Mutagenetix > Incidental Mutation

Incidental Mutation 'R9012:B3gnt3'

685698

Institutional Source

Beutler Lab

Gene Symbol

B3gnt3

Ensembl Gene

ENSMUSG00000031803

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3

Synonyms

2210008L19Rik

MMRRC Submission

068842-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72143400-72154433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72145673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 232 (H232N)

Ref Sequence

ENSEMBL: ENSMUSP00000034260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034260] [ENSMUST00000034261] [ENSMUST00000051995] [ENSMUST00000110012] [ENSMUST00000110013]

AlphaFold

Q5JCS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000034260
AA Change: H232N

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

SMART Domains

Protein: ENSMUSP00000034260
Gene: ENSMUSG00000031803
AA Change: H232N

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Galactosyl_T	121	314	5.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034261

SMART Domains

Protein: ENSMUSP00000034261
Gene: ENSMUSG00000079019

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
IlGF	26	120	2.46e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051995

SMART Domains

Protein: ENSMUSP00000060073
Gene: ENSMUSG00000031805

Domain	Start	End	E-Value	Type
B41	20	254	2.2e-42	SMART
SH2	370	460	5.57e-8	SMART
low complexity region	488	503	N/A	INTRINSIC
STYKc	517	773	3.58e-12	SMART
TyrKc	818	1091	4.59e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110012

SMART Domains

Protein: ENSMUSP00000105639
Gene: ENSMUSG00000031805

Domain	Start	End	E-Value	Type
B41	20	254	2.2e-42	SMART
SH2	370	460	5.57e-8	SMART
low complexity region	488	503	N/A	INTRINSIC
STYKc	517	773	3.58e-12	SMART
TyrKc	818	1091	4.59e-105	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110013

SMART Domains

Protein: ENSMUSP00000105640
Gene: ENSMUSG00000031805

Domain	Start	End	E-Value	Type
B41	20	254	2.2e-42	SMART
SH2	370	460	5.57e-8	SMART
low complexity region	488	503	N/A	INTRINSIC
STYKc	517	773	3.58e-12	SMART
TyrKc	818	1091	4.59e-105	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

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 beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display increases in thermal pain sensation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	T	C	8: 125,290,954 (GRCm39)	N118D	probably benign	Het
Apol8	T	C	15: 77,634,324 (GRCm39)	D84G	probably benign	Het
Arl6ip5	T	A	6: 97,187,838 (GRCm39)	D19E	probably benign	Het
Btbd10	T	C	7: 112,921,964 (GRCm39)	K347R	probably damaging	Het
Capn5	C	T	7: 97,814,050 (GRCm39)		probably benign	Het
Ccdc181	C	T	1: 164,110,062 (GRCm39)	R390W	probably damaging	Het
Cdc42bpa	T	C	1: 179,859,077 (GRCm39)	V93A		Het
Cfap91	T	C	16: 38,122,335 (GRCm39)	E712G	probably damaging	Het
Clcn1	A	G	6: 42,268,567 (GRCm39)	I191V	possibly damaging	Het
Coro1c	T	C	5: 113,988,737 (GRCm39)	D202G	probably damaging	Het
Cul9	A	G	17: 46,854,447 (GRCm39)	I85T	probably benign	Het
Cyp2c55	C	T	19: 39,030,560 (GRCm39)	T464I	probably benign	Het
Dlgap1	G	A	17: 70,823,182 (GRCm39)	E56K	possibly damaging	Het
Dnajc6	T	C	4: 101,470,156 (GRCm39)	F298L	probably damaging	Het
E130311K13Rik	A	T	3: 63,822,934 (GRCm39)	W237R	probably damaging	Het
Efcab3	G	A	11: 104,711,347 (GRCm39)		probably null	Het
Fes	T	A	7: 80,032,884 (GRCm39)	D287V	possibly damaging	Het
Fstl5	G	T	3: 76,567,027 (GRCm39)	W557L	probably damaging	Het
Gad2	A	G	2: 22,580,263 (GRCm39)	N555D	possibly damaging	Het
Gm10277	C	T	11: 77,676,848 (GRCm39)	R41K	unknown	Het
Gm21834	T	C	17: 58,049,162 (GRCm39)	E18G	probably null	Het
Hnrnpul2	T	C	19: 8,801,829 (GRCm39)	F346L	possibly damaging	Het
Hspa4	A	T	11: 53,159,402 (GRCm39)	V524E	probably benign	Het
Ikbke	T	C	1: 131,201,190 (GRCm39)	I207V	probably damaging	Het
Iqsec3	T	C	6: 121,389,996 (GRCm39)	I492V	unknown	Het
Itsn1	C	A	16: 91,645,849 (GRCm39)	F846L	unknown	Het
Ldhal6b	A	T	17: 5,467,942 (GRCm39)	Y331N	probably damaging	Het
Lrrc37a	T	G	11: 103,389,978 (GRCm39)	T1816P	probably benign	Het
Lzts1	C	T	8: 69,593,550 (GRCm39)	R19H	probably damaging	Het
Mast4	T	A	13: 102,934,606 (GRCm39)	T338S	probably benign	Het
Mst1r	A	G	9: 107,791,960 (GRCm39)	E832G	probably benign	Het
Myom1	T	G	17: 71,407,103 (GRCm39)	D1173E	probably benign	Het
Nlrp9c	T	A	7: 26,074,733 (GRCm39)	I821F	probably benign	Het
Obscn	T	C	11: 59,021,423 (GRCm39)	K806E	probably benign	Het
Or2ag13	T	C	7: 106,313,115 (GRCm39)	M258V	probably benign	Het
Or4c120	A	G	2: 89,000,929 (GRCm39)	I209T	possibly damaging	Het
Or6c215	A	C	10: 129,637,471 (GRCm39)	S308A	probably benign	Het
Palld	T	A	8: 62,173,697 (GRCm39)	S321C	possibly damaging	Het
Pank4	C	A	4: 155,062,847 (GRCm39)		probably benign	Het
Prr35	A	G	17: 26,166,685 (GRCm39)	L284P	probably benign	Het
Psg26	T	A	7: 18,216,596 (GRCm39)	H81L	probably benign	Het
Ptprq	C	T	10: 107,489,411 (GRCm39)	E905K	probably benign	Het
Siglecg	T	A	7: 43,060,523 (GRCm39)	L301Q	probably damaging	Het
Slc25a15	A	G	8: 22,867,878 (GRCm39)	W301R	probably benign	Het
Slco1b2	T	A	6: 141,602,554 (GRCm39)	V169D	probably damaging	Het
Sned1	T	C	1: 93,212,320 (GRCm39)	V1174A	probably damaging	Het
Sorl1	A	G	9: 41,982,491 (GRCm39)	V363A	probably damaging	Het
Sppl3	C	A	5: 115,226,987 (GRCm39)	P239T	probably benign	Het
Stox1	A	T	10: 62,500,611 (GRCm39)	S650T	probably benign	Het
Tbc1d9b	A	G	11: 50,040,688 (GRCm39)	T402A	probably benign	Het
Tmem104	A	T	11: 115,092,144 (GRCm39)	E84D	probably benign	Het
Tox4	T	C	14: 52,523,208 (GRCm39)	V56A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Treml2	A	G	17: 48,615,090 (GRCm39)	T192A	possibly damaging	Het
Vmn2r110	T	C	17: 20,803,627 (GRCm39)	D316G	probably damaging	Het
Vmn2r5	A	T	3: 64,411,915 (GRCm39)	W218R	probably damaging	Het
Vwa3b	A	G	1: 37,124,391 (GRCm39)	S330G	probably benign	Het
Wdr81	A	G	11: 75,339,971 (GRCm39)	V220A	possibly damaging	Het
Zbbx	A	G	3: 74,968,960 (GRCm39)	S504P	possibly damaging	Het
Zfp68	A	T	5: 138,605,283 (GRCm39)	C347S	probably damaging	Het
Zfp936	T	A	7: 42,839,416 (GRCm39)	C294*	probably null	Het

Other mutations in B3gnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:B3gnt3	APN	8	72,145,648 (GRCm39)	missense	possibly damaging	0.57
R0046:B3gnt3	UTSW	8	72,145,567 (GRCm39)	missense	probably damaging	1.00
R0046:B3gnt3	UTSW	8	72,145,567 (GRCm39)	missense	probably damaging	1.00
R0652:B3gnt3	UTSW	8	72,146,466 (GRCm39)	missense	probably benign	0.01
R1104:B3gnt3	UTSW	8	72,146,481 (GRCm39)	missense	possibly damaging	0.93
R2125:B3gnt3	UTSW	8	72,146,002 (GRCm39)	missense	probably damaging	1.00
R2132:B3gnt3	UTSW	8	72,145,971 (GRCm39)	missense	probably damaging	1.00
R2251:B3gnt3	UTSW	8	72,145,462 (GRCm39)	missense	probably damaging	1.00
R2252:B3gnt3	UTSW	8	72,145,462 (GRCm39)	missense	probably damaging	1.00
R2253:B3gnt3	UTSW	8	72,145,462 (GRCm39)	missense	probably damaging	1.00
R4418:B3gnt3	UTSW	8	72,146,413 (GRCm39)	missense	probably benign	0.03
R4854:B3gnt3	UTSW	8	72,145,517 (GRCm39)	missense	probably damaging	1.00
R4911:B3gnt3	UTSW	8	72,145,578 (GRCm39)	missense	probably benign	0.00
R5042:B3gnt3	UTSW	8	72,145,532 (GRCm39)	missense	probably damaging	1.00
R5778:B3gnt3	UTSW	8	72,145,582 (GRCm39)	missense	probably benign	0.02
R6249:B3gnt3	UTSW	8	72,145,306 (GRCm39)	missense	probably damaging	1.00
R7585:B3gnt3	UTSW	8	72,145,972 (GRCm39)	missense	probably damaging	1.00
R7853:B3gnt3	UTSW	8	72,145,357 (GRCm39)	missense	probably damaging	1.00
R8191:B3gnt3	UTSW	8	72,146,122 (GRCm39)	missense	probably benign	0.06
R8734:B3gnt3	UTSW	8	72,146,145 (GRCm39)	missense	probably damaging	0.99
Z1088:B3gnt3	UTSW	8	72,146,409 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- CGTCGTCGATTGGGAACATG -3'
(R):5'- GTTTACAACAGGGAGGACTTCTG -3'

Sequencing Primer
(F):5'- TCGATTGGGAACATGGGGAG -3'
(R):5'- AGGACTTCTGGTGCTTTGCC -3'

Posted On

2021-10-11