Mutagenetix > Incidental Mutation

Incidental Mutation 'R5379:B4galt6'

425780

Institutional Source

Beutler Lab

Gene Symbol

B4galt6

Ensembl Gene

ENSMUSG00000056124

Gene Name

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

Synonyms

MMRRC Submission

042954-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R5379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20817656-20879461 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20822296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 294 (D294G)

Ref Sequence

ENSEMBL: ENSMUSP00000066515 (fasta)

Gene Model

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

AlphaFold

Q9WVK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000070080
AA Change: D294G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066515
Gene: ENSMUSG00000056124
AA Change: D294G

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

0.9741

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (58/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,096,532 (GRCm39)	L640Q	probably damaging	Het
Afap1l1	T	C	18: 61,891,721 (GRCm39)	E32G	probably damaging	Het
Atp1a1	T	A	3: 101,489,411 (GRCm39)	M734L	probably benign	Het
Baz1a	T	G	12: 54,941,133 (GRCm39)	D1539A	probably damaging	Het
Bmper	T	A	9: 23,208,520 (GRCm39)	S141T	probably benign	Het
Camkv	T	C	9: 107,822,545 (GRCm39)	V20A	probably damaging	Het
Chst8	A	G	7: 34,375,279 (GRCm39)	Y187H	probably damaging	Het
Coro1c	A	G	5: 113,983,443 (GRCm39)	Y362H	probably damaging	Het
Csmd3	C	A	15: 47,499,846 (GRCm39)	G3008*	probably null	Het
Dnah17	T	C	11: 118,008,029 (GRCm39)		probably benign	Het
Dnajb1	C	T	8: 84,335,135 (GRCm39)	R59C	possibly damaging	Het
Dpf1	A	G	7: 29,003,533 (GRCm39)	K10E	probably benign	Het
Eif5	T	C	12: 111,509,989 (GRCm39)	L311P	probably damaging	Het
Eqtn	A	G	4: 94,795,825 (GRCm39)	F251S	probably damaging	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Farp1	T	C	14: 121,494,169 (GRCm39)	V550A	possibly damaging	Het
Fat2	T	C	11: 55,194,767 (GRCm39)	T1091A	probably damaging	Het
Fbxo33	A	G	12: 59,266,246 (GRCm39)		probably benign	Het
Fndc5	A	T	4: 129,035,887 (GRCm39)	I175F	probably damaging	Het
Gtf2ird2	G	C	5: 134,246,310 (GRCm39)	R856P	probably benign	Het
Hc	A	T	2: 34,881,077 (GRCm39)	F1481I	probably damaging	Het
Helz2	T	A	2: 180,876,862 (GRCm39)	T1211S	probably benign	Het
Hmcn2	G	A	2: 31,299,023 (GRCm39)	V2790M	probably damaging	Het
Ighv1-82	T	C	12: 115,916,297 (GRCm39)	Y71C	probably damaging	Het
Itgam	A	G	7: 127,711,560 (GRCm39)	D725G	probably damaging	Het
Kif9	T	C	9: 110,350,371 (GRCm39)	V754A	probably benign	Het
Larp4b	C	A	13: 9,186,945 (GRCm39)	T91K	probably benign	Het
Mki67	T	C	7: 135,299,190 (GRCm39)	E1948G	possibly damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrgprb13	A	T	7: 47,961,496 (GRCm39)		noncoding transcript	Het
Nlrc4	A	T	17: 74,755,078 (GRCm39)	L46*	probably null	Het
Or13c7c	A	G	4: 43,836,010 (GRCm39)	I160T	probably benign	Het
Or7g21	A	T	9: 19,032,373 (GRCm39)	T38S	probably damaging	Het
Or8d1b	T	C	9: 38,887,151 (GRCm39)	Y60H	possibly damaging	Het
Orm1	A	G	4: 63,264,230 (GRCm39)		probably null	Het
Parva	A	T	7: 112,178,927 (GRCm39)	H311L	probably benign	Het
Pramel25	A	G	4: 143,521,493 (GRCm39)	I370V	probably benign	Het
Proca1	C	A	11: 78,096,092 (GRCm39)	S154R	probably damaging	Het
R3hdm2	T	C	10: 127,307,771 (GRCm39)	V344A	probably damaging	Het
Rabep1	A	T	11: 70,799,247 (GRCm39)	K293N	probably damaging	Het
Ranbp6	A	G	19: 29,789,083 (GRCm39)	V423A	probably damaging	Het
Rnf20	T	A	4: 49,652,639 (GRCm39)	Y711N	possibly damaging	Het
Sf3b1	A	T	1: 55,042,309 (GRCm39)	M498K	possibly damaging	Het
Sin3a	T	C	9: 57,018,272 (GRCm39)	M897T	probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srbd1	A	C	17: 86,308,964 (GRCm39)	I738S	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,072,991 (GRCm39)	V2106A	possibly damaging	Het
Tasor2	T	C	13: 3,638,496 (GRCm39)	R412G	probably benign	Het
Tex47	G	A	5: 7,354,843 (GRCm39)	R8Q	probably null	Het
Trpc7	A	G	13: 56,952,363 (GRCm39)	Y548H	probably damaging	Het
Vmn1r170	A	T	7: 23,306,054 (GRCm39)	H152L	possibly damaging	Het
Zfp184	A	G	13: 22,144,051 (GRCm39)	I586V	probably damaging	Het
Zfp454	T	C	11: 50,774,629 (GRCm39)	T15A	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
R0578:B4galt6	UTSW	18	20,861,013 (GRCm39)	splice site	probably benign
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
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'- TTGTAGCCGGCGTAGTGAAC -3'
(R):5'- GTTCACACTCCCCAGAATCTAGAAG -3'

Sequencing Primer
(F):5'- CGTAGTGAACTCTGCAGGATAAC -3'
(R):5'- CCCCAGAATCTAGAAGTCTATAGTG -3'

Posted On

2016-08-04