het
Lrrk2	T	C	15: 91,699,686 (GRCm39)	I2511T	probably benign	Het
Lvrn	C	A	18: 47,010,036 (GRCm39)	P395T	possibly damaging	Het
Myrip	C	A	9: 120,293,764 (GRCm39)	S753*	probably null	Het
Nectin4	A	G	1: 171,213,301 (GRCm39)	S408G	probably benign	Het
Or14j8	A	G	17: 38,263,681 (GRCm39)	I78T	probably benign	Het
Or52ae9	T	C	7: 103,390,207 (GRCm39)	K80R	probably benign	Het
Pcdhb13	T	C	18: 37,576,873 (GRCm39)	I417T	probably damaging	Het
Per2	T	C	1: 91,357,172 (GRCm39)	T664A	possibly damaging	Het
Plec	A	T	15: 76,056,962 (GRCm39)	L4347Q	probably damaging	Het
Poln	A	G	5: 34,261,295 (GRCm39)	S561P	probably benign	Het
Polr1a	T	C	6: 71,942,690 (GRCm39)	F1177L	probably benign	Het
Pramel24	C	T	4: 143,452,850 (GRCm39)	R94*	probably null	Het
Ptprb	A	T	10: 116,189,754 (GRCm39)	R1804S	probably benign	Het
Rhof	C	T	5: 123,257,588 (GRCm39)	V181M	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc22a12	T	C	19: 6,588,818 (GRCm39)	E281G	probably damaging	Het
Slco6b1	T	A	1: 96,915,622 (GRCm39)		noncoding transcript	Het
Stac	C	A	9: 111,433,126 (GRCm39)		probably null	Het
Tcof1	C	A	18: 60,952,673 (GRCm39)	A898S	unknown	Het
Tep1	C	T	14: 51,081,191 (GRCm39)	R1349Q	possibly damaging	Het
Thoc6	A	T	17: 23,888,319 (GRCm39)		probably benign	Het
Tmem179	A	T	12: 112,477,461 (GRCm39)	F8I	possibly damaging	Het
Tnpo3	A	G	6: 29,560,091 (GRCm39)	L684P	probably damaging	Het
Ubash3a	T	C	17: 31,456,249 (GRCm39)	Y506H	probably damaging	Het
Umps	G	A	16: 33,777,288 (GRCm39)	Q431*	probably null	Het
Unc13c	A	G	9: 73,481,289 (GRCm39)		probably null	Het
Vmn1r210	A	T	13: 23,011,779 (GRCm39)	M169K	probably benign	Het
Zfp946	C	T	17: 22,673,548 (GRCm39)	Q101*	probably null	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
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
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'- GCCAGTTGTTCCAATGACAGTG -3'
(R):5'- GCCCAACTTCAGTAGGCTTG -3'

Sequencing Primer
(F):5'- AATCCACAAAGGTCGAGG -3'
(R):5'- AGTAGGTGCCATCATCTT -3'

Posted On

2015-05-14