Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:B4galt2'

284542

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?

Probably non essential (E-score: 0.210) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

117730197-117740759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117738718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 33 (D33G)

Ref Sequence

ENSEMBL: ENSMUSP00000128771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030266] [ENSMUST00000036380] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000132073] [ENSMUST00000167443] [ENSMUST00000171548] [ENSMUST00000153358] [ENSMUST00000136596] [ENSMUST00000149868] [ENSMUST00000150204] [ENSMUST00000147845]

AlphaFold

Q9Z2Y2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030266
AA Change: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541
AA Change: D33G

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: ENSMUST00000036380

SMART Domains

Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:ATP-synt_C	50	112	1.2e-15	PFAM
Pfam:ATP-synt_C	136	198	1.8e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084325
AA Change: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541
AA Change: D33G

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: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541
AA Change: D33G

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

noncoding transcript
Transcript: ENSMUST00000124974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128263

Predicted Effect

probably benign
Transcript: ENSMUST00000132073

SMART Domains

Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	1.4e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167443
AA Change: D33G

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

SMART Domains

Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541
AA Change: D33G

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 damaging
Transcript: ENSMUST00000171548
AA Change: D33G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541
AA Change: D33G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153358
AA Change: D33G

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

SMART Domains

Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541
AA Change: D33G

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

noncoding transcript
Transcript: ENSMUST00000137016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133530

Predicted Effect

probably benign
Transcript: ENSMUST00000136596

Predicted Effect

probably benign
Transcript: ENSMUST00000149868

SMART Domains

Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	3.1e-19	PFAM
transmembrane domain	84	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150204

SMART Domains

Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	2	67	8.2e-19	PFAM
Pfam:ATP-synt_C	88	152	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147845

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,992,993 (GRCm39)	E702G	probably damaging	Het
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Agap3	A	T	5: 24,704,934 (GRCm39)	T660S	probably benign	Het
Amotl2	A	T	9: 102,601,896 (GRCm39)	E380V	probably damaging	Het
Ap4e1	A	G	2: 126,853,736 (GRCm39)	E58G	probably damaging	Het
Arap3	G	A	18: 38,120,906 (GRCm39)	A713V	probably benign	Het
Bbs7	A	T	3: 36,658,639 (GRCm39)	S212T	probably benign	Het
Ccl26	A	G	5: 135,592,224 (GRCm39)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm39)	S339C	probably benign	Het
Cd55	A	G	1: 130,380,156 (GRCm39)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,074,577 (GRCm39)		probably null	Het
Cert1	T	C	13: 96,761,300 (GRCm39)		probably null	Het
Chrnb4	T	C	9: 54,942,500 (GRCm39)	D258G	probably damaging	Het
Commd3	T	C	2: 18,678,819 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,381,180 (GRCm39)	R59L	probably damaging	Het
Edar	G	T	10: 58,446,343 (GRCm39)	T194K	probably damaging	Het
Edem3	A	G	1: 151,684,111 (GRCm39)	I733V	possibly damaging	Het
Elmod2	T	C	8: 84,048,135 (GRCm39)	Y109C	probably benign	Het
Eps15	C	T	4: 109,161,945 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,412 (GRCm39)	V1937A	probably benign	Het
Fdx2	T	A	9: 20,979,415 (GRCm39)		probably null	Het
Flg2	A	T	3: 93,127,435 (GRCm39)	I2116F	unknown	Het
Gm15091	A	G	X: 148,760,462 (GRCm39)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,791,823 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,311,947 (GRCm39)	V60M	possibly damaging	Het
Grip1	G	A	10: 119,911,214 (GRCm39)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,482,390 (GRCm39)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,669,403 (GRCm39)	A294V	probably benign	Het
Herc4	G	A	10: 63,135,023 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,274,572 (GRCm39)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,627,326 (GRCm39)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,419,536 (GRCm39)		probably null	Het
Kif18a	A	T	2: 109,127,052 (GRCm39)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,758,979 (GRCm39)	I957F	probably damaging	Het
Krt1	A	G	15: 101,757,051 (GRCm39)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,379,434 (GRCm39)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,350,257 (GRCm39)	L939*	probably null	Het
Nfe2l2	A	G	2: 75,508,869 (GRCm39)	L122P	probably damaging	Het
Nin	T	C	12: 70,103,431 (GRCm39)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,097,190 (GRCm39)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,287,927 (GRCm39)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,239,583 (GRCm39)	H201R	possibly damaging	Het
Oog4	T	C	4: 143,165,510 (GRCm39)	I212M	probably benign	Het
Or11g2	G	A	14: 50,856,015 (GRCm39)	G112D	probably damaging	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Osmr	T	C	15: 6,876,628 (GRCm39)	T99A	probably benign	Het
Pdia4	A	T	6: 47,773,741 (GRCm39)	M536K	probably benign	Het
Pdyn	A	T	2: 129,530,438 (GRCm39)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,290,837 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,229,091 (GRCm39)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,443,525 (GRCm39)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,444,712 (GRCm39)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,204,028 (GRCm39)	V72A	possibly damaging	Het
Shld1	A	T	2: 132,533,866 (GRCm39)		probably benign	Het
Slc25a27	G	A	17: 43,972,575 (GRCm39)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,704,640 (GRCm39)	D394G	possibly damaging	Het
Slco1a8	A	T	6: 141,936,158 (GRCm39)	I309N	possibly damaging	Het
Snx29	T	G	16: 11,556,216 (GRCm39)	M407R	probably damaging	Het
Syf2	A	G	4: 134,662,363 (GRCm39)		probably null	Het
Syn1	T	C	X: 20,731,376 (GRCm39)	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,905,091 (GRCm39)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,523,323 (GRCm39)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm39)		probably benign	Het
Trav6-2	G	A	14: 52,904,889 (GRCm39)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,272,813 (GRCm39)	S53P	probably benign	Het
Vmp1	T	A	11: 86,498,019 (GRCm39)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,449,485 (GRCm39)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,345,525 (GRCm39)		probably null	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
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

2015-04-16