Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4434001:Bbox1'

555046

Institutional Source

Beutler Lab

Gene Symbol

Bbox1

Ensembl Gene

ENSMUSG00000041660

Gene Name

gamma-butyrobetaine hydroxylase 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

PIT4434001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110094401-110145158 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110105979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 188 (D188E)

Ref Sequence

ENSEMBL: ENSMUSP00000046302 (fasta)

Gene Model

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

AlphaFold

Q924Y0

Predicted Effect

probably benign
Transcript: ENSMUST00000046233
AA Change: D188E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046302
Gene: ENSMUSG00000041660
AA Change: D188E

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

Coding Region Coverage

1x: 93.3%
3x: 90.6%
10x: 84.3%
20x: 70.6%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	A	11: 117,696,869 (GRCm39)	D196E	probably benign	Het
Abcb5	G	A	12: 118,854,422 (GRCm39)	S831F	probably damaging	Het
Alg2	C	A	4: 47,474,076 (GRCm39)	A71S	probably benign	Het
Ankrd50	T	C	3: 38,509,412 (GRCm39)	Q62R	possibly damaging	Het
Ano1	A	G	7: 144,164,632 (GRCm39)	V664A	probably benign	Het
Bmi1	C	T	2: 18,689,042 (GRCm39)	T242M	probably benign	Het
C4bp	A	G	1: 130,584,947 (GRCm39)	F30L	probably benign	Het
Carmil3	A	G	14: 55,732,145 (GRCm39)	N214S	probably null	Het
Cep162	C	A	9: 87,075,701 (GRCm39)	K1310N	probably damaging	Het
Cfap74	G	A	4: 155,548,421 (GRCm39)	V21M	unknown	Het
Copa	A	G	1: 171,933,742 (GRCm39)	D401G	probably benign	Het
Cyp4f14	A	G	17: 33,125,104 (GRCm39)	V439A	possibly damaging	Het
Ddhd1	A	C	14: 45,848,062 (GRCm39)	N569K	possibly damaging	Het
Dennd5a	A	G	7: 109,532,831 (GRCm39)	L313P	probably damaging	Het
Eri2	A	G	7: 119,385,524 (GRCm39)	F326L	probably benign	Het
Fam135a	A	T	1: 24,068,276 (GRCm39)	H864Q	probably benign	Het
Fat3	C	T	9: 15,907,612 (GRCm39)	V2797I	probably benign	Het
Fbn2	T	C	18: 58,229,134 (GRCm39)	D692G	probably damaging	Het
Fbxw20	A	G	9: 109,052,500 (GRCm39)	S278P	probably damaging	Het
Gna12	A	T	5: 140,746,773 (GRCm39)	V224E	probably damaging	Het
Grn	C	T	11: 102,326,766 (GRCm39)	H482Y	possibly damaging	Het
Igkv7-33	A	G	6: 70,035,797 (GRCm39)	Y62H	possibly damaging	Het
Kdm4c	A	G	4: 74,189,569 (GRCm39)	T95A	probably benign	Het
Lrp3	T	C	7: 34,903,420 (GRCm39)	T309A	probably damaging	Het
Map3k2	C	A	18: 32,343,088 (GRCm39)	D279E	possibly damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Mcpt9	A	G	14: 56,266,686 (GRCm39)	S14P	probably benign	Het
Or10b1	T	C	10: 78,355,549 (GRCm39)	F36L	possibly damaging	Het
Or51a8	T	C	7: 102,549,837 (GRCm39)	F88L	probably benign	Het
Or52a33	A	C	7: 103,289,054 (GRCm39)	C98G	probably damaging	Het
Otud7b	G	A	3: 96,047,776 (GRCm39)	R45H	probably damaging	Het
Pcdhb17	A	G	18: 37,618,704 (GRCm39)	N165D	probably damaging	Het
Pogz	A	G	3: 94,779,681 (GRCm39)	T538A	probably damaging	Het
Prlr	A	G	15: 10,328,458 (GRCm39)	E311G	probably damaging	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Raet1d	A	T	10: 22,247,433 (GRCm39)	K170*	probably null	Het
Rufy2	A	T	10: 62,826,845 (GRCm39)	Q128L	possibly damaging	Het
Svopl	T	C	6: 37,991,801 (GRCm39)	N360D	possibly damaging	Het
Syt4	A	C	18: 31,573,384 (GRCm39)	L377W	probably damaging	Het
Taar7a	A	G	10: 23,869,319 (GRCm39)	F21L	probably benign	Het
Tax1bp3	T	A	11: 73,071,630 (GRCm39)	M78K	probably damaging	Het
Top2b	T	C	14: 16,423,780 (GRCm38)		probably null	Het
Trim52	A	T	14: 106,344,732 (GRCm39)	D130V	probably benign	Het
Ttc1	T	C	11: 43,635,955 (GRCm39)	Y96C	probably damaging	Het
Vmn2r49	T	C	7: 9,710,762 (GRCm39)	T657A	probably damaging	Het
Vps13d	A	T	4: 144,881,817 (GRCm39)	F1259I		Het
Zbtb18	A	T	1: 177,275,989 (GRCm39)	T441S	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
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
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'- GGACATAAGTCATATCCAGCAATGAG -3'
(R):5'- TCTTCGGTGTCTTGACAAGAG -3'

Sequencing Primer
(F):5'- GATATATAATCTAGACTCGGTCCAGG -3'
(R):5'- TGCCAGTTCAGAAAGAGTCAC -3'

Posted On

2019-06-07