Mutagenetix > Incidental Mutation

Incidental Mutation 'R7501:B3galnt1'

581458

Institutional Source

Beutler Lab

Gene Symbol

B3galnt1

Ensembl Gene

ENSMUSG00000043300

Gene Name

UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1

Synonyms

Mbrn 1, Globoside blood group, B3galt3, Brainiac 1

MMRRC Submission

045574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R7501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69481491-69506293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69482632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 210 (I210V)

Ref Sequence

ENSEMBL: ENSMUSP00000058363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061826]

AlphaFold

Q920V1

Predicted Effect

probably benign
Transcript: ENSMUST00000061826
AA Change: I210V

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: I210V

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Galactosyl_T	92	285	4.5e-68	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
PHENOTYPE: A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	G	3: 36,142,974 (GRCm39)	N503S	probably benign	Het
Adam1a	C	T	5: 121,657,011 (GRCm39)	A761T	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd44	T	C	1: 54,688,522 (GRCm39)	E238G		Het
Ap3b2	A	T	7: 81,123,194 (GRCm39)	I440K	probably damaging	Het
Atp2a1	G	A	7: 126,049,344 (GRCm39)	T566I	probably benign	Het
Bag5	T	C	12: 111,676,722 (GRCm39)	K367R	probably benign	Het
Cdc25b	T	C	2: 131,036,080 (GRCm39)	Y410H	probably damaging	Het
Cgref1	G	T	5: 31,102,800 (GRCm39)	P7Q	probably damaging	Het
Cnot6	T	C	11: 49,576,159 (GRCm39)	I136V	probably benign	Het
Comp	A	G	8: 70,832,059 (GRCm39)	D500G	possibly damaging	Het
Dnah7b	T	C	1: 46,395,714 (GRCm39)	L3872P	probably damaging	Het
Dync2h1	A	T	9: 7,175,336 (GRCm39)	L91Q	possibly damaging	Het
Fancd2	T	C	6: 113,525,364 (GRCm39)	V280A	possibly damaging	Het
Fat4	T	A	3: 39,012,597 (GRCm39)	Y2297*	probably null	Het
Fem1c	A	T	18: 46,638,868 (GRCm39)	M378K	probably damaging	Het
Gata6	A	G	18: 11,054,082 (GRCm39)	T4A	probably damaging	Het
Gatb	G	C	3: 85,544,297 (GRCm39)	V422L	probably damaging	Het
Gfpt1	T	A	6: 87,059,508 (GRCm39)	D510E	probably benign	Het
Gria4	A	T	9: 4,502,436 (GRCm39)	Y366N	probably benign	Het
Gucy1b1	T	C	3: 81,942,666 (GRCm39)	H492R	probably damaging	Het
H2bc6	A	G	13: 23,769,776 (GRCm39)	I55T	possibly damaging	Het
Hecw2	T	C	1: 53,953,031 (GRCm39)		probably null	Het
Hnrnph1	A	C	11: 50,270,383 (GRCm39)	E62D	probably benign	Het
Itga2	A	G	13: 115,012,095 (GRCm39)	V274A	probably damaging	Het
Kdm5d	T	A	Y: 941,488 (GRCm39)	W1230R	probably damaging	Het
Lctl	A	T	9: 64,038,861 (GRCm39)	M317L	probably benign	Het
Lrp6	T	C	6: 134,463,471 (GRCm39)	D570G	probably damaging	Het
Lrrc9	G	T	12: 72,496,490 (GRCm39)	M39I	probably damaging	Het
Ltbp2	A	T	12: 84,877,419 (GRCm39)	I402N	probably damaging	Het
Mst1	G	A	9: 107,959,748 (GRCm39)	G297D	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nbr1	G	A	11: 101,457,026 (GRCm39)	R163Q	probably damaging	Het
Nlrp4f	A	G	13: 65,342,143 (GRCm39)	F501L	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Oacyl	T	G	18: 65,858,369 (GRCm39)		probably null	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,326,203 (GRCm39)	R46C	possibly damaging	Het
Ppp1r26	T	A	2: 28,340,749 (GRCm39)	D126E	probably damaging	Het
Prl6a1	A	T	13: 27,500,282 (GRCm39)	R84S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,746 (GRCm39)	Q1279*	probably null	Het
Ptx4	C	T	17: 25,344,166 (GRCm39)	T472I	possibly damaging	Het
Rabgap1l	A	G	1: 160,528,358 (GRCm39)	V416A	probably damaging	Het
Rbfox2	A	T	15: 76,989,834 (GRCm39)	D231E	probably benign	Het
Reln	A	T	5: 22,432,636 (GRCm39)	F121L	possibly damaging	Het
Rfx7	G	A	9: 72,524,054 (GRCm39)	V415I	probably benign	Het
Scaf4	A	T	16: 90,026,964 (GRCm39)	M951K	unknown	Het
Sdf4	T	C	4: 156,080,977 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,331,863 (GRCm39)	T51A	probably damaging	Het
Sema3a	A	G	5: 13,607,008 (GRCm39)	N281S	probably damaging	Het
Snai2	G	A	16: 14,524,754 (GRCm39)	V87I	possibly damaging	Het
Spata31f1e	T	C	4: 42,791,357 (GRCm39)	E925G	probably damaging	Het
Synj2	T	A	17: 6,040,514 (GRCm39)	S197T	possibly damaging	Het
Syt6	A	T	3: 103,495,018 (GRCm39)	M328L	probably benign	Het
Tdrd12	A	G	7: 35,177,516 (GRCm39)	V946A	unknown	Het
Trat1	A	T	16: 48,574,657 (GRCm39)		probably null	Het
Vmn1r75	T	A	7: 11,614,997 (GRCm39)	I243K	possibly damaging	Het
Vmn2r83	G	A	10: 79,327,771 (GRCm39)	C793Y	probably damaging	Het
Wnt9a	G	A	11: 59,219,583 (GRCm39)	G203D	probably damaging	Het
Xrn2	T	C	2: 146,871,676 (GRCm39)	I366T	probably damaging	Het
Zfp280d	A	G	9: 72,269,224 (GRCm39)	D787G	possibly damaging	Het
Zfp706	T	C	15: 37,002,169 (GRCm39)	T53A	probably damaging	Het

Other mutations in B3galnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0101:B3galnt1	UTSW	3	69,483,139 (GRCm39)	missense	probably benign	0.01
R0230:B3galnt1	UTSW	3	69,482,673 (GRCm39)	missense	possibly damaging	0.80
R1580:B3galnt1	UTSW	3	69,483,040 (GRCm39)	missense	possibly damaging	0.95
R1628:B3galnt1	UTSW	3	69,482,961 (GRCm39)	missense	probably damaging	1.00
R1942:B3galnt1	UTSW	3	69,483,258 (GRCm39)	start codon destroyed	probably null	0.90
R5137:B3galnt1	UTSW	3	69,482,282 (GRCm39)	missense	probably benign	0.01
R6418:B3galnt1	UTSW	3	69,482,326 (GRCm39)	missense	probably damaging	1.00
R6468:B3galnt1	UTSW	3	69,482,866 (GRCm39)	missense	probably damaging	1.00
R6473:B3galnt1	UTSW	3	69,482,673 (GRCm39)	missense	possibly damaging	0.80
R7236:B3galnt1	UTSW	3	69,482,950 (GRCm39)	missense	probably benign	0.36
R7363:B3galnt1	UTSW	3	69,483,157 (GRCm39)	missense	probably damaging	1.00
R7819:B3galnt1	UTSW	3	69,483,108 (GRCm39)	missense	probably damaging	1.00
R7911:B3galnt1	UTSW	3	69,482,574 (GRCm39)	missense	probably damaging	1.00
R7999:B3galnt1	UTSW	3	69,482,548 (GRCm39)	missense	probably damaging	0.99
R8954:B3galnt1	UTSW	3	69,482,673 (GRCm39)	missense	possibly damaging	0.80
R8964:B3galnt1	UTSW	3	69,482,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTTGATGGGCTTCACGTG -3'
(R):5'- CTTGGAGGATGAGCACGTTC -3'

Sequencing Primer
(F):5'- GATGGGCTTCACGTGACTCATC -3'
(R):5'- AGGATGAGCACGTTCTCTATG -3'

Posted On

2019-10-17