Mutagenetix > Incidental Mutation

Incidental Mutation 'R6364:B3galt1'

513378

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

044514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67396215-67953033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67949016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 244 (S244T)

Ref Sequence

ENSEMBL: ENSMUSP00000107965 (fasta)

Gene Model

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

AlphaFold

O54904

Predicted Effect

probably damaging
Transcript: ENSMUST00000042456
AA Change: S244T

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

SMART Domains

Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: S244T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112346
AA Change: S244T

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

SMART Domains

Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: S244T

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,869,673 (GRCm39)	Y234C	possibly damaging	Het
Ambra1	C	A	2: 91,603,661 (GRCm39)	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,546,328 (GRCm39)		probably null	Het
Apol11b	A	G	15: 77,522,258 (GRCm39)	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,909,253 (GRCm39)		probably null	Het
Bace2	A	G	16: 97,214,633 (GRCm39)	I274V	probably benign	Het
Bfsp2	A	T	9: 103,325,827 (GRCm39)	V272D	probably damaging	Het
Blm	A	T	7: 80,144,274 (GRCm39)	C782*	probably null	Het
Cfi	G	A	3: 129,666,495 (GRCm39)	S406N	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cic	C	A	7: 24,972,248 (GRCm39)	H660N	possibly damaging	Het
Cops3	A	G	11: 59,726,230 (GRCm39)		probably benign	Het
Dlec1	G	A	9: 118,950,939 (GRCm39)	V502I	possibly damaging	Het
Dync2i1	A	T	12: 116,205,352 (GRCm39)	D412E	probably damaging	Het
Epop	A	G	11: 97,519,513 (GRCm39)	S199P	probably benign	Het
Evi5	G	T	5: 107,989,979 (GRCm39)	P80Q	probably damaging	Het
Faf1	T	C	4: 109,818,997 (GRCm39)	V623A	possibly damaging	Het
Fam83c	T	C	2: 155,676,443 (GRCm39)	D109G	probably damaging	Het
Fam83d	T	C	2: 158,625,179 (GRCm39)		probably null	Het
Flacc1	G	T	1: 58,697,531 (GRCm39)	A403D	probably damaging	Het
Foxn3	T	C	12: 99,354,952 (GRCm39)	N71D	probably benign	Het
Gm7298	A	G	6: 121,756,402 (GRCm39)	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,507,878 (GRCm39)	E396G	possibly damaging	Het
Htra2	C	A	6: 83,030,027 (GRCm39)	V311F	probably damaging	Het
Kif6	A	T	17: 49,927,651 (GRCm39)	T33S	probably benign	Het
Kmt2c	T	C	5: 25,514,634 (GRCm39)	I3070V	probably null	Het
Krtap5-2	A	T	7: 141,728,800 (GRCm39)	C293*	probably null	Het
Lrp3	T	A	7: 34,903,134 (GRCm39)	D404V	probably benign	Het
LTO1	A	G	7: 144,473,005 (GRCm39)	D105G	probably benign	Het
Mc2r	T	G	18: 68,540,607 (GRCm39)	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,774,300 (GRCm39)	M253T	possibly damaging	Het
Nfat5	A	G	8: 108,094,909 (GRCm39)	N531S	probably benign	Het
Niban3	G	A	8: 72,051,733 (GRCm39)	G23S	probably benign	Het
Npr2	T	A	4: 43,643,622 (GRCm39)	I550N	probably damaging	Het
Npy6r	T	C	18: 44,409,578 (GRCm39)	I333T	possibly damaging	Het
Nup88	C	T	11: 70,838,612 (GRCm39)	R468Q	probably benign	Het
Nup98	G	A	7: 101,825,522 (GRCm39)	T422I	probably damaging	Het
Or10aa1	T	A	1: 173,869,778 (GRCm39)	H87Q	possibly damaging	Het
Otud4	A	G	8: 80,372,970 (GRCm39)	N96S	probably damaging	Het
Paqr6	T	C	3: 88,273,265 (GRCm39)	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,138,035 (GRCm39)	T90S	probably benign	Het
Ptbp2	A	T	3: 119,534,091 (GRCm39)	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,304,029 (GRCm39)	G596V	probably damaging	Het
Rdm1	G	A	11: 101,521,068 (GRCm39)	R94H	probably benign	Het
Rergl	A	T	6: 139,477,746 (GRCm39)	F28I	probably damaging	Het
Rif1	G	T	2: 51,997,681 (GRCm39)	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,420,516 (GRCm39)	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,057,136 (GRCm39)	Q72*	probably null	Het
Sdk1	G	T	5: 141,948,464 (GRCm39)	S603I	probably benign	Het
Sdsl	T	C	5: 120,598,674 (GRCm39)	I147M	probably damaging	Het
Serpina6	T	C	12: 103,620,495 (GRCm39)	N85D	probably benign	Het
Serpinf2	A	G	11: 75,327,315 (GRCm39)	I204T	probably damaging	Het
Shank2	A	G	7: 143,964,146 (GRCm39)	S795G	probably benign	Het
Simc1	C	T	13: 54,672,413 (GRCm39)	Q254*	probably null	Het
Slc30a3	G	A	5: 31,246,083 (GRCm39)	P216S	possibly damaging	Het
Smim14	T	A	5: 65,610,639 (GRCm39)	I53F	probably benign	Het
Sp3	T	C	2: 72,801,285 (GRCm39)	T243A	probably benign	Het
Srpk2	A	G	5: 23,745,465 (GRCm39)	F164L	probably damaging	Het
Stard9	T	C	2: 120,543,910 (GRCm39)	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,130,630 (GRCm39)	T267A	possibly damaging	Het
Tgm7	T	A	2: 120,926,878 (GRCm39)	R424*	probably null	Het
Tmbim6	T	C	15: 99,304,066 (GRCm39)	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,020,722 (GRCm39)		probably benign	Het
Tomm7	A	G	5: 24,049,028 (GRCm39)	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,691,875 (GRCm39)	Y263C	probably damaging	Het
Trim34b	T	C	7: 103,985,733 (GRCm39)	F456S	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vmn2r108	A	G	17: 20,691,260 (GRCm39)	I421T	probably benign	Het
Wdr43	A	G	17: 71,964,649 (GRCm39)	E676G	probably damaging	Het
Zcchc14	G	T	8: 122,331,598 (GRCm39)		probably benign	Het
Zfp64	C	A	2: 168,754,186 (GRCm39)	G25V	probably damaging	Het
Zswim8	C	A	14: 20,763,079 (GRCm39)	P326H	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
R0735:B3galt1	UTSW	2	67,948,923 (GRCm39)	missense	possibly damaging	0.46
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
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'- ACGTCATGAAAACCGACAGTG -3'
(R):5'- TCTGGAGAGATCTGGTGGAC -3'

Sequencing Primer
(F):5'- CCGACAGTGACATTTTTGTGAAC -3'
(R):5'- CTGGTGGACAGTGATGACGC -3'

Posted On

2018-04-27