Mutagenetix > Incidental Mutation

Incidental Mutation 'R6649:Bbox1'

527668

Institutional Source

Beutler Lab

Gene Symbol

Bbox1

Ensembl Gene

ENSMUSG00000041660

Gene Name

gamma-butyrobetaine hydroxylase 1

Synonyms

MMRRC Submission

044770-MU

Accession Numbers

Essential gene?

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

Stock #

R6649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110094401-110145158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110135914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 22 (H22N)

Ref Sequence

ENSEMBL: ENSMUSP00000116663 (fasta)

Gene Model

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

AlphaFold

Q924Y0

Predicted Effect

probably benign
Transcript: ENSMUST00000046233
AA Change: H22N

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

SMART Domains

Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: H22N

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 benign
Transcript: ENSMUST00000133608
AA Change: H22N

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

SMART Domains

Protein: ENSMUSP00000116663
Gene: ENSMUSG00000041660
AA Change: H22N

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,800,941 (GRCm39)	H627Q	probably benign	Het
Abra	G	A	15: 41,732,629 (GRCm39)	L146F	probably benign	Het
Adamts7	T	C	9: 90,073,990 (GRCm39)	C857R	probably damaging	Het
Ankhd1	A	T	18: 36,733,836 (GRCm39)		probably null	Het
Asb15	A	G	6: 24,562,632 (GRCm39)	N198S	probably benign	Het
Asb16	A	T	11: 102,159,863 (GRCm39)	Q72L	possibly damaging	Het
Atosa	T	G	9: 74,917,432 (GRCm39)	L677R	probably damaging	Het
Bcdin3d	T	C	15: 99,368,696 (GRCm39)	T168A	probably damaging	Het
Bmp1	A	T	14: 70,728,058 (GRCm39)	W624R	probably damaging	Het
Cdh18	A	T	15: 23,436,620 (GRCm39)	Y492F	possibly damaging	Het
Cep290	A	C	10: 100,354,393 (GRCm39)	D848A	probably benign	Het
Cip2a	A	T	16: 48,837,829 (GRCm39)	Q843L	probably damaging	Het
Cmya5	G	C	13: 93,234,533 (GRCm39)	S185C	possibly damaging	Het
Cops9	C	T	1: 92,568,136 (GRCm39)		probably benign	Het
Cutal	C	T	2: 34,775,933 (GRCm39)	T88I	probably benign	Het
Dlg4	G	T	11: 69,914,779 (GRCm39)		probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Erp44	T	C	4: 48,205,130 (GRCm39)	I288V	probably null	Het
Fat3	T	C	9: 16,288,038 (GRCm39)	D495G	probably damaging	Het
Fsip2	T	C	2: 82,798,161 (GRCm39)	V485A	possibly damaging	Het
Gm14496	A	T	2: 181,639,269 (GRCm39)	H453L	possibly damaging	Het
Gm17027	T	C	14: 41,981,236 (GRCm39)	T207A	unknown	Het
Gm6902	T	G	7: 22,973,159 (GRCm39)	T123P	possibly damaging	Het
Gpat2	T	G	2: 127,274,355 (GRCm39)	W366G	possibly damaging	Het
Heatr6	A	T	11: 83,650,191 (GRCm39)	T216S	probably benign	Het
Hsd17b14	T	C	7: 45,205,500 (GRCm39)	V11A	probably damaging	Het
Jak2	T	A	19: 29,266,110 (GRCm39)	I517N	probably benign	Het
Kmt5b	G	A	19: 3,857,295 (GRCm39)	G351R	probably damaging	Het
Mau2	G	T	8: 70,484,166 (GRCm39)	Q141K	possibly damaging	Het
Mfsd13a	T	C	19: 46,356,305 (GRCm39)	F137L	probably damaging	Het
Mfsd13a	A	G	19: 46,360,704 (GRCm39)	H394R	probably benign	Het
Mfsd14b	A	T	13: 65,214,599 (GRCm39)	I451N	probably damaging	Het
Milr1	C	T	11: 106,648,537 (GRCm39)	H143Y	probably benign	Het
Mon2	T	G	10: 122,874,385 (GRCm39)	K321T	possibly damaging	Het
Nlrp9c	T	A	7: 26,070,747 (GRCm39)	N945Y	probably damaging	Het
Nwd2	A	G	5: 63,882,527 (GRCm39)	R60G	possibly damaging	Het
Or2z2	A	T	11: 58,346,394 (GRCm39)	I127N	probably damaging	Het
Or52b2	T	C	7: 104,986,914 (GRCm39)	H3R	probably benign	Het
Or8g20	A	G	9: 39,396,048 (GRCm39)	V164A	probably benign	Het
Papola	A	T	12: 105,778,566 (GRCm39)	I315L	possibly damaging	Het
Phf3	A	T	1: 30,844,104 (GRCm39)	S1618R	possibly damaging	Het
Phyhipl	A	G	10: 70,404,843 (GRCm39)	F77L	probably damaging	Het
Ppp3cb	A	G	14: 20,581,094 (GRCm39)	L110P	probably damaging	Het
Prss53	T	G	7: 127,485,747 (GRCm39)	E531A	probably benign	Het
Raf1	A	T	6: 115,608,302 (GRCm39)	H236Q	probably benign	Het
Ryr2	A	G	13: 11,610,529 (GRCm39)	V4099A	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2b	T	C	11: 32,365,978 (GRCm39)		probably null	Het
Slco6c1	C	T	1: 97,053,436 (GRCm39)	S155N	probably benign	Het
Speer4f2	A	G	5: 17,580,767 (GRCm39)	T115A	probably benign	Het
Spry1	T	C	3: 37,696,871 (GRCm39)	I38T	probably damaging	Het
Tagap	T	C	17: 8,152,546 (GRCm39)	V577A	probably benign	Het
Ubr4	C	A	4: 139,200,935 (GRCm39)	H4706Q	possibly damaging	Het
Vmn2r112	T	A	17: 22,820,160 (GRCm39)	L11Q	probably null	Het
Zfp60	T	C	7: 27,448,151 (GRCm39)	F273S	probably benign	Het
Zfp938	A	T	10: 82,061,232 (GRCm39)	Y463N	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
R5621:Bbox1	UTSW	2	110,122,868 (GRCm39)	nonsense	probably null
R6210:Bbox1	UTSW	2	110,100,422 (GRCm39)	missense	probably benign	0.38
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'- CTTGATCTAACTCAACAGAGAAGGG -3'
(R):5'- TGTAGGCTCACACTGCTGAG -3'

Sequencing Primer
(F):5'- GGAAGAGCATTTAGACGTAATTACC -3'
(R):5'- CCAGAGTCCACTTGCAGTATTGTAG -3'

Posted On

2018-07-23