Mutagenetix > Incidental Mutation

Incidental Mutation 'R4946:B3galt1'

383385

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

042543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67396215-67953033 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67948913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 209 (N209K)

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: N209K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041343
Gene: ENSMUSG00000034780
AA Change: N209K

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: N209K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107965
Gene: ENSMUSG00000034780
AA Change: N209K

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: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,977,300 (GRCm39)	D98G	probably damaging	Het
Adgre1	G	A	17: 57,750,918 (GRCm39)	V531I	probably benign	Het
Aldoart2	A	G	12: 55,612,801 (GRCm39)	Q242R	probably benign	Het
Ank2	A	T	3: 126,735,589 (GRCm39)		probably benign	Het
Ank3	C	T	10: 69,733,947 (GRCm39)	A737V	probably damaging	Het
Ankle2	A	G	5: 110,401,704 (GRCm39)	I789V	probably benign	Het
Ankrd13c	T	C	3: 157,711,410 (GRCm39)	V510A	probably damaging	Het
Arid1b	T	A	17: 5,393,118 (GRCm39)	M2216K	probably damaging	Het
Arrdc1	A	G	2: 24,815,860 (GRCm39)	V380A	probably benign	Het
Cd300c2	A	T	11: 114,887,731 (GRCm39)	C224S	probably benign	Het
Cdk4	T	C	10: 126,900,759 (GRCm39)		probably null	Het
Cdk5rap1	T	C	2: 154,210,794 (GRCm39)	T115A	possibly damaging	Het
Clvs1	A	T	4: 9,281,831 (GRCm39)	R92*	probably null	Het
Cnga1	A	G	5: 72,762,107 (GRCm39)	V469A	probably damaging	Het
Ctns	A	G	11: 73,087,479 (GRCm39)	F16L	probably benign	Het
Dlg5	A	T	14: 24,204,429 (GRCm39)	C1299S	probably damaging	Het
Dnah3	T	A	7: 119,530,783 (GRCm39)	Y3690F	probably damaging	Het
Dnah5	A	G	15: 28,326,703 (GRCm39)	M1971V	probably damaging	Het
Dnah5	G	A	15: 28,388,050 (GRCm39)	V3170M	probably damaging	Het
Dpp8	T	C	9: 64,963,200 (GRCm39)	Y485H	probably benign	Het
Dsc2	T	C	18: 20,183,214 (GRCm39)	D68G	probably damaging	Het
Eeig2	A	G	3: 108,887,544 (GRCm39)	V240A	probably benign	Het
Elavl1	A	T	8: 4,351,752 (GRCm39)	D121E	probably benign	Het
Ermap	A	G	4: 119,040,505 (GRCm39)	V311A	probably damaging	Het
Fbxw11	C	T	11: 32,689,226 (GRCm39)	R437C	probably damaging	Het
Gas2l3	T	C	10: 89,249,634 (GRCm39)	M495V	probably benign	Het
Hacd1	C	T	2: 14,049,948 (GRCm39)		probably null	Het
Itgav	A	G	2: 83,619,327 (GRCm39)	R596G	probably benign	Het
Kars1	T	C	8: 112,728,352 (GRCm39)	H215R	possibly damaging	Het
Kif26a	G	A	12: 112,144,228 (GRCm39)	R1494H	probably damaging	Het
Klf12	G	A	14: 100,260,393 (GRCm39)	S112L	possibly damaging	Het
Krt77	T	C	15: 101,777,998 (GRCm39)	Y19C	unknown	Het
Lrrc4c	A	G	2: 97,460,834 (GRCm39)	T487A	probably benign	Het
Lrrn1	A	G	6: 107,545,851 (GRCm39)	M550V	probably benign	Het
Lsr	C	A	7: 30,657,634 (GRCm39)	R442L	probably benign	Het
Lysmd2	A	C	9: 75,542,728 (GRCm39)	T112P	probably damaging	Het
Mctp2	A	T	7: 71,909,017 (GRCm39)	S99T	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mill2	T	A	7: 18,590,608 (GRCm39)		probably null	Het
Mpp3	T	C	11: 101,895,848 (GRCm39)	N476D	probably benign	Het
Mtmr6	C	T	14: 60,517,638 (GRCm39)	P83L	possibly damaging	Het
Myh3	T	C	11: 66,984,364 (GRCm39)	I1067T	probably benign	Het
Myh9	C	A	15: 77,657,540 (GRCm39)	Q1068H	probably damaging	Het
Narf	T	A	11: 121,141,179 (GRCm39)	H304Q	possibly damaging	Het
Nfatc2ip	G	T	7: 125,995,784 (GRCm39)	P35Q	possibly damaging	Het
Npas3	C	A	12: 54,112,618 (GRCm39)	P426Q	probably damaging	Het
Or10aa3	T	G	1: 173,878,400 (GRCm39)	S154A	possibly damaging	Het
Or4e1	G	A	14: 52,700,740 (GRCm39)	T242I	probably damaging	Het
Or4f4b	T	C	2: 111,314,311 (GRCm39)	Y207H	possibly damaging	Het
Or51i1	T	A	7: 103,671,219 (GRCm39)	Q102L	probably damaging	Het
Or5p5	A	G	7: 107,414,589 (GRCm39)	H266R	possibly damaging	Het
Pcdh10	A	T	3: 45,333,917 (GRCm39)	E77V	probably damaging	Het
Pcnt	C	T	10: 76,192,019 (GRCm39)	R2764Q	probably damaging	Het
Pgbd5	T	C	8: 125,097,324 (GRCm39)	D493G	possibly damaging	Het
Piezo2	G	T	18: 63,290,333 (GRCm39)	T142N	probably benign	Het
Plcb1	A	G	2: 135,187,015 (GRCm39)	I761V	probably benign	Het
Plekhg4	T	G	8: 106,108,628 (GRCm39)	D1196E	probably null	Het
Pparg	A	G	6: 115,427,989 (GRCm39)	K159E	probably damaging	Het
Psmb1	A	T	17: 15,718,478 (GRCm39)	M16K	probably benign	Het
Ptprq	T	C	10: 107,361,595 (GRCm39)	I2139V	probably benign	Het
Ralgapb	T	A	2: 158,282,887 (GRCm39)	S239T	probably damaging	Het
Serpina11	A	G	12: 103,950,923 (GRCm39)	V266A	probably damaging	Het
Sf3a2	C	G	10: 80,639,947 (GRCm39)		probably benign	Het
Smim18	T	C	8: 34,232,587 (GRCm39)	T11A	possibly damaging	Het
Snx6	G	A	12: 54,817,528 (GRCm39)	T7I	probably damaging	Het
Srcin1	T	A	11: 97,442,768 (GRCm39)	D75V	probably damaging	Het
Srsf12	T	A	4: 33,231,174 (GRCm39)	S223T	probably damaging	Het
Taf4b	G	T	18: 14,946,599 (GRCm39)	C474F	probably damaging	Het
Tango6	T	A	8: 107,444,722 (GRCm39)	C542*	probably null	Het
Tbc1d24	A	G	17: 24,427,510 (GRCm39)	S151P	possibly damaging	Het
Tssk6	T	C	8: 70,355,714 (GRCm39)	S253P	probably benign	Het
Ttc39c	G	A	18: 12,857,999 (GRCm39)	W300*	probably null	Het
Ttc6	T	A	12: 57,689,926 (GRCm39)	W539R	probably benign	Het
Ttn	T	C	2: 76,582,770 (GRCm39)	T22708A	probably damaging	Het
Ttn	C	A	2: 76,749,053 (GRCm39)	E3999*	probably null	Het
Vill	T	G	9: 118,897,508 (GRCm39)	L261R	probably damaging	Het
Vmn1r20	T	C	6: 57,409,159 (GRCm39)	S162P	probably damaging	Het
Zfp516	T	C	18: 82,974,219 (GRCm39)	I139T	probably benign	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
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'- GTGGAGGACTTCATTGACTCC -3'
(R):5'- AGCTTTCGAAGACACAGTCCC -3'

Sequencing Primer
(F):5'- GGAGGACTTCATTGACTCCTACCAC -3'
(R):5'- TTTCGAAGACACAGTCCCACGTAC -3'

Posted On

2016-04-27