Mutagenetix > Incidental Mutation

Incidental Mutation 'R0578:B4galt6'

56335

Institutional Source

Beutler Lab

Gene Symbol

B4galt6

Ensembl Gene

ENSMUSG00000056124

Gene Name

UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6

Synonyms

MMRRC Submission

038768-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R0578 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

20817656-20879461 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 20861013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070080]

AlphaFold

Q9WVK5

Predicted Effect

probably benign
Transcript: ENSMUST00000070080

SMART Domains

Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	108	243	3.3e-56	PFAM
Pfam:Glyco_transf_7C	247	325	2e-28	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype with reduced lactosylceramide synthase in MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,943,556 (GRCm39)	Y56C	possibly damaging	Het
Abca5	A	T	11: 110,167,315 (GRCm39)	C1500*	probably null	Het
Acr	C	G	15: 89,453,678 (GRCm39)	H72Q	probably damaging	Het
Adam18	T	C	8: 25,131,863 (GRCm39)	D416G	possibly damaging	Het
Afap1l2	T	A	19: 56,904,214 (GRCm39)	Y691F	probably benign	Het
Akna	A	G	4: 63,289,147 (GRCm39)	S1259P	probably benign	Het
Atad2	G	A	15: 57,968,964 (GRCm39)	T525I	probably damaging	Het
Atp2a1	T	G	7: 126,049,315 (GRCm39)	M576L	probably benign	Het
Best3	A	G	10: 116,844,904 (GRCm39)	D353G	probably benign	Het
Btg3	A	T	16: 78,161,834 (GRCm39)	D125E	probably benign	Het
Cabin1	A	T	10: 75,549,444 (GRCm39)	D1320E	probably damaging	Het
Cachd1	A	C	4: 100,852,039 (GRCm39)		probably benign	Het
Cad	T	C	5: 31,216,120 (GRCm39)	V151A	probably benign	Het
Capns1	A	T	7: 29,893,453 (GRCm39)		probably benign	Het
Catsperg2	T	A	7: 29,404,116 (GRCm39)	T860S	possibly damaging	Het
Ccdc61	T	C	7: 18,637,400 (GRCm39)	T76A	probably benign	Het
Cdipt	T	A	7: 126,578,702 (GRCm39)		probably null	Het
Cyp2d12	G	A	15: 82,440,584 (GRCm39)		probably benign	Het
Dennd4c	C	A	4: 86,730,659 (GRCm39)	P852Q	probably damaging	Het
Dsg2	G	A	18: 20,727,291 (GRCm39)	V613I	probably benign	Het
Dusp16	G	C	6: 134,695,284 (GRCm39)	L516V	probably damaging	Het
Eif2ak4	T	G	2: 118,305,472 (GRCm39)		probably benign	Het
Faf2	C	T	13: 54,769,658 (GRCm39)	A2V	possibly damaging	Het
Gas2l3	A	G	10: 89,252,937 (GRCm39)	I236T	probably damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Got1	G	T	19: 43,504,222 (GRCm39)	S66R	probably benign	Het
Gpr149	T	A	3: 62,510,110 (GRCm39)	H335L	possibly damaging	Het
Hadhb	A	G	5: 30,383,804 (GRCm39)	I342M	probably benign	Het
Helz	T	A	11: 107,577,226 (GRCm39)	V1859D	unknown	Het
Htr1a	T	A	13: 105,581,595 (GRCm39)	N278K	probably damaging	Het
Inppl1	T	C	7: 101,480,795 (GRCm39)	E355G	probably damaging	Het
Isl2	A	G	9: 55,452,319 (GRCm39)	Y297C	probably damaging	Het
Kat7	T	C	11: 95,182,350 (GRCm39)	H250R	probably benign	Het
Klhl30	A	T	1: 91,282,074 (GRCm39)	D225V	probably benign	Het
Mtch2	T	C	2: 90,683,174 (GRCm39)		probably benign	Het
Muc4	C	A	16: 32,755,690 (GRCm38)		probably benign	Het
Ncoa7	A	C	10: 30,577,913 (GRCm39)		probably null	Het
Nuf2	T	A	1: 169,338,118 (GRCm39)		probably benign	Het
Or5ak24	T	C	2: 85,261,017 (GRCm39)	D52G	probably benign	Het
Or6c8	A	G	10: 128,915,062 (GRCm39)	Y257H	probably damaging	Het
Pced1a	T	A	2: 130,261,763 (GRCm39)	S297C	probably damaging	Het
Pi15	A	T	1: 17,673,073 (GRCm39)	K91*	probably null	Het
Pla2g4e	C	T	2: 120,075,162 (GRCm39)		probably benign	Het
Plce1	A	T	19: 38,766,383 (GRCm39)	H2136L	probably damaging	Het
Plec	A	G	15: 76,061,084 (GRCm39)	L2973P	probably damaging	Het
Poln	A	G	5: 34,171,682 (GRCm39)	I695T	probably damaging	Het
Pramel32	T	A	4: 88,552,376 (GRCm39)	I2F	probably benign	Het
R3hdm1	C	T	1: 128,159,174 (GRCm39)	Q950*	probably null	Het
Rxra	C	T	2: 27,649,582 (GRCm39)	A429V	probably damaging	Het
Scnn1a	G	A	6: 125,299,207 (GRCm39)	G96S	probably damaging	Het
Senp5	T	A	16: 31,808,163 (GRCm39)	T337S	possibly damaging	Het
Smg9	A	G	7: 24,114,468 (GRCm39)	D269G	probably damaging	Het
Srsf11	C	T	3: 157,717,704 (GRCm39)		probably benign	Het
Tmtc1	C	T	6: 148,256,716 (GRCm39)		probably benign	Het
Vmn2r19	T	C	6: 123,312,931 (GRCm39)	V667A	probably damaging	Het

Other mutations in B4galt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:B4galt6	APN	18	20,822,070 (GRCm39)	missense	probably damaging	0.98
IGL02260:B4galt6	APN	18	20,833,804 (GRCm39)	missense	probably benign	0.00
H8786:B4galt6	UTSW	18	20,822,001 (GRCm39)	missense	probably benign	0.10
PIT4515001:B4galt6	UTSW	18	20,821,524 (GRCm39)	missense	probably benign	0.01
R1259:B4galt6	UTSW	18	20,839,559 (GRCm39)	missense	possibly damaging	0.82
R1471:B4galt6	UTSW	18	20,878,410 (GRCm39)	missense	possibly damaging	0.50
R1487:B4galt6	UTSW	18	20,839,571 (GRCm39)	missense	possibly damaging	0.81
R1689:B4galt6	UTSW	18	20,839,553 (GRCm39)	missense	probably benign	0.05
R4541:B4galt6	UTSW	18	20,878,496 (GRCm39)	missense	probably benign	0.04
R4845:B4galt6	UTSW	18	20,821,517 (GRCm39)	missense	probably benign	0.20
R4968:B4galt6	UTSW	18	20,861,026 (GRCm39)	missense	possibly damaging	0.81
R5379:B4galt6	UTSW	18	20,822,296 (GRCm39)	missense	probably damaging	1.00
R5503:B4galt6	UTSW	18	20,878,409 (GRCm39)	critical splice donor site	probably null
R6755:B4galt6	UTSW	18	20,822,386 (GRCm39)	missense	probably benign	0.01
R7296:B4galt6	UTSW	18	20,861,099 (GRCm39)	missense	probably damaging	0.99
R8726:B4galt6	UTSW	18	20,821,450 (GRCm39)	missense	possibly damaging	0.86
R8884:B4galt6	UTSW	18	20,822,072 (GRCm39)	missense	probably benign
R8929:B4galt6	UTSW	18	20,821,422 (GRCm39)	missense	possibly damaging	0.62
R9282:B4galt6	UTSW	18	20,825,509 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- GGATGCCTATGGAACAACAGGAACC -3'
(R):5'- GCTCGGGACCCTCCACATTTATTG -3'

Sequencing Primer
(F):5'- CCCTTAGAAGATGCCCACTTAG -3'
(R):5'- agcacttttacccactgacc -3'

Posted On

2013-07-11