Mutagenetix > Incidental Mutation

Incidental Mutation 'R5778:B3gnt3'

446821

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

043376-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72143400-72154433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72145582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 262 (D262G)

Ref Sequence

ENSEMBL: ENSMUSP00000034260 (fasta)

Gene Model

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

AlphaFold

Q5JCS9

Predicted Effect

probably benign
Transcript: ENSMUST00000034260
AA Change: D262G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034260
Gene: ENSMUSG00000031803
AA Change: D262G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212491

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	A	G	8: 124,618,864 (GRCm39)	S340P	probably benign	Het
Anpep	T	C	7: 79,486,139 (GRCm39)	T528A	probably benign	Het
Apob	T	A	12: 8,065,074 (GRCm39)	D4014E	probably benign	Het
Atp23	A	G	10: 126,735,451 (GRCm39)	C78R	probably damaging	Het
Atp8b3	A	G	10: 80,356,007 (GRCm39)	F1235S	probably benign	Het
Bltp1	A	T	3: 37,012,863 (GRCm39)	I1848F	probably damaging	Het
Brca1	G	A	11: 101,416,127 (GRCm39)	A669V	possibly damaging	Het
Caprin2	A	T	6: 148,770,820 (GRCm39)	S391R	probably benign	Het
Cdh15	G	A	8: 123,583,326 (GRCm39)	R43Q	possibly damaging	Het
Celsr1	A	T	15: 85,917,156 (GRCm39)	N272K	probably damaging	Het
Cryzl2	T	G	1: 157,298,357 (GRCm39)	S249A	probably benign	Het
Dsg1b	A	T	18: 20,542,279 (GRCm39)	T929S	possibly damaging	Het
Dusp16	G	T	6: 134,695,277 (GRCm39)	T518N	probably benign	Het
Eno2	A	T	6: 124,743,261 (GRCm39)	H158Q	probably damaging	Het
Ep400	T	C	5: 110,867,450 (GRCm39)	D954G	unknown	Het
Erg28	T	C	12: 85,866,254 (GRCm39)	T75A	possibly damaging	Het
Fam135b	T	A	15: 71,350,881 (GRCm39)	T332S	probably damaging	Het
Fam221b	A	G	4: 43,660,683 (GRCm39)	F357L	probably damaging	Het
Fcgr2b	C	T	1: 170,790,957 (GRCm39)	G279R	probably damaging	Het
Fryl	A	T	5: 73,230,121 (GRCm39)	L1679M	probably damaging	Het
Galm	T	A	17: 80,435,146 (GRCm39)	M1K	probably null	Het
Gsg1	A	T	6: 135,221,348 (GRCm39)	I17N	possibly damaging	Het
Hif3a	A	T	7: 16,785,909 (GRCm39)	I129N	probably damaging	Het
Ighv1-11	A	T	12: 114,576,051 (GRCm39)	W55R	probably damaging	Het
Ighv1-20	C	A	12: 114,687,497 (GRCm39)	K82N	probably benign	Het
Igsf21	C	T	4: 139,764,832 (GRCm39)	E148K	probably benign	Het
Il22b	C	A	10: 118,130,768 (GRCm39)	E43*	probably null	Het
Klhdc7b	A	T	15: 89,271,523 (GRCm39)	R802W	probably damaging	Het
Krt8	T	C	15: 101,912,374 (GRCm39)	I101V	probably damaging	Het
Lrrc7	A	G	3: 157,876,380 (GRCm39)	L570P	probably damaging	Het
Map4k1	C	G	7: 28,693,646 (GRCm39)	N412K	probably benign	Het
Metrnl	A	T	11: 121,605,564 (GRCm39)	I118F	possibly damaging	Het
Mmp12	T	A	9: 7,350,106 (GRCm39)	D202E	probably damaging	Het
Mpp2	A	T	11: 101,955,269 (GRCm39)	S119T	probably benign	Het
Ncoa6	T	C	2: 155,248,688 (GRCm39)	T1539A	probably benign	Het
Nlrc5	A	G	8: 95,206,154 (GRCm39)	T715A	possibly damaging	Het
Nsd1	T	A	13: 55,454,792 (GRCm39)	N1963K	probably damaging	Het
Nsd3	T	C	8: 26,149,834 (GRCm39)	Y340H	probably damaging	Het
Nwd1	T	A	8: 73,419,745 (GRCm39)	S977T	probably damaging	Het
Or5d39	T	A	2: 87,979,961 (GRCm39)	Y134F	probably damaging	Het
Or7d10	G	T	9: 19,832,337 (GRCm39)	M277I	probably benign	Het
Pcdh8	T	C	14: 80,008,197 (GRCm39)	E122G	probably damaging	Het
Pcmtd2	A	C	2: 181,496,991 (GRCm39)	T323P	probably benign	Het
Pign	C	A	1: 105,519,447 (GRCm39)	G492C	probably damaging	Het
Plppr3	A	G	10: 79,702,337 (GRCm39)	V245A	possibly damaging	Het
Prl7a2	C	T	13: 27,844,983 (GRCm39)	W134*	probably null	Het
Prom1	A	T	5: 44,164,389 (GRCm39)	N722K	probably benign	Het
Rasal2	A	T	1: 156,988,860 (GRCm39)	N663K	probably damaging	Het
Rgl1	G	T	1: 152,428,172 (GRCm39)	H315Q	probably benign	Het
Smpdl3a	C	A	10: 57,677,097 (GRCm39)	A65E	probably damaging	Het
Spdye4b	G	A	5: 143,188,142 (GRCm39)	D212N	probably damaging	Het
Tafa3	T	A	3: 104,679,505 (GRCm39)	K126N	probably damaging	Het
Tanc1	G	T	2: 59,529,691 (GRCm39)		probably null	Het
Trio	A	G	15: 27,856,250 (GRCm39)	V706A	probably benign	Het
Tshz1	T	A	18: 84,033,805 (GRCm39)	Q201L	probably damaging	Het
Ubqln1	C	T	13: 58,331,131 (GRCm39)	M365I	probably benign	Het
Usp42	A	T	5: 143,705,331 (GRCm39)	Y383N	probably damaging	Het
Vmn1r189	A	G	13: 22,286,552 (GRCm39)	I95T	probably damaging	Het
Vmn2r49	A	T	7: 9,710,274 (GRCm39)	S819R	probably damaging	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
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
R9012:B3gnt3	UTSW	8	72,145,673 (GRCm39)	missense	probably damaging	1.00
Z1088:B3gnt3	UTSW	8	72,146,409 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TCGAAGGATGACACACGTG -3'
(R):5'- GTGGCAGCTAACCTACTGTAC -3'

Sequencing Primer
(F):5'- TGACACACGTGGGCTAGG -3'
(R):5'- TGTACCAACGCCAGCTTCG -3'

Posted On

2016-12-15