Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01414:B4galt4'

80166

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B4galt4

Ensembl Gene

ENSMUSG00000022793

Gene Name

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

Synonyms

9130402O08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

IGL01414

Quality Score

Status

Chromosome

Chromosomal Location

38562626-38589411 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38578153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 200 (E200G)

Ref Sequence

ENSEMBL: ENSMUSP00000118593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023482] [ENSMUST00000114708] [ENSMUST00000114710] [ENSMUST00000114711] [ENSMUST00000114712] [ENSMUST00000154902] [ENSMUST00000231655] [ENSMUST00000232454]

AlphaFold

Q9JJ04

Predicted Effect

probably damaging
Transcript: ENSMUST00000023482
AA Change: E200G

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

SMART Domains

Protein: ENSMUSP00000023482
Gene: ENSMUSG00000022793
AA Change: E200G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glyco_transf_7N	77	209	8.4e-63	PFAM
Pfam:Glyco_transf_7C	213	290	1e-30	PFAM
Pfam:Glyco_tranf_2_2	224	289	2.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114708

SMART Domains

Protein: ENSMUSP00000110356
Gene: ENSMUSG00000022793

Domain	Start	End	E-Value	Type
SCOP:d1j8wb_	1	71	2e-30	SMART
PDB:2FYD\|D	1	73	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114710

SMART Domains

Protein: ENSMUSP00000110358
Gene: ENSMUSG00000022793

Domain	Start	End	E-Value	Type
SCOP:d1j8wb_	1	71	2e-30	SMART
PDB:2FYD\|D	1	73	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114711

SMART Domains

Protein: ENSMUSP00000110359
Gene: ENSMUSG00000022793

Domain	Start	End	E-Value	Type
SCOP:d1j8wb_	1	71	2e-30	SMART
PDB:2FYD\|D	1	73	3e-12	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000114712
AA Change: E200G

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

SMART Domains

Protein: ENSMUSP00000110360
Gene: ENSMUSG00000022793
AA Change: E200G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glyco_transf_7N	77	211	6.2e-58	PFAM
Pfam:Glyco_transf_7C	213	290	6.9e-31	PFAM
Pfam:Glyco_tranf_2_2	224	289	3.1e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154902
AA Change: E200G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118593
Gene: ENSMUSG00000022793
AA Change: E200G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Glyco_transf_7N	77	211	5.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231655

Predicted Effect

probably benign
Transcript: ENSMUST00000232454

Coding Region Coverage

Validation Efficiency

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 appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	C	T	4: 156,279,696 (GRCm39)		probably null	Het
Arhgap45	T	A	10: 79,862,938 (GRCm39)	S705T	probably damaging	Het
Cdh12	A	T	15: 21,492,775 (GRCm39)	N265Y	probably damaging	Het
Cerk	T	A	15: 86,043,343 (GRCm39)	T153S	probably benign	Het
Ect2	A	T	3: 27,181,878 (GRCm39)		probably benign	Het
Ep300	T	A	15: 81,511,467 (GRCm39)		probably benign	Het
Gm26920	T	G	7: 29,767,503 (GRCm39)		probably benign	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Ints1	T	C	5: 139,744,253 (GRCm39)	D1503G	probably benign	Het
Lhpp	A	G	7: 132,244,249 (GRCm39)	K189E	probably damaging	Het
Myh13	A	G	11: 67,233,298 (GRCm39)	T606A	probably benign	Het
Naip1	T	C	13: 100,545,681 (GRCm39)		probably null	Het
Nckap5	G	T	1: 126,456,450 (GRCm39)	Q38K	probably damaging	Het
Nlgn3	A	G	X: 100,345,866 (GRCm39)	I93V	probably benign	Het
Nxpe2	A	G	9: 48,231,923 (GRCm39)	F345L	probably benign	Het
Pcdhb22	A	G	18: 37,652,549 (GRCm39)	N339S	probably damaging	Het
Rbbp7	T	A	X: 161,557,577 (GRCm39)	I322N	probably damaging	Het
Rigi	C	A	4: 40,222,176 (GRCm39)	V368F	probably damaging	Het
Rprd2	A	T	3: 95,672,837 (GRCm39)	F855L	probably damaging	Het
Scin	A	T	12: 40,174,698 (GRCm39)	H128Q	probably damaging	Het
Sema4g	A	G	19: 44,986,435 (GRCm39)	Y337C	probably damaging	Het
Stx6	C	T	1: 155,077,691 (GRCm39)	R233C	possibly damaging	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Trem3	G	T	17: 48,556,843 (GRCm39)	V105L	probably benign	Het
Vmn2r108	T	A	17: 20,691,942 (GRCm39)	M194L	probably benign	Het
Zfyve16	A	T	13: 92,658,704 (GRCm39)	D402E	probably benign	Het

Other mutations in B4galt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:B4galt4	APN	16	38,574,506 (GRCm39)	missense	probably damaging	1.00
R0831:B4galt4	UTSW	16	38,588,341 (GRCm39)	missense	probably benign	0.01
R2125:B4galt4	UTSW	16	38,586,300 (GRCm39)	missense	probably damaging	0.99
R3950:B4galt4	UTSW	16	38,588,384 (GRCm39)	missense	probably benign
R4334:B4galt4	UTSW	16	38,572,621 (GRCm39)	missense	probably damaging	0.99
R4773:B4galt4	UTSW	16	38,572,658 (GRCm39)	missense	probably benign	0.37
R6499:B4galt4	UTSW	16	38,578,184 (GRCm39)	missense	probably benign	0.00
R6706:B4galt4	UTSW	16	38,578,173 (GRCm39)	missense	probably benign	0.06
R7208:B4galt4	UTSW	16	38,574,302 (GRCm39)	missense	probably damaging	1.00
R7500:B4galt4	UTSW	16	38,588,376 (GRCm39)	missense	probably damaging	1.00
R7548:B4galt4	UTSW	16	38,574,428 (GRCm39)	missense	probably damaging	1.00
R7792:B4galt4	UTSW	16	38,578,172 (GRCm39)	nonsense	probably null
R8058:B4galt4	UTSW	16	38,586,383 (GRCm39)	critical splice donor site	probably null
R8202:B4galt4	UTSW	16	38,588,274 (GRCm39)	missense	probably benign
R8900:B4galt4	UTSW	16	38,572,404 (GRCm39)	utr 5 prime	probably benign
R9575:B4galt4	UTSW	16	38,583,513 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05