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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13954469-13999103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 13994485 bp (GRCm38)

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
9530003J23Rik	G	A	10: 117,238,697		probably benign	Het
Acacb	T	C	5: 114,195,642	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,223,069	V1230I	probably benign	Het
Agpat1	T	A	17: 34,610,909	Y77N	probably damaging	Het
Apc	T	A	18: 34,312,073	I674K	probably damaging	Het
Arpc5	T	C	1: 152,771,436	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,297,931	F119L	probably benign	Het
Asap1	A	G	15: 64,130,256	V402A	probably damaging	Het
Aspg	T	C	12: 112,124,821	V479A	possibly damaging	Het
Bcl3	T	C	7: 19,822,611	T23A	probably benign	Het
Bpifb5	A	G	2: 154,228,933	K215E	possibly damaging	Het
Coa4	T	A	7: 100,539,271	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,491,536		probably null	Het
Dnaaf5	T	G	5: 139,166,113	C506W	probably damaging	Het
Dock3	A	G	9: 107,023,732	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,710,326	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,176,502		probably null	Het
Dsp	A	G	13: 38,195,449	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,636,453	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,051,637	D1192A	probably benign	Het
Epn2	A	T	11: 61,546,848		probably benign	Het
Exoc1	T	A	5: 76,545,348	N360K	probably benign	Het
Fam135b	A	T	15: 71,463,680	V555E	probably damaging	Het
Fam208a	T	A	14: 27,471,645	V934E	probably damaging	Het
Fmn1	A	T	2: 113,441,611	Q108L	unknown	Het
Gcc2	A	G	10: 58,256,901	T48A	probably benign	Het
Gm438	T	C	4: 144,777,762	D273G	probably damaging	Het
Gm6619	T	G	6: 131,490,391	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,722,940	D116V	probably damaging	Het
Hapln3	T	A	7: 79,117,269	T341S	probably benign	Het
Lamb3	C	A	1: 193,332,166	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,440,284	S390T	probably benign	Het
Lrrc63	A	G	14: 75,126,257	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,214,519	M791V	probably benign	Het
Lyg2	A	G	1: 37,911,137	Y37H	possibly damaging	Het
Nrbp1	T	A	5: 31,244,956	M172K	probably damaging	Het
Olfr1044	T	A	2: 86,171,010	D269V	probably damaging	Het
Olfr1261	A	G	2: 89,993,839	I149V	probably benign	Het
Olfr168	T	G	16: 19,530,900	S7R	probably benign	Het
Pcyt2	A	T	11: 120,611,383	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453		probably benign	Het
Phf21b	A	G	15: 84,804,903	S141P	probably damaging	Het
Pigh	G	A	12: 79,089,550	P24S	probably benign	Het
Plekhg3	A	G	12: 76,576,485	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,113,935	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399	I170T	probably damaging	Het
Ptpn9	T	A	9: 57,027,433	Y160*	probably null	Het
Ptprj	T	C	2: 90,449,819	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,463,788	H196L	probably benign	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,400,046		probably null	Het
Sgsm1	T	C	5: 113,274,321	Y489C	probably damaging	Het
Sis	G	A	3: 72,909,041	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,762,818	Y520C	probably damaging	Het
Smc5	A	G	19: 23,242,700	V467A	probably damaging	Het
Spata20	G	A	11: 94,484,041	A245V	probably benign	Het
Steap3	A	C	1: 120,241,518	F350V	probably benign	Het
Sucnr1	A	G	3: 60,086,696	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,430,615	A594V	probably damaging	Het
Swt1	A	T	1: 151,411,064	F226I	probably benign	Het
Taar7f	A	G	10: 24,049,987	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,126,986		probably null	Het
Taok3	C	A	5: 117,250,909	Q460K	probably damaging	Het
Twf2	A	G	9: 106,214,398	E268G	probably damaging	Het
Upf2	A	T	2: 6,018,932	I698F	unknown	Het
Vmn2r35	T	A	7: 7,817,014	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,392,113	T85A	possibly damaging	Het
Vps13d	A	G	4: 145,105,856	S2833P		Het
Xrn1	T	C	9: 96,051,629	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,922,397	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,560,870	R327*	probably null	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
R7345:B3galnt2	UTSW	13	13980480	splice site	probably null
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'- CTGTGTGTAGGGTAAGACACTG -3'
(R):5'- AGCCACATCTTTGACTCCTGG -3'

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

Posted On

2019-10-07