Mutagenetix > Incidental Mutation

Incidental Mutation 'R7853:B3gnt3'

607071

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

045906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7853 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71690756-71701789 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71692713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 337 (Y337C)

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: Y337C

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

SMART Domains

Protein: ENSMUSP00000034260
Gene: ENSMUSG00000031803
AA Change: Y337C

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: 98.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,473,680 (GRCm38)	I26T	probably damaging	Het
Aadacl4	G	T	4: 144,618,022 (GRCm38)	A123S	probably benign	Het
Adamts20	A	C	15: 94,345,990 (GRCm38)	C619G	probably damaging	Het
Ahcyl1	C	A	3: 107,668,288 (GRCm38)	V394L	probably benign	Het
Ankrd17	A	C	5: 90,238,966 (GRCm38)	L2378V	possibly damaging	Het
Bcl10	A	G	3: 145,924,511 (GRCm38)	K18R	possibly damaging	Het
Calcr	G	A	6: 3,707,499 (GRCm38)	A267V	probably benign	Het
Ces1d	C	T	8: 93,175,067 (GRCm38)	G425S	probably benign	Het
Col1a1	G	T	11: 94,947,679 (GRCm38)	R899L	unknown	Het
Commd1	C	T	11: 22,956,532 (GRCm38)	R168H	possibly damaging	Het
Cps1	T	C	1: 67,174,481 (GRCm38)	S791P	possibly damaging	Het
Ctsj	T	A	13: 61,004,070 (GRCm38)	I58F	probably damaging	Het
Cyp2j5	T	A	4: 96,641,419 (GRCm38)	K238N	probably benign	Het
Dlgap4	A	G	2: 156,705,882 (GRCm38)	D423G	probably benign	Het
Egln1	T	C	8: 124,948,517 (GRCm38)	N180D	probably benign	Het
Ehd1	T	C	19: 6,277,195 (GRCm38)	F74S	probably damaging	Het
Ext1	G	A	15: 53,107,485 (GRCm38)	A350V	probably damaging	Het
Fam186b	T	A	15: 99,280,747 (GRCm38)	I233F	probably damaging	Het
Fam193a	T	G	5: 34,440,129 (GRCm38)	N91K	probably benign	Het
Far1	T	A	7: 113,554,148 (GRCm38)	N329K	probably damaging	Het
Fhad1	A	G	4: 141,909,823 (GRCm38)	S1111P	probably damaging	Het
Fhl2	A	G	1: 43,141,824 (GRCm38)	S69P	probably damaging	Het
Flg2	C	A	3: 93,220,747 (GRCm38)	P2322Q	unknown	Het
Flvcr1	A	G	1: 191,025,646 (GRCm38)	Y108H	probably damaging	Het
Fos	T	A	12: 85,476,018 (GRCm38)	S235T	probably benign	Het
Foxf1	T	A	8: 121,084,699 (GRCm38)	S101T	probably damaging	Het
Gfer	C	A	17: 24,694,285 (GRCm38)	D198Y	probably damaging	Het
Ggps1	T	C	13: 14,054,449 (GRCm38)	I50V	probably benign	Het
Gkn2	A	G	6: 87,378,273 (GRCm38)	T155A	probably benign	Het
Gm49333	T	A	16: 20,644,260 (GRCm38)		probably null	Het
Gna12	C	T	5: 140,760,694 (GRCm38)	C332Y	probably damaging	Het
H2-Ke6	T	G	17: 34,027,437 (GRCm38)	D117A	probably benign	Het
Hc	T	A	2: 35,010,033 (GRCm38)	Y1096F	probably damaging	Het
Hoxa3	G	A	6: 52,170,287 (GRCm38)		probably benign	Het
Ifi206	A	T	1: 173,471,534 (GRCm38)	Y835*	probably null	Het
Ighv13-2	T	G	12: 114,357,924 (GRCm38)	E65A	probably damaging	Het
Kif5a	A	T	10: 127,235,668 (GRCm38)	Y770*	probably null	Het
Lfng	A	G	5: 140,607,629 (GRCm38)	S72G	probably benign	Het
Lipo2	C	T	19: 33,759,944 (GRCm38)		probably benign	Het
Lnpep	C	T	17: 17,562,847 (GRCm38)	S564N	probably benign	Het
Mfhas1	T	A	8: 35,589,871 (GRCm38)	L500*	probably null	Het
Mllt6	G	A	11: 97,670,316 (GRCm38)	V277I	probably benign	Het
Mroh5	C	T	15: 73,791,340 (GRCm38)	D192N	probably benign	Het
Myo1f	T	A	17: 33,576,698 (GRCm38)	V106D	probably damaging	Het
Mypn	T	A	10: 63,145,873 (GRCm38)	I643F	probably benign	Het
Nup188	A	G	2: 30,323,563 (GRCm38)	N669D	possibly damaging	Het
Olfr126	C	G	17: 37,850,823 (GRCm38)	T77R	probably damaging	Het
Olfr154	T	C	2: 85,664,345 (GRCm38)	T30A	probably benign	Het
Olfr281	T	C	15: 98,456,985 (GRCm38)	V225A	probably benign	Het
Olfr458	A	T	6: 42,460,639 (GRCm38)	C127S	probably damaging	Het
Osbpl10	A	G	9: 115,207,658 (GRCm38)	T241A	probably damaging	Het
Peg3	C	T	7: 6,708,840 (GRCm38)	E1128K	possibly damaging	Het
Plch1	C	A	3: 63,773,647 (GRCm38)	M186I	probably benign	Het
Pon3	A	C	6: 5,236,911 (GRCm38)	L152R	probably damaging	Het
Prr36	G	A	8: 4,213,905 (GRCm38)	P587L	unknown	Het
Psma2	T	A	13: 14,625,247 (GRCm38)	I192N	probably damaging	Het
Rbm11	T	C	16: 75,593,035 (GRCm38)	F30L	probably damaging	Het
Rpap3	G	A	15: 97,678,418 (GRCm38)	A622V	possibly damaging	Het
Scgb2b11	T	A	7: 32,209,382 (GRCm38)	N98Y	probably damaging	Het
Siglec1	A	G	2: 131,081,292 (GRCm38)	L511P	probably damaging	Het
Sirpb1c	C	T	3: 15,832,992 (GRCm38)	V228M	probably damaging	Het
Smpd4	T	A	16: 17,642,741 (GRCm38)	Y804N	probably damaging	Het
Sult6b2	T	C	6: 142,801,798 (GRCm38)	D75G	not run	Het
Sycp3	A	C	10: 88,466,506 (GRCm38)	K119N	probably damaging	Het
Syne2	T	C	12: 76,031,504 (GRCm38)	L4703P	probably damaging	Het
Tex12	C	G	9: 50,559,223 (GRCm38)	L20F	possibly damaging	Het
Them5	T	A	3: 94,343,296 (GRCm38)	Y55*	probably null	Het
Tmem43	A	T	6: 91,481,986 (GRCm38)	D213V	probably benign	Het
Tnfrsf10b	A	C	14: 69,767,790 (GRCm38)	Q44P	unknown	Het
Trbv2	A	T	6: 41,047,902 (GRCm38)	Q84L	probably benign	Het
Trim2	C	T	3: 84,305,230 (GRCm38)		probably benign	Het
Trim36	A	G	18: 46,172,491 (GRCm38)	V475A	probably benign	Het
Ttbk1	C	A	17: 46,447,343 (GRCm38)	E788D	probably benign	Het
Ttn	T	A	2: 76,745,912 (GRCm38)	N24879I	probably damaging	Het
Ttn	T	C	2: 76,713,282 (GRCm38)	D33120G	probably damaging	Het
Ube4a	T	A	9: 44,953,010 (GRCm38)	Q76L	probably benign	Het
Vmn2r27	T	A	6: 124,192,021 (GRCm38)	I717F	probably damaging	Het
Vmn2r45	T	C	7: 8,482,988 (GRCm38)	K434E	possibly damaging	Het
Vta1	T	C	10: 14,655,717 (GRCm38)	T305A	probably damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240 (GRCm38)		probably benign	Het

Other mutations in B3gnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:B3gnt3	APN	8	71,693,004 (GRCm38)	missense	possibly damaging	0.57
R0046:B3gnt3	UTSW	8	71,692,923 (GRCm38)	missense	probably damaging	1.00
R0046:B3gnt3	UTSW	8	71,692,923 (GRCm38)	missense	probably damaging	1.00
R0652:B3gnt3	UTSW	8	71,693,822 (GRCm38)	missense	probably benign	0.01
R1104:B3gnt3	UTSW	8	71,693,837 (GRCm38)	missense	possibly damaging	0.93
R2125:B3gnt3	UTSW	8	71,693,358 (GRCm38)	missense	probably damaging	1.00
R2132:B3gnt3	UTSW	8	71,693,327 (GRCm38)	missense	probably damaging	1.00
R2251:B3gnt3	UTSW	8	71,692,818 (GRCm38)	missense	probably damaging	1.00
R2252:B3gnt3	UTSW	8	71,692,818 (GRCm38)	missense	probably damaging	1.00
R2253:B3gnt3	UTSW	8	71,692,818 (GRCm38)	missense	probably damaging	1.00
R4418:B3gnt3	UTSW	8	71,693,769 (GRCm38)	missense	probably benign	0.03
R4854:B3gnt3	UTSW	8	71,692,873 (GRCm38)	missense	probably damaging	1.00
R4911:B3gnt3	UTSW	8	71,692,934 (GRCm38)	missense	probably benign	0.00
R5042:B3gnt3	UTSW	8	71,692,888 (GRCm38)	missense	probably damaging	1.00
R5778:B3gnt3	UTSW	8	71,692,938 (GRCm38)	missense	probably benign	0.02
R6249:B3gnt3	UTSW	8	71,692,662 (GRCm38)	missense	probably damaging	1.00
R7585:B3gnt3	UTSW	8	71,693,328 (GRCm38)	missense	probably damaging	1.00
R8191:B3gnt3	UTSW	8	71,693,478 (GRCm38)	missense	probably benign	0.06
R8734:B3gnt3	UTSW	8	71,693,501 (GRCm38)	missense	probably damaging	0.99
R9012:B3gnt3	UTSW	8	71,693,029 (GRCm38)	missense	probably damaging	1.00
Z1088:B3gnt3	UTSW	8	71,693,765 (GRCm38)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TCCTTGAAGCCAGCCCTTTG -3'
(R):5'- AAGTACTTCATCCCCGCTCTGG -3'

Sequencing Primer
(F):5'- AGCCCTTTGCACGTGGATG -3'
(R):5'- AGATACCCGCCCTACTGTG -3'

Posted On

2019-12-20