Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:B3galnt2'

576847

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

045515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14129059-14173688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14169070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 368 (V368M)

Ref Sequence

ENSEMBL: ENSMUSP00000097336 (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
AA Change: V368M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: V368M

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 benign
Transcript: ENSMUST00000220681
AA Change: V149M

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000221300
AA Change: V368M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000221333

Predicted Effect

probably benign
Transcript: ENSMUST00000221974
AA Change: V368M

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,332 (GRCm39)	D273G	probably damaging	Het
Acacb	T	C	5: 114,333,703 (GRCm39)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,647,187 (GRCm39)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,604,931 (GRCm39)	F119L	probably benign	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
Bcl3	T	C	7: 19,556,536 (GRCm39)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,070,853 (GRCm39)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,188,478 (GRCm39)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,648,879 (GRCm39)		probably null	Het
Dnaaf5	T	G	5: 139,151,868 (GRCm39)	C506W	probably damaging	Het
Dock3	A	G	9: 106,900,931 (GRCm39)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,621,624 (GRCm39)	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,360,478 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,090,718 (GRCm39)	D1192A	probably benign	Het
Epn2	A	T	11: 61,437,674 (GRCm39)		probably benign	Het
Exoc1	T	A	5: 76,693,195 (GRCm39)	N360K	probably benign	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Hapln3	T	A	7: 78,767,017 (GRCm39)	T341S	probably benign	Het
Lamb3	C	A	1: 193,014,474 (GRCm39)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,578,349 (GRCm39)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,050,380 (GRCm39)	M791V	probably benign	Het
Lyg2	A	G	1: 37,950,218 (GRCm39)	Y37H	possibly damaging	Het
Lyz3	G	A	10: 117,074,602 (GRCm39)		probably benign	Het
Nrbp1	T	A	5: 31,402,300 (GRCm39)	M172K	probably damaging	Het
Or2l13b	T	G	16: 19,349,650 (GRCm39)	S7R	probably benign	Het
Or4c126	A	G	2: 89,824,183 (GRCm39)	I149V	probably benign	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pcyt2	A	T	11: 120,502,209 (GRCm39)	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phf21b	A	G	15: 84,689,104 (GRCm39)	S141P	probably damaging	Het
Pigh	G	A	12: 79,136,324 (GRCm39)	P24S	probably benign	Het
Plekhg3	A	G	12: 76,623,259 (GRCm39)	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,198,392 (GRCm39)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm39)	I170T	probably damaging	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,601,851 (GRCm39)	H196L	probably benign	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,422,187 (GRCm39)	Y489C	probably damaging	Het
Sis	G	A	3: 72,816,374 (GRCm39)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,220,064 (GRCm39)	V467A	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Sucnr1	A	G	3: 59,994,117 (GRCm39)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,266,394 (GRCm39)	A594V	probably damaging	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,017,812 (GRCm39)		probably null	Het
Taok3	C	A	5: 117,388,974 (GRCm39)	Q460K	probably damaging	Het
Tasor	T	A	14: 27,193,602 (GRCm39)	V934E	probably damaging	Het
Twf2	A	G	9: 106,091,597 (GRCm39)	E268G	probably damaging	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,820,013 (GRCm39)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Vps13d	A	G	4: 144,832,426 (GRCm39)	S2833P		Het
Xrn1	T	C	9: 95,933,682 (GRCm39)	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,813,224 (GRCm39)	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,781,132 (GRCm39)	R327*	probably null	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
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
R9350:B3galnt2	UTSW	13	14,170,393 (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'- CTGTGTGTAGGGTAAGACACTG -3'
(R):5'- AGCCACATCTTTGACTCCTGG -3'

Sequencing Primer
(F):5'- CACTGAAGGTGCACAGCTGTAC -3'
(R):5'- ACAAAATTCCCTCAGATTACAGTG -3'

Posted On

2019-10-07