Mutagenetix > Incidental Mutation

Incidental Mutation 'R1628:B3galnt1'

172588

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

039665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1628 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69481491-69506293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69482961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 100 (T100I)

Ref Sequence

ENSEMBL: ENSMUSP00000058363 (fasta)

Gene Model

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

AlphaFold

Q920V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000061826
AA Change: T100I

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

SMART Domains

Protein: ENSMUSP00000058363
Gene: ENSMUSG00000043300
AA Change: T100I

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

Meta Mutation Damage Score

0.9190

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

99% (75/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 84,999,419 (GRCm39)	Q172*	probably null	Het
AI467606	G	A	7: 126,691,755 (GRCm39)	G110D	probably benign	Het
Arhgef15	A	C	11: 68,835,640 (GRCm39)	L805R	possibly damaging	Het
Bod1l	T	A	5: 41,974,325 (GRCm39)	M2330L	probably benign	Het
Calcr	A	T	6: 3,700,251 (GRCm39)	H280Q	possibly damaging	Het
Camk1d	T	C	2: 5,315,848 (GRCm39)	D263G	probably damaging	Het
Cd48	T	A	1: 171,532,420 (GRCm39)	I233N	probably damaging	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dapk3	C	A	10: 81,027,643 (GRCm39)	T227K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,817 (GRCm39)	M1V	probably null	Het
Etv5	C	T	16: 22,220,421 (GRCm39)		probably null	Het
Gabrr1	A	G	4: 33,152,432 (GRCm39)	Y124C	probably damaging	Het
Gba2	C	T	4: 43,570,118 (GRCm39)	R392Q	probably benign	Het
Gli3	C	G	13: 15,900,897 (GRCm39)	A1428G	probably benign	Het
Gls	G	A	1: 52,271,835 (GRCm39)	A106V	probably benign	Het
Gm21370	A	G	13: 120,488,414 (GRCm39)	V45A	possibly damaging	Het
Gpr4	A	G	7: 18,957,124 (GRCm39)	T349A	probably benign	Het
Gpr6	C	T	10: 40,947,544 (GRCm39)	V13M	possibly damaging	Het
Gvin3	A	T	7: 106,202,476 (GRCm39)	L256*	probably null	Het
Hectd3	A	G	4: 116,854,589 (GRCm39)	H345R	probably damaging	Het
Igfl3	A	T	7: 17,914,232 (GRCm39)	K135N	probably benign	Het
Il23r	A	G	6: 67,400,593 (GRCm39)	L579S	probably damaging	Het
Itsn2	A	C	12: 4,679,652 (GRCm39)	M154L	probably benign	Het
Junb	T	A	8: 85,705,039 (GRCm39)	Q7L	possibly damaging	Het
Kif21b	T	A	1: 136,098,958 (GRCm39)	H1415Q	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhdc10	T	G	6: 30,444,461 (GRCm39)	F79L	probably damaging	Het
Klk1b8	A	G	7: 43,603,565 (GRCm39)		probably null	Het
Lmbrd2	T	A	15: 9,182,593 (GRCm39)	N509K	probably damaging	Het
Mctp2	A	G	7: 71,861,337 (GRCm39)		probably null	Het
Myo3b	A	G	2: 70,117,306 (GRCm39)	N913S	probably benign	Het
N4bp2	G	A	5: 65,960,915 (GRCm39)		probably null	Het
Nt5c1a	A	G	4: 123,102,284 (GRCm39)	E70G	possibly damaging	Het
Or12k5	A	G	2: 36,894,738 (GRCm39)	V296A	probably damaging	Het
Papln	A	G	12: 83,831,180 (GRCm39)		probably benign	Het
Pcnx3	G	T	19: 5,736,093 (GRCm39)	S244R	probably damaging	Het
Pecam1	A	T	11: 106,573,786 (GRCm39)		probably null	Het
Plppr4	A	T	3: 117,121,921 (GRCm39)	L219Q	probably damaging	Het
Ppp2r5b	A	G	19: 6,280,935 (GRCm39)		probably null	Het
Ralgapb	A	G	2: 158,272,383 (GRCm39)	R146G	probably benign	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rfpl4b	T	G	10: 38,697,530 (GRCm39)	I24L	probably benign	Het
Serpinb1b	G	A	13: 33,277,637 (GRCm39)	C290Y	probably benign	Het
Skic3	A	G	13: 76,259,910 (GRCm39)	E70G	possibly damaging	Het
Slc25a17	A	G	15: 81,244,925 (GRCm39)	S3P	possibly damaging	Het
Slc4a11	A	C	2: 130,529,047 (GRCm39)		probably null	Het
Spata31e4	T	C	13: 50,856,324 (GRCm39)	L654P	probably benign	Het
Sptb	A	G	12: 76,630,622 (GRCm39)	Y2231H	probably damaging	Het
Srgap1	T	G	10: 121,706,244 (GRCm39)	M221L	probably benign	Het
Srgap3	A	G	6: 112,716,331 (GRCm39)	L599P	probably damaging	Het
Svep1	C	T	4: 58,107,561 (GRCm39)	V1177M	probably benign	Het
Tarbp1	A	G	8: 127,157,599 (GRCm39)	F1303L	possibly damaging	Het
Tbxa2r	T	C	10: 81,170,341 (GRCm39)	S276P	possibly damaging	Het
Try10	A	T	6: 41,334,390 (GRCm39)	D194V	probably damaging	Het
Ttc39c	T	C	18: 12,867,936 (GRCm39)		probably benign	Het
Ttc8	G	A	12: 98,948,780 (GRCm39)	V489M	probably benign	Het
Unc13b	G	T	4: 43,263,371 (GRCm39)	R1912L	probably damaging	Het
Unc45b	T	A	11: 82,820,206 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,048 (GRCm39)	Y292C	probably damaging	Het
Usp34	A	G	11: 23,438,725 (GRCm39)	D3429G	probably damaging	Het
Usp42	A	G	5: 143,703,122 (GRCm39)	S500P	probably damaging	Het
Vmn2r14	T	C	5: 109,367,838 (GRCm39)	M385V	probably benign	Het
Vmn2r60	G	A	7: 41,785,830 (GRCm39)	W211*	probably null	Het
Vwf	A	T	6: 125,624,701 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,918 (GRCm39)	F3018I	probably damaging	Het
Wwox	A	G	8: 115,174,973 (GRCm39)	T102A	probably benign	Het
Zfp142	A	C	1: 74,611,047 (GRCm39)	L813R	possibly damaging	Het
Zfp407	G	A	18: 84,372,658 (GRCm39)	T1670M	probably damaging	Het
Zfp93	A	G	7: 23,974,282 (GRCm39)	E89G	probably benign	Het
Zwint	C	T	10: 72,492,127 (GRCm39)	Q18*	probably null	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
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
R7501:B3galnt1	UTSW	3	69,482,632 (GRCm39)	missense	probably benign	0.17
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'- GCATTGGGGCAAAACTCCATTACC -3'
(R):5'- CCTGTAGAACCTGTGCCTTCTGAAC -3'

Sequencing Primer
(F):5'- GCCATAATGGTTTTCAAGGTCAAG -3'
(R):5'- GGATGTCACTGAGATCCCTCAAG -3'

Posted On

2014-04-24