Mutagenetix > Incidental Mutation

Incidental Mutation 'R9350:B3galnt2'

708033

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14129059-14173688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14170393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 248 (S248P)

Ref Sequence

ENSEMBL: ENSMUSP00000152239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000099747] [ENSMUST00000159893] [ENSMUST00000162326] [ENSMUST00000220681] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000222110] [ENSMUST00000223483]

AlphaFold

Q8BG28

Predicted Effect

probably benign
Transcript: ENSMUST00000039894

SMART Domains

Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233

Domain	Start	End	E-Value	Type
CAP_GLY	10	76	5.23e-32	SMART
SCOP:d1fqva2	117	345	4e-20	SMART
low complexity region	347	360	N/A	INTRINSIC
Pfam:Ubiquitin_2	442	523	1.1e-7	PFAM

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: ENSMUST00000159893

SMART Domains

Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233

Domain	Start	End	E-Value	Type
SCOP:d1lpla_	9	35	3e-5	SMART
Blast:CAP_GLY	10	34	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162326

SMART Domains

Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233

Domain	Start	End	E-Value	Type
CAP_GLY	10	76	5.23e-32	SMART
SCOP:d1fqva2	117	345	4e-21	SMART
low complexity region	347	360	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000220681
AA Change: S248P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221300

Predicted Effect

probably benign
Transcript: ENSMUST00000221333

Predicted Effect

probably benign
Transcript: ENSMUST00000221974

Predicted Effect

probably benign
Transcript: ENSMUST00000222110

Predicted Effect

probably benign
Transcript: ENSMUST00000222420

Predicted Effect

probably benign
Transcript: ENSMUST00000223483

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.7%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	A	8: 44,022,669 (GRCm39)	M274L	probably benign	Het
Adarb1	T	A	10: 77,158,267 (GRCm39)	N60I	possibly damaging	Het
Adgrv1	T	A	13: 81,654,274 (GRCm39)	N2919I	probably damaging	Het
Adora3	C	T	3: 105,814,613 (GRCm39)	T121M	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,260 (GRCm39)	N423Y	probably damaging	Het
Arhgap19	A	T	19: 41,761,566 (GRCm39)	F466Y	probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atxn7l1	C	T	12: 33,417,315 (GRCm39)	T492I	probably benign	Het
Casp2	T	C	6: 42,246,332 (GRCm39)	V230A	probably benign	Het
Creb3l1	C	T	2: 91,822,231 (GRCm39)		probably null	Het
Ctnnbl1	G	A	2: 157,651,445 (GRCm39)	G240E	possibly damaging	Het
Dennd2c	T	C	3: 103,039,308 (GRCm39)	L152P	possibly damaging	Het
Dhx16	T	A	17: 36,200,203 (GRCm39)	F874Y	probably damaging	Het
Dnah14	A	T	1: 181,562,369 (GRCm39)	Y2643F	possibly damaging	Het
Dnah2	C	A	11: 69,384,073 (GRCm39)	V1048L	probably benign	Het
Dnah7a	T	C	1: 53,436,307 (GRCm39)	I4012V	probably benign	Het
Duox2	G	A	2: 122,115,729 (GRCm39)	R1002*	probably null	Het
Ears2	T	A	7: 121,643,786 (GRCm39)	K391*	probably null	Het
Eif4e	T	C	3: 138,259,470 (GRCm39)	V176A	probably benign	Het
Erbb4	T	A	1: 68,329,638 (GRCm39)	I626L	probably benign	Het
Fam171a1	C	T	2: 3,226,037 (GRCm39)	T390I	probably benign	Het
Fam187b	A	G	7: 30,677,037 (GRCm39)	E182G	possibly damaging	Het
Fam204a	A	G	19: 60,209,685 (GRCm39)	V15A	probably benign	Het
Fscn3	C	T	6: 28,430,432 (GRCm39)	R201*	probably null	Het
Fzd6	A	G	15: 38,895,043 (GRCm39)	D403G	probably damaging	Het
Gars1	G	A	6: 55,029,249 (GRCm39)	A210T	probably null	Het
Gmcl1	A	T	6: 86,677,569 (GRCm39)	I428N	probably damaging	Het
Gmip	T	A	8: 70,263,832 (GRCm39)	I92N	probably damaging	Het
Il17rc	G	A	6: 113,456,048 (GRCm39)	V298I	probably damaging	Het
Kifap3	A	G	1: 163,610,630 (GRCm39)	I37V	probably benign	Het
Marf1	T	C	16: 13,963,789 (GRCm39)	K505E	probably damaging	Het
Masp2	A	T	4: 148,692,396 (GRCm39)		probably null	Het
Mmp15	G	A	8: 96,093,002 (GRCm39)	R127H	probably damaging	Het
Nrdc	A	G	4: 108,889,658 (GRCm39)	T402A	possibly damaging	Het
Or10d1c	A	T	9: 38,894,081 (GRCm39)	N86K	probably benign	Het
Or4k6	T	A	14: 50,475,407 (GRCm39)	I312L	probably benign	Het
Papln	A	T	12: 83,833,638 (GRCm39)	I1185F	probably damaging	Het
Pcdhgb1	A	G	18: 37,814,705 (GRCm39)	N399D	probably benign	Het
Pcdhgb6	T	A	18: 37,876,872 (GRCm39)	S527T	probably benign	Het
Phkb	T	A	8: 86,743,493 (GRCm39)	Y530*	probably null	Het
Pira2	A	G	7: 3,844,030 (GRCm39)	S581P	probably benign	Het
Pou4f3	A	T	18: 42,528,329 (GRCm39)	T91S	probably benign	Het
Prpf38a	A	G	4: 108,424,112 (GRCm39)	S296P	unknown	Het
Rnf213	T	C	11: 119,332,975 (GRCm39)	V2729A		Het
Rtl1	G	A	12: 109,557,226 (GRCm39)	Q1538*	probably null	Het
Sars2	T	C	7: 28,447,273 (GRCm39)	S224P	probably damaging	Het
Senp8	A	G	9: 59,645,105 (GRCm39)	V17A	probably benign	Het
Serpinb13	T	A	1: 106,923,562 (GRCm39)	L89*	probably null	Het
Sh3bp2	T	A	5: 34,718,453 (GRCm39)		probably null	Het
Shank2	A	G	7: 143,960,945 (GRCm39)	T254A	probably benign	Het
Smdt1	A	T	15: 82,231,504 (GRCm39)	E12D	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Taar2	A	G	10: 23,817,345 (GRCm39)	N295S	probably damaging	Het
Trim24	A	G	6: 37,892,208 (GRCm39)	Q247R	probably damaging	Het
Trpc4	T	A	3: 54,209,610 (GRCm39)	N658K	probably damaging	Het
Ube2e1	T	C	14: 18,284,348 (GRCm38)	D137G	probably damaging	Het
Ubn1	T	A	16: 4,899,422 (GRCm39)	H1055Q	probably benign	Het
Vmn1r235	A	G	17: 21,482,190 (GRCm39)	T172A	probably benign	Het
Vps13d	A	G	4: 144,882,333 (GRCm39)	F1087L		Het
Xirp2	T	C	2: 67,349,653 (GRCm39)	S3283P	probably damaging	Het
Zeb2	C	A	2: 44,887,158 (GRCm39)	S633I	possibly damaging	Het

Other mutations in B3galnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:B3galnt2	APN	13	14,162,016 (GRCm39)	missense	probably benign	0.15
IGL01149:B3galnt2	APN	13	14,155,270 (GRCm39)	missense	probably benign	0.07
IGL01814:B3galnt2	APN	13	14,161,938 (GRCm39)	missense	probably damaging	1.00
IGL02383:B3galnt2	APN	13	14,171,618 (GRCm39)	makesense	probably null
R0106:B3galnt2	UTSW	13	14,170,378 (GRCm39)	missense	probably benign
R0349:B3galnt2	UTSW	13	14,166,059 (GRCm39)	missense	probably benign
R0676:B3galnt2	UTSW	13	14,170,378 (GRCm39)	missense	probably benign
R1522:B3galnt2	UTSW	13	14,145,354 (GRCm39)	missense	probably damaging	1.00
R1830:B3galnt2	UTSW	13	14,166,119 (GRCm39)	nonsense	probably null
R2035:B3galnt2	UTSW	13	14,140,909 (GRCm39)	missense	probably benign	0.10
R3686:B3galnt2	UTSW	13	14,150,220 (GRCm39)	critical splice donor site	probably null
R3954:B3galnt2	UTSW	13	14,141,039 (GRCm39)	missense	probably benign	0.04
R5369:B3galnt2	UTSW	13	14,169,010 (GRCm39)	splice site	probably null
R5435:B3galnt2	UTSW	13	14,171,575 (GRCm39)	missense	probably benign	0.01
R5564:B3galnt2	UTSW	13	14,169,814 (GRCm39)	missense	probably damaging	1.00
R5628:B3galnt2	UTSW	13	14,169,737 (GRCm39)	splice site	probably null
R6118:B3galnt2	UTSW	13	14,166,094 (GRCm39)	missense	probably damaging	0.96
R6396:B3galnt2	UTSW	13	14,170,333 (GRCm39)	missense	probably damaging	1.00
R6529:B3galnt2	UTSW	13	14,170,377 (GRCm39)	missense	probably benign	0.00
R6656:B3galnt2	UTSW	13	14,150,161 (GRCm39)	missense	probably benign	0.00
R7345:B3galnt2	UTSW	13	14,155,065 (GRCm39)	splice site	probably null
R7439:B3galnt2	UTSW	13	14,169,070 (GRCm39)	missense	probably benign	0.34
R7441:B3galnt2	UTSW	13	14,169,070 (GRCm39)	missense	probably benign	0.34
R7582:B3galnt2	UTSW	13	14,165,986 (GRCm39)	missense	probably damaging	1.00
R7849:B3galnt2	UTSW	13	14,169,077 (GRCm39)	missense	probably benign	0.15
R8135:B3galnt2	UTSW	13	14,145,454 (GRCm39)	critical splice donor site	probably null
R9216:B3galnt2	UTSW	13	14,165,423 (GRCm39)	missense	probably benign	0.08
R9229:B3galnt2	UTSW	13	14,166,107 (GRCm39)	missense	probably damaging	1.00
R9422:B3galnt2	UTSW	13	14,150,136 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- CCATCTCTGGCTCATCGTTACA -3'
(R):5'- AAATCTTGTTCCTTCCAGCCCG -3'

Sequencing Primer
(F):5'- ACACATCTGGGTTGGCTAAC -3'
(R):5'- TAGTCTTTGCACACACATCCTG -3'

Posted On

2022-04-18