Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00500:B4galt2'

6593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B4galt2

Ensembl Gene

ENSMUSG00000028541

Gene Name

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

IGL00500

Quality Score

Status

Chromosome

Chromosomal Location

117730197-117740759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117734378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 257 (L257Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030266] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000106422] [ENSMUST00000131938] [ENSMUST00000149168] [ENSMUST00000167443] [ENSMUST00000166325] [ENSMUST00000171548] [ENSMUST00000171052] [ENSMUST00000153358] [ENSMUST00000164853]

AlphaFold

Q9Z2Y2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030266
AA Change: L257Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541
AA Change: L257Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	228	4.2e-59	PFAM
Pfam:Glyco_transf_7C	232	310	2.1e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084325
AA Change: L257Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541
AA Change: L257Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106421
AA Change: L257Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541
AA Change: L257Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106422

SMART Domains

Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137016

Predicted Effect

probably benign
Transcript: ENSMUST00000149168

SMART Domains

Protein: ENSMUSP00000129359
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
low complexity region	91	116	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170733

Predicted Effect

probably benign
Transcript: ENSMUST00000167443

SMART Domains

Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	188	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166325

SMART Domains

Protein: ENSMUSP00000131493
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
coiled coil region	33	57	N/A	INTRINSIC
low complexity region	61	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171548

SMART Domains

Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171052

SMART Domains

Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
Pfam:CCDC24	21	201	3.9e-67	PFAM
low complexity region	282	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153358

SMART Domains

Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	197	9.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164853

SMART Domains

Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

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 synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased brain weight, ectopic Purkinje cells in the cerebellum, and impaired spatial learning and coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	G	7: 119,383,567 (GRCm39)	E576G	probably damaging	Het
Adnp	A	G	2: 168,025,243 (GRCm39)	V684A	possibly damaging	Het
Agl	A	G	3: 116,566,469 (GRCm39)	W965R	probably damaging	Het
AI467606	G	A	7: 126,691,505 (GRCm39)	V27I	probably benign	Het
Ankrd34b	G	A	13: 92,575,295 (GRCm39)	G176R	probably benign	Het
Atp2a1	C	T	7: 126,046,388 (GRCm39)	W72*	probably null	Het
Atp6v1a	T	C	16: 43,931,946 (GRCm39)	Q114R	probably benign	Het
Chrna10	A	T	7: 101,761,615 (GRCm39)	C325*	probably null	Het
Clip2	A	G	5: 134,529,011 (GRCm39)		probably benign	Het
Crocc2	C	T	1: 93,144,766 (GRCm39)	Q1437*	probably null	Het
Csmd1	C	T	8: 15,971,139 (GRCm39)	V3059M	probably damaging	Het
Cst5	C	A	2: 149,247,501 (GRCm39)	S72R	probably damaging	Het
Dapk1	A	G	13: 60,908,618 (GRCm39)	D1077G	probably damaging	Het
Dhx9	T	C	1: 153,341,494 (GRCm39)	T585A	probably damaging	Het
Fam210a	G	A	18: 68,408,854 (GRCm39)	T152I	possibly damaging	Het
Fbn1	T	A	2: 125,159,436 (GRCm39)	Q2214L	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
G2e3	A	G	12: 51,400,581 (GRCm39)		probably null	Het
Gcdh	C	T	8: 85,615,146 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,319 (GRCm39)		probably benign	Het
Itgb2	T	A	10: 77,400,558 (GRCm39)	W724R	probably damaging	Het
Klhl2	T	C	8: 65,202,120 (GRCm39)	T519A	probably benign	Het
Krtap12-1	G	T	10: 77,556,814 (GRCm39)	C119F	possibly damaging	Het
Nrap	T	A	19: 56,361,341 (GRCm39)	K369N	probably damaging	Het
Nrg1	T	A	8: 32,312,342 (GRCm39)		probably null	Het
Plekhh3	T	A	11: 101,056,519 (GRCm39)		probably null	Het
Ppm1b	A	G	17: 85,310,712 (GRCm39)	S289G	probably damaging	Het
Prol1	A	T	5: 88,476,550 (GRCm39)	*313C	probably null	Het
Rab40c	T	C	17: 26,104,059 (GRCm39)	E111G	probably damaging	Het
Skint11	T	A	4: 114,051,906 (GRCm39)	C85S	probably benign	Het
Slc9a2	G	A	1: 40,802,743 (GRCm39)	E598K	possibly damaging	Het
Slfn8	T	A	11: 82,904,310 (GRCm39)	D360V	possibly damaging	Het
Sspo	C	A	6: 48,474,355 (GRCm39)	C4925*	probably null	Het
Vps8	A	G	16: 21,261,084 (GRCm39)	T75A	possibly damaging	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp608	T	A	18: 55,121,405 (GRCm39)	T61S	probably benign	Het

Other mutations in B4galt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02207:B4galt2	APN	4	117,738,718 (GRCm39)	missense	probably damaging	1.00
IGL02224:B4galt2	APN	4	117,734,110 (GRCm39)	missense	probably benign	0.00
IGL02724:B4galt2	APN	4	117,734,075 (GRCm39)	critical splice donor site	probably null
IGL02949:B4galt2	APN	4	117,738,602 (GRCm39)	missense	probably benign	0.05
R1164:B4galt2	UTSW	4	117,734,141 (GRCm39)	missense	possibly damaging	0.96
R1534:B4galt2	UTSW	4	117,734,669 (GRCm39)	missense	probably damaging	1.00
R4715:B4galt2	UTSW	4	117,734,376 (GRCm39)	missense	possibly damaging	0.92
R5640:B4galt2	UTSW	4	117,731,195 (GRCm39)	missense	probably benign
R6492:B4galt2	UTSW	4	117,734,164 (GRCm39)	missense	probably damaging	0.99
R6974:B4galt2	UTSW	4	117,731,148 (GRCm39)	missense	probably damaging	0.98
R7126:B4galt2	UTSW	4	117,734,735 (GRCm39)	missense	probably damaging	1.00
R9220:B4galt2	UTSW	4	117,734,399 (GRCm39)	missense	probably damaging	1.00
R9467:B4galt2	UTSW	4	117,738,123 (GRCm39)	missense	probably damaging	1.00
Z1177:B4galt2	UTSW	4	117,738,266 (GRCm39)	missense	probably benign	0.02

Posted On

2012-04-20