Mutagenetix > Incidental Mutation

Incidental Mutation 'R0735:B3galt1'

68205

Institutional Source

Beutler Lab

Gene Symbol

B3galt1

Ensembl Gene

ENSMUSG00000034780

Gene Name

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1

Synonyms

6330417G03Rik

MMRRC Submission

038916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0735 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67396215-67953033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67948923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 213 (I213L)

Ref Sequence

ENSEMBL: ENSMUSP00000107965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042456] [ENSMUST00000112346] [ENSMUST00000180887]

AlphaFold

O54904

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042456
AA Change: I213L

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: I213L

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Galactosyl_T	92	283	5.4e-63	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112346
AA Change: I213L

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: I213L

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Galactosyl_T	92	283	6.4e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180887

SMART Domains

Protein: ENSMUSP00000137947
Gene: ENSMUSG00000034780

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC

Meta Mutation Damage Score

0.1261

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.7%
20x: 91.8%

Validation Efficiency

95% (73/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	A	14: 29,711,669 (GRCm39)	M405K	probably benign	Het
Adam10	G	A	9: 70,655,533 (GRCm39)	V334I	possibly damaging	Het
Adgra2	G	T	8: 27,607,346 (GRCm39)	G686C	probably damaging	Het
Akap11	A	T	14: 78,747,518 (GRCm39)	I1623N	probably damaging	Het
Astn1	A	T	1: 158,299,959 (GRCm39)	T100S	possibly damaging	Het
B4galnt4	A	G	7: 140,644,236 (GRCm39)	K101E	probably benign	Het
Brd10	A	T	19: 29,695,038 (GRCm39)	I1552K	possibly damaging	Het
Camsap2	A	G	1: 136,220,626 (GRCm39)	S324P	probably damaging	Het
Chrnb4	A	G	9: 54,951,084 (GRCm39)	S60P	probably damaging	Het
Cpne1	A	G	2: 155,920,670 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,496,500 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cxcl15	T	C	5: 90,949,153 (GRCm39)	M106T	probably benign	Het
Cyp2c23	A	T	19: 44,005,249 (GRCm39)	M140K	probably damaging	Het
Dgke	A	G	11: 88,950,901 (GRCm39)	F104S	probably benign	Het
Dhx36	T	A	3: 62,380,150 (GRCm39)	M849L	probably benign	Het
Dnah7a	C	T	1: 53,583,670 (GRCm39)	E1522K	possibly damaging	Het
Edil3	G	T	13: 89,325,297 (GRCm39)	V219F	probably damaging	Het
Egln1	A	G	8: 125,675,234 (GRCm39)	V187A	possibly damaging	Het
Fam193a	T	C	5: 34,596,722 (GRCm39)	I455T	possibly damaging	Het
Fdft1	A	T	14: 63,400,869 (GRCm39)	I88N	probably damaging	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Frs2	T	A	10: 116,910,487 (GRCm39)	S292C	probably damaging	Het
Gpr107	T	A	2: 31,062,006 (GRCm39)	F145I	probably benign	Het
Gpr153	T	A	4: 152,363,830 (GRCm39)	C83*	probably null	Het
H2-Q7	T	G	17: 35,659,162 (GRCm39)		probably null	Het
Hsp90b1	A	T	10: 86,531,612 (GRCm39)		probably benign	Het
Kcnk1	C	A	8: 126,752,028 (GRCm39)	N211K	probably damaging	Het
Klb	T	C	5: 65,537,070 (GRCm39)	V800A	probably benign	Het
Lat2	T	C	5: 134,635,637 (GRCm39)	Y59C	probably damaging	Het
Mlkl	A	T	8: 112,054,433 (GRCm39)		probably benign	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtbp	T	A	15: 55,426,338 (GRCm39)	C93*	probably null	Het
Myo7a	A	G	7: 97,730,387 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,449,180 (GRCm39)		probably benign	Het
Ogfrl1	T	C	1: 23,414,835 (GRCm39)	Q224R	possibly damaging	Het
Or10j2	A	G	1: 173,098,569 (GRCm39)	T276A	probably benign	Het
Or56b2	A	T	7: 104,338,026 (GRCm39)	H268L	probably damaging	Het
Osbpl2	A	G	2: 179,792,083 (GRCm39)		probably benign	Het
Pira13	T	C	7: 3,824,781 (GRCm39)	T533A	possibly damaging	Het
Plb1	C	T	5: 32,442,264 (GRCm39)	T252M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	T	C	6: 92,166,674 (GRCm39)	T657A	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rps6kb2	C	A	19: 4,207,882 (GRCm39)	S348I	probably benign	Het
Rsrp1	C	T	4: 134,651,568 (GRCm39)	R111W	unknown	Het
Ryr3	T	C	2: 112,563,327 (GRCm39)	T2933A	probably benign	Het
Scara5	A	G	14: 65,968,468 (GRCm39)	D247G	possibly damaging	Het
Slc7a11	C	T	3: 50,378,545 (GRCm39)	S231N	probably benign	Het
Sod2	A	T	17: 13,229,451 (GRCm39)	N91Y	probably damaging	Het
Spesp1	A	T	9: 62,179,967 (GRCm39)	S314T	probably benign	Het
St3gal1	C	A	15: 66,985,536 (GRCm39)	M39I	probably benign	Het
Stat6	A	T	10: 127,494,110 (GRCm39)	I646F	probably damaging	Het
Tdrd1	A	T	19: 56,854,410 (GRCm39)	K1119*	probably null	Het
Thbs2	A	G	17: 14,900,077 (GRCm39)	I600T	probably benign	Het
Tor1a	A	G	2: 30,853,850 (GRCm39)	V160A	probably damaging	Het
Trdmt1	T	G	2: 13,528,249 (GRCm39)	D104A	probably benign	Het
Trim58	T	C	11: 58,542,219 (GRCm39)	V393A	probably benign	Het
Trip4	C	T	9: 65,792,200 (GRCm39)		probably benign	Het
Trip6	T	C	5: 137,309,083 (GRCm39)	E341G	probably benign	Het
Ttn	T	A	2: 76,545,539 (GRCm39)	I32595F	probably damaging	Het
Ubr4	T	A	4: 139,155,339 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,596,890 (GRCm39)	V3877I	probably benign	Het
Vmn1r29	G	T	6: 58,284,717 (GRCm39)	G146C	probably damaging	Het
Vmn2r53	A	G	7: 12,315,707 (GRCm39)	V704A	probably benign	Het
Vmn2r7	C	T	3: 64,623,788 (GRCm39)	M268I	probably benign	Het
Wnt7b	G	A	15: 85,421,696 (GRCm39)	T248M	probably damaging	Het
Xab2	G	A	8: 3,663,649 (GRCm39)	P394S	possibly damaging	Het
Zfp663	A	G	2: 165,200,995 (GRCm39)	V13A	probably damaging	Het

Other mutations in B3galt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:B3galt1	APN	2	67,948,320 (GRCm39)	missense	possibly damaging	0.94
IGL00834:B3galt1	APN	2	67,949,050 (GRCm39)	missense	probably damaging	1.00
IGL02555:B3galt1	APN	2	67,948,905 (GRCm39)	missense	probably benign	0.41
IGL02678:B3galt1	APN	2	67,949,254 (GRCm39)	missense	probably benign	0.28
IGL02904:B3galt1	APN	2	67,949,089 (GRCm39)	missense	probably damaging	0.99
IGL02931:B3galt1	APN	2	67,948,728 (GRCm39)	missense	probably damaging	1.00
IGL03231:B3galt1	APN	2	67,948,947 (GRCm39)	missense	probably damaging	1.00
R0483:B3galt1	UTSW	2	67,948,932 (GRCm39)	missense	probably benign
R4946:B3galt1	UTSW	2	67,948,913 (GRCm39)	missense	possibly damaging	0.91
R5327:B3galt1	UTSW	2	67,949,112 (GRCm39)	missense	probably damaging	1.00
R5638:B3galt1	UTSW	2	67,949,095 (GRCm39)	missense	probably damaging	0.99
R6364:B3galt1	UTSW	2	67,949,016 (GRCm39)	missense	probably damaging	1.00
R6960:B3galt1	UTSW	2	67,949,033 (GRCm39)	missense	probably damaging	0.98
R7578:B3galt1	UTSW	2	67,948,896 (GRCm39)	missense	probably damaging	1.00
R8112:B3galt1	UTSW	2	67,948,702 (GRCm39)	missense	probably damaging	1.00
R8115:B3galt1	UTSW	2	67,948,320 (GRCm39)	missense	possibly damaging	0.83
R8196:B3galt1	UTSW	2	67,948,530 (GRCm39)	missense	probably benign	0.14
R8846:B3galt1	UTSW	2	67,948,717 (GRCm39)	missense	probably benign	0.03
R8924:B3galt1	UTSW	2	67,949,059 (GRCm39)	missense	probably benign	0.11
R9062:B3galt1	UTSW	2	67,948,890 (GRCm39)	missense
R9104:B3galt1	UTSW	2	67,948,406 (GRCm39)	missense	probably benign
Z1177:B3galt1	UTSW	2	67,948,334 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCTGAACCAGATGGTGGAGCAAG -3'
(R):5'- TCAAGATGAAGCAGCCTGGTGTG -3'

Sequencing Primer
(F):5'- ACATCATCGTGGAGGACTTCATTG -3'
(R):5'- CAGCCTGGTGTGGAGCG -3'

Posted On

2013-09-03