Mutagenetix > Incidental Mutations

Incidental Mutation 'R7345:B3galnt2'

590994

Institutional Source

Beutler Lab

Gene Symbol

B3galnt2

Ensembl Gene

ENSMUSG00000039242

Gene Name

UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2

Synonyms

D230016N13Rik, A930105D20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7345 (G1)

Quality Score

127.008

Status

Validated

Chromosome

Chromosomal Location

13954469-13999103 bp(+) (GRCm38)

Type of Mutation

splice site (4846 bp from exon)

DNA Base Change (assembly)

C to T at 13980480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099747] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000222110] [ENSMUST00000223483]

AlphaFold

Q8BG28

Predicted Effect

probably benign
Transcript: ENSMUST00000099747

SMART Domains

Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Galactosyl_T	300	460	2.9e-26	PFAM
low complexity region	481	492	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221300

Predicted Effect

probably null
Transcript: ENSMUST00000221333

Predicted Effect

probably benign
Transcript: ENSMUST00000221974

Predicted Effect

probably benign
Transcript: ENSMUST00000222110

Predicted Effect

probably benign
Transcript: ENSMUST00000223483

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks3	A	G	16: 4,955,910	M174T	possibly damaging	Het
Arhgap23	G	A	11: 97,466,478	R934Q	possibly damaging	Het
Atad5	T	C	11: 80,096,006	S640P	probably damaging	Het
B430305J03Rik	T	C	3: 61,364,118	S69G	unknown	Het
C87499	T	C	4: 88,628,179	K309E	possibly damaging	Het
Cd163	A	T	6: 124,318,938	N747I	possibly damaging	Het
Cep126	A	G	9: 8,099,816	S906P	probably damaging	Het
Cyp4f39	G	A	17: 32,486,779	G318R	probably damaging	Het
D630003M21Rik	C	T	2: 158,217,209	G257D	probably damaging	Het
Dcaf10	T	C	4: 45,342,583	L139P	probably damaging	Het
Dcc	A	G	18: 71,378,824	V840A	probably benign	Het
Dnhd1	A	T	7: 105,703,967	I2776L	probably benign	Het
Fam166b	T	C	4: 43,428,022	D145G	possibly damaging	Het
Fbxo24	G	T	5: 137,621,261	F234L	probably damaging	Het
Gm21190	T	C	5: 15,527,904		probably null	Het
Grhl3	C	T	4: 135,546,246	R565Q	probably damaging	Het
Gtf3c1	A	T	7: 125,645,670	Y1731N	probably damaging	Het
Il1a	C	A	2: 129,304,773	R133S	probably benign	Het
Ipo4	C	T	14: 55,635,531	R23Q	probably benign	Het
Klc3	G	A	7: 19,394,889	T481M	probably benign	Het
Map2k6	A	T	11: 110,492,908	I127F		Het
Mapk8	A	T	14: 33,408,111	N63K	probably damaging	Het
Med13l	T	C	5: 118,742,760	W1306R	probably damaging	Het
Megf6	C	A	4: 154,267,315	Q1162K	probably benign	Het
Myo5b	A	G	18: 74,708,024	E992G	possibly damaging	Het
Ndst4	C	T	3: 125,714,659	T291M	probably benign	Het
Nek10	T	A	14: 14,955,503	F838L	probably benign	Het
Nrm	A	G	17: 35,864,584	H194R	probably damaging	Het
Nup188	T	C	2: 30,340,601	S1384P	probably benign	Het
Olfml2a	C	A	2: 38,960,127	D618E	probably damaging	Het
Olfr466	A	C	13: 65,152,743	N173T	possibly damaging	Het
Olfr506	C	T	7: 108,613,063	T252I	probably benign	Het
Olfr937	A	G	9: 39,060,579	L29P	probably damaging	Het
Olfr938	G	A	9: 39,078,334	S137F	probably damaging	Het
P2ry1	T	C	3: 61,003,674	F78S	possibly damaging	Het
Pcdhb18	T	C	18: 37,491,923	F769L	probably benign	Het
Poc5	A	G	13: 96,396,796	E144G	probably damaging	Het
Pole	T	A	5: 110,303,903	N870K	possibly damaging	Het
Polr2b	T	C	5: 77,349,119	F1159L	possibly damaging	Het
Rubcnl	A	G	14: 75,042,353	Y392C	probably benign	Het
Sec31a	T	C	5: 100,385,270	T539A	probably damaging	Het
Serpinh1	A	C	7: 99,346,356	S340A	probably damaging	Het
Slc1a5	T	A	7: 16,796,160		probably null	Het
Soat2	A	G	15: 102,162,578	D469G	probably benign	Het
Speg	T	C	1: 75,384,835	L70P	probably damaging	Het
Spred2	T	C	11: 19,924,958		probably null	Het
Stac2	A	C	11: 98,042,613	S168A	probably damaging	Het
Stx1a	T	A	5: 135,037,188	D31E	probably benign	Het
Timeless	C	T	10: 128,249,754	T885M	probably damaging	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tsen34	T	C	7: 3,695,615	Y253H	probably damaging	Het
Unc13b	T	C	4: 43,173,966	V1598A	unknown	Het
Zfat	A	T	15: 68,105,043	Y1086N	probably damaging	Het
Zfp551	G	A	7: 12,416,595	H296Y	probably benign	Het

Other mutations in B3galnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:B3galnt2	APN	13	13987431	missense	probably benign	0.15
IGL01149:B3galnt2	APN	13	13980685	missense	probably benign	0.07
IGL01814:B3galnt2	APN	13	13987353	missense	probably damaging	1.00
IGL02383:B3galnt2	APN	13	13997033	makesense	probably null
R0106:B3galnt2	UTSW	13	13995793	missense	probably benign
R0349:B3galnt2	UTSW	13	13991474	missense	probably benign
R0676:B3galnt2	UTSW	13	13995793	missense	probably benign
R1522:B3galnt2	UTSW	13	13970769	missense	probably damaging	1.00
R1830:B3galnt2	UTSW	13	13991534	nonsense	probably null
R2035:B3galnt2	UTSW	13	13966324	missense	probably benign	0.10
R3686:B3galnt2	UTSW	13	13975635	critical splice donor site	probably null
R3954:B3galnt2	UTSW	13	13966454	missense	probably benign	0.04
R5369:B3galnt2	UTSW	13	13994425	splice site	probably null
R5435:B3galnt2	UTSW	13	13996990	missense	probably benign	0.01
R5564:B3galnt2	UTSW	13	13995229	missense	probably damaging	1.00
R5628:B3galnt2	UTSW	13	13995152	splice site	probably null
R6118:B3galnt2	UTSW	13	13991509	missense	probably damaging	0.96
R6396:B3galnt2	UTSW	13	13995748	missense	probably damaging	1.00
R6529:B3galnt2	UTSW	13	13995792	missense	probably benign	0.00
R6656:B3galnt2	UTSW	13	13975576	missense	probably benign	0.00
R7439:B3galnt2	UTSW	13	13994485	missense	probably benign	0.34
R7441:B3galnt2	UTSW	13	13994485	missense	probably benign	0.34
R7582:B3galnt2	UTSW	13	13991401	missense	probably damaging	1.00
R7849:B3galnt2	UTSW	13	13994492	missense	probably benign	0.15
R8135:B3galnt2	UTSW	13	13970869	critical splice donor site	probably null
R9216:B3galnt2	UTSW	13	13990838	missense	probably benign	0.08
R9229:B3galnt2	UTSW	13	13991522	missense	probably damaging	1.00
R9350:B3galnt2	UTSW	13	13995808	missense	probably damaging	1.00
R9422:B3galnt2	UTSW	13	13975551	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- AGCAGTTGACTCCCTAGAGC -3'
(R):5'- AGCCATACCTCTGGTAAGATGAAC -3'

Sequencing Primer
(F):5'- GTTGACTCCCTAGAGCTGTAAAAC -3'
(R):5'- CTCTGGTAAGATGAACTGTTCCACG -3'

Posted On

2019-11-01