Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02724:B4galt2'

305125

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 #

IGL02724

Quality Score

Status

Chromosome

Chromosomal Location

117730197-117740759 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 117734075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102029 (fasta)

Gene Model

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

AlphaFold

Q9Z2Y2

Predicted Effect

probably null
Transcript: ENSMUST00000030266

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541

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

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541

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 null
Transcript: ENSMUST00000106421

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541

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

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

noncoding transcript
Transcript: ENSMUST00000170733

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: 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: 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	G	2: 93,676,121 (GRCm39)	K85Q	probably damaging	Het
Acmsd	A	T	1: 127,676,822 (GRCm39)	T116S	possibly damaging	Het
Agrn	T	A	4: 156,257,264 (GRCm39)	K1189*	probably null	Het
Alk	T	C	17: 72,292,455 (GRCm39)	R508G	probably benign	Het
Arhgap23	T	A	11: 97,382,005 (GRCm39)	Y1123N	probably damaging	Het
Arl6ip5	G	T	6: 97,209,365 (GRCm39)	M133I	probably benign	Het
Axin2	G	A	11: 108,833,772 (GRCm39)	G573D	possibly damaging	Het
Baz2b	G	T	2: 59,807,718 (GRCm39)	D180E	possibly damaging	Het
Btnl6	G	T	17: 34,727,149 (GRCm39)	Y460*	probably null	Het
Cct7	A	T	6: 85,436,131 (GRCm39)	D14V	probably damaging	Het
Cd55	T	A	1: 130,377,149 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh2	C	T	18: 16,762,537 (GRCm39)	R526Q	probably benign	Het
Chi3l1	A	C	1: 134,116,981 (GRCm39)	E315A	probably damaging	Het
Cmya5	A	G	13: 93,233,163 (GRCm39)	S642P	probably benign	Het
Cpm	C	A	10: 117,465,756 (GRCm39)	T43K	probably damaging	Het
Cracd	T	C	5: 77,006,306 (GRCm39)	V889A	unknown	Het
Cyp8b1	A	T	9: 121,744,453 (GRCm39)	V293D	probably benign	Het
Dock1	T	G	7: 134,765,082 (GRCm39)	D1691E	probably benign	Het
Fasn	T	C	11: 120,700,659 (GRCm39)	D2120G	probably benign	Het
Gal3st4	T	C	5: 138,263,679 (GRCm39)	K440R	probably benign	Het
Gfpt1	A	T	6: 87,033,164 (GRCm39)	K130*	probably null	Het
Gpr26	T	C	7: 131,576,121 (GRCm39)		probably null	Het
Htr2a	A	T	14: 74,882,502 (GRCm39)	I163F	probably damaging	Het
Ift70a2	T	C	2: 75,806,682 (GRCm39)	E610G	probably benign	Het
Insrr	A	G	3: 87,716,879 (GRCm39)	D673G	probably benign	Het
Ipo8	G	T	6: 148,692,979 (GRCm39)	C636*	probably null	Het
Kirrel1	C	A	3: 86,997,780 (GRCm39)	E248*	probably null	Het
Lrp6	A	G	6: 134,461,228 (GRCm39)	V743A	probably damaging	Het
Lrrc45	C	A	11: 120,609,144 (GRCm39)	S374R	probably benign	Het
Map3k9	G	A	12: 81,771,516 (GRCm39)	P714S	probably benign	Het
Mrgprb8	T	A	7: 48,039,121 (GRCm39)	L264Q	possibly damaging	Het
Mroh4	C	A	15: 74,478,000 (GRCm39)	W902L	probably benign	Het
Nfat5	T	A	8: 108,085,367 (GRCm39)	D535E	probably damaging	Het
Nfatc3	T	C	8: 106,834,817 (GRCm39)	V713A	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nsg2	A	G	11: 32,005,011 (GRCm39)		probably null	Het
Or4c15	C	A	2: 88,759,792 (GRCm39)	R289L	probably damaging	Het
Or8s10	T	A	15: 98,335,660 (GRCm39)	F103L	probably benign	Het
Pax9	A	T	12: 56,756,604 (GRCm39)	H314L	possibly damaging	Het
Phf21a	A	T	2: 92,190,592 (GRCm39)	I584F	probably damaging	Het
Pip5k1c	A	G	10: 81,149,296 (GRCm39)	E536G	probably benign	Het
Plekhm3	A	G	1: 64,834,276 (GRCm39)	S736P	probably damaging	Het
Ppp3cb	T	A	14: 20,573,645 (GRCm39)		probably null	Het
Prdm9	A	T	17: 15,783,522 (GRCm39)	S14R	probably benign	Het
Proc	A	G	18: 32,267,925 (GRCm39)	I71T	probably damaging	Het
Prom2	T	A	2: 127,380,577 (GRCm39)		probably benign	Het
Psd	T	C	19: 46,307,984 (GRCm39)	T675A	probably benign	Het
Rnf215	G	T	11: 4,090,305 (GRCm39)	R341L	probably damaging	Het
Ryr3	A	G	2: 112,732,921 (GRCm39)		probably null	Het
Sh2d7	C	A	9: 54,448,105 (GRCm39)	T42N	probably benign	Het
Sh3glb2	C	T	2: 30,236,368 (GRCm39)	G279D	probably benign	Het
Slc25a46	A	G	18: 31,738,868 (GRCm39)		probably benign	Het
Snx17	T	C	5: 31,354,390 (GRCm39)	S167P	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptbn4	G	A	7: 27,067,104 (GRCm39)	R1937C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Srsf11	T	C	3: 157,722,068 (GRCm39)		probably benign	Het
Taar7b	A	T	10: 23,876,581 (GRCm39)	M249L	probably benign	Het
Tle6	G	A	10: 81,435,898 (GRCm39)	Q6*	probably null	Het
Twnk	G	T	19: 44,996,557 (GRCm39)	R330L	probably damaging	Het
Unc13a	C	A	8: 72,108,949 (GRCm39)		probably benign	Het
Vmn2r107	A	G	17: 20,577,006 (GRCm39)	T335A	possibly damaging	Het
Wdtc1	A	T	4: 133,024,789 (GRCm39)	S469R	possibly damaging	Het
Ypel1	A	G	16: 16,921,466 (GRCm39)	Y73H	probably benign	Het
Zfp382	A	T	7: 29,833,162 (GRCm39)	Y271F	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
IGL02224:B4galt2	APN	4	117,734,110 (GRCm39)	missense	probably benign	0.00
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