Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02224:B4galt2'

285257

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 #

IGL02224

Quality Score

Status

Chromosome

Chromosomal Location

117730197-117740759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117734110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 309 (D309G)

Ref Sequence

ENSEMBL: ENSMUSP00000102029 (fasta)

Gene Model

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

AlphaFold

Q9Z2Y2

Predicted Effect

probably benign
Transcript: ENSMUST00000030266
AA Change: D309G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541
AA Change: D309G

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 benign
Transcript: ENSMUST00000084325
AA Change: D309G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541
AA Change: D309G

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: ENSMUST00000106421
AA Change: D309G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541
AA Change: D309G

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: 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: 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: 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: 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

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,329,289 (GRCm39)	T23S	probably damaging	Het
Alpk3	G	A	7: 80,726,616 (GRCm39)		probably benign	Het
Atp8b3	A	G	10: 80,361,810 (GRCm39)		probably benign	Het
Atr	C	T	9: 95,760,682 (GRCm39)	R1051C	probably damaging	Het
C130026L21Rik	A	G	5: 111,730,291 (GRCm39)		noncoding transcript	Het
Cadm3	A	G	1: 173,165,628 (GRCm39)	I344T	possibly damaging	Het
Cd101	T	C	3: 100,924,318 (GRCm39)	T370A	probably benign	Het
Col6a5	A	T	9: 105,741,534 (GRCm39)	S2462T	probably damaging	Het
Csf3r	A	T	4: 125,937,332 (GRCm39)	N739Y	probably benign	Het
Ensa	T	C	3: 95,535,990 (GRCm39)	S108P	probably benign	Het
Fancd2	T	A	6: 113,545,281 (GRCm39)		probably null	Het
Fbp1	T	A	13: 63,035,821 (GRCm39)	T13S	probably damaging	Het
Flrt2	C	A	12: 95,746,802 (GRCm39)	T380K	possibly damaging	Het
Gpatch11	T	C	17: 79,148,522 (GRCm39)		probably benign	Het
Hagh	A	G	17: 25,071,861 (GRCm39)	D29G	probably damaging	Het
Hmmr	T	C	11: 40,600,831 (GRCm39)	Q513R	unknown	Het
Hoxb8	T	C	11: 96,173,981 (GRCm39)	S65P	probably benign	Het
Il4ra	T	C	7: 125,169,271 (GRCm39)		probably benign	Het
Lbp	A	G	2: 158,148,669 (GRCm39)	N27S	probably damaging	Het
Msh4	G	A	3: 153,595,822 (GRCm39)	T76I	possibly damaging	Het
Nfat5	T	C	8: 108,071,447 (GRCm39)	V281A	probably benign	Het
Or10ag53	C	T	2: 87,082,821 (GRCm39)	S180F	probably benign	Het
Or13c25	A	T	4: 52,911,392 (GRCm39)	V134D	probably damaging	Het
Or4p20	C	T	2: 88,254,052 (GRCm39)		probably null	Het
Or5b106	T	A	19: 13,123,120 (GRCm39)	K301M	probably damaging	Het
Or5w16	T	A	2: 87,576,757 (GRCm39)	C72*	probably null	Het
Phf11b	A	T	14: 59,563,515 (GRCm39)		probably benign	Het
Pik3c2a	A	G	7: 115,962,575 (GRCm39)		probably benign	Het
Prdx1	T	A	4: 116,549,064 (GRCm39)	F66L	probably damaging	Het
Prss39	A	G	1: 34,538,459 (GRCm39)	H108R	probably damaging	Het
Spta1	C	A	1: 174,045,255 (GRCm39)		probably benign	Het
Tmem87b	A	G	2: 128,676,127 (GRCm39)	I297V	possibly damaging	Het
Vmn1r191	T	C	13: 22,363,068 (GRCm39)	R229G	probably damaging	Het
Vmn2r113	A	T	17: 23,174,960 (GRCm39)	R524*	probably null	Het
Washc2	T	A	6: 116,197,530 (GRCm39)	D254E	possibly damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp773	T	C	7: 7,135,975 (GRCm39)	H207R	probably benign	Het

Other mutations in B4galt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:B4galt2	APN	4	117,734,378 (GRCm39)	missense	probably damaging	0.99
IGL02207:B4galt2	APN	4	117,738,718 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16