Mutagenetix > Incidental Mutation

Incidental Mutation 'R8559:Mgat3'

660949

Institutional Source

Beutler Lab

Gene Symbol

Mgat3

Ensembl Gene

ENSMUSG00000042428

Gene Name

mannoside acetylglucosaminyltransferase 3

Synonyms

GnT-III, 1110038J12Rik

MMRRC Submission

068522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R8559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80057922-80099720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80096370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 399 (Y399F)

Ref Sequence

ENSEMBL: ENSMUSP00000043077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044970]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044970
AA Change: Y399F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043077
Gene: ENSMUSG00000042428
AA Change: Y399F

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	73	87	N/A	INTRINSIC
Pfam:Glyco_transf_17	191	362	3.2e-28	PFAM

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.] There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced DEN and PB-induced hepatic tumors and reduced hepatocyte proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	T	A	10: 89,568,048 (GRCm39)	H19L	probably benign	Het
Adamts9	A	T	6: 92,784,117 (GRCm39)	V1579E	probably benign	Het
Arhgap40	C	T	2: 158,383,721 (GRCm39)	R435C	probably damaging	Het
Atp1a4	T	C	1: 172,078,897 (GRCm39)	D207G	probably damaging	Het
Btaf1	A	G	19: 36,964,273 (GRCm39)	N948S	probably benign	Het
Calcr	G	A	6: 3,692,603 (GRCm39)	P417L	probably damaging	Het
Ccn2	CCCGCCAACCGC	CCCGC	10: 24,471,966 (GRCm39)		probably null	Het
Cep250	T	A	2: 155,834,656 (GRCm39)	S2194T	probably damaging	Het
Clcn6	C	T	4: 148,111,032 (GRCm39)	V102M	possibly damaging	Het
Cog2	T	C	8: 125,269,647 (GRCm39)	S396P	probably benign	Het
Col28a1	C	A	6: 8,166,681 (GRCm39)	R265L	unknown	Het
Cpa6	C	T	1: 10,478,574 (GRCm39)	W254*	probably null	Het
Crtc2	T	A	3: 90,170,904 (GRCm39)	M659K	possibly damaging	Het
Dnah7c	A	G	1: 46,764,299 (GRCm39)	Y3020C	probably damaging	Het
Dok2	C	A	14: 71,014,968 (GRCm39)	H232N	probably benign	Het
Edem3	A	G	1: 151,694,169 (GRCm39)	E834G	probably benign	Het
Elac2	T	A	11: 64,872,502 (GRCm39)		probably null	Het
Epx	T	A	11: 87,755,618 (GRCm39)	I689F	probably damaging	Het
Exd2	G	A	12: 80,522,631 (GRCm39)	R30H	probably benign	Het
Gja1	T	C	10: 56,264,304 (GRCm39)	L221P	probably damaging	Het
Gli3	T	A	13: 15,834,717 (GRCm39)	L400Q	probably damaging	Het
Gm8439	T	A	4: 120,458,008 (GRCm39)	W50R	unknown	Het
Greb1	T	A	12: 16,746,436 (GRCm39)	D1278V	probably damaging	Het
Grin3a	C	A	4: 49,770,555 (GRCm39)	C739F	probably damaging	Het
Gucy2g	C	A	19: 55,198,786 (GRCm39)	V786F	probably benign	Het
Hmcn1	G	A	1: 150,551,789 (GRCm39)	T2605I	probably benign	Het
Hmgxb3	T	A	18: 61,288,491 (GRCm39)	T459S	probably benign	Het
Ift172	T	C	5: 31,413,921 (GRCm39)	H1469R	probably damaging	Het
Il1rap	A	G	16: 26,530,884 (GRCm39)	I407V	probably benign	Het
Inppl1	G	T	7: 101,478,834 (GRCm39)	S555*	probably null	Het
Krt8	T	C	15: 101,909,979 (GRCm39)	M142V	probably benign	Het
Lrrk1	T	A	7: 65,932,075 (GRCm39)	N1049I	possibly damaging	Het
Megf10	G	A	18: 57,373,699 (GRCm39)	A166T	probably damaging	Het
Mei4	A	T	9: 81,907,684 (GRCm39)	H338L	probably benign	Het
Mfsd2b	T	C	12: 4,921,471 (GRCm39)	T33A	possibly damaging	Het
Mtmr4	C	T	11: 87,494,950 (GRCm39)	T414I	probably damaging	Het
Muc4	T	C	16: 32,754,715 (GRCm38)	S1530P	unknown	Het
Myl4	T	C	11: 104,474,930 (GRCm39)	V93A	possibly damaging	Het
N4bp2	T	A	5: 65,982,628 (GRCm39)	S1627R	possibly damaging	Het
Narf	T	G	11: 121,141,258 (GRCm39)		probably null	Het
Nbas	A	C	12: 13,402,809 (GRCm39)	I788L	probably benign	Het
Nlrc3	A	G	16: 3,783,146 (GRCm39)	S104P	probably benign	Het
Or14j6	A	T	17: 38,214,719 (GRCm39)	Y94F	probably benign	Het
Or4a68	T	A	2: 89,270,528 (GRCm39)	I32F	probably benign	Het
Or4c11	A	T	2: 88,695,527 (GRCm39)	I193L	probably benign	Het
Or8k3	A	G	2: 86,058,988 (GRCm39)	V109A	probably benign	Het
Ppp4r4	A	T	12: 103,559,420 (GRCm39)	T534S	probably benign	Het
Prg3	A	G	2: 84,819,680 (GRCm39)	E58G	probably benign	Het
Prima1	A	G	12: 103,163,512 (GRCm39)	V153A	possibly damaging	Het
Rp1	A	T	1: 4,419,784 (GRCm39)	Y443N	probably damaging	Het
Rpgrip1	T	C	14: 52,386,714 (GRCm39)	S882P	unknown	Het
Scn1a	T	A	2: 66,118,077 (GRCm39)	D412V	probably damaging	Het
Srcin1	T	C	11: 97,427,975 (GRCm39)	T180A	probably damaging	Het
Suox	A	G	10: 128,506,600 (GRCm39)	L476P	probably damaging	Het
Tas2r104	T	C	6: 131,662,388 (GRCm39)	Y107C	probably damaging	Het
Tubg2	T	C	11: 101,047,610 (GRCm39)	V65A	probably damaging	Het
Ubn1	T	C	16: 4,882,634 (GRCm39)	V365A	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,646 (GRCm39)	M807V	probably benign	Het
Vmn2r75	T	A	7: 85,815,480 (GRCm39)	Y128F	possibly damaging	Het
Vps13b	A	T	15: 35,876,788 (GRCm39)	I2814F	probably damaging	Het
Vps54	T	C	11: 21,214,815 (GRCm39)	Y108H	probably damaging	Het
Wdr6	T	A	9: 108,452,593 (GRCm39)	E430V	probably benign	Het
Zfp619	T	A	7: 39,186,559 (GRCm39)	V863E	probably benign	Het

Other mutations in Mgat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Mgat3	APN	15	80,096,634 (GRCm39)	missense	probably damaging	1.00
IGL01134:Mgat3	APN	15	80,096,377 (GRCm39)	missense	probably benign	0.17
R0077:Mgat3	UTSW	15	80,096,778 (GRCm39)	missense	probably benign	0.00
R1171:Mgat3	UTSW	15	80,095,838 (GRCm39)	missense	probably benign	0.26
R1885:Mgat3	UTSW	15	80,095,820 (GRCm39)	missense	probably benign	0.25
R1886:Mgat3	UTSW	15	80,095,820 (GRCm39)	missense	probably benign	0.25
R1986:Mgat3	UTSW	15	80,096,390 (GRCm39)	missense	probably benign	0.04
R2125:Mgat3	UTSW	15	80,096,087 (GRCm39)	missense	probably benign	0.00
R3081:Mgat3	UTSW	15	80,096,055 (GRCm39)	missense	probably benign	0.33
R4819:Mgat3	UTSW	15	80,096,550 (GRCm39)	missense	probably damaging	1.00
R4992:Mgat3	UTSW	15	80,096,743 (GRCm39)	missense	probably benign
R5083:Mgat3	UTSW	15	80,095,499 (GRCm39)	missense	possibly damaging	0.92
R5356:Mgat3	UTSW	15	80,096,655 (GRCm39)	missense	probably damaging	1.00
R5356:Mgat3	UTSW	15	80,095,811 (GRCm39)	missense	possibly damaging	0.88
R6508:Mgat3	UTSW	15	80,096,225 (GRCm39)	missense	possibly damaging	0.90
R6784:Mgat3	UTSW	15	80,096,401 (GRCm39)	missense	probably damaging	0.98
R7021:Mgat3	UTSW	15	80,096,655 (GRCm39)	missense	probably damaging	1.00
R7056:Mgat3	UTSW	15	80,096,097 (GRCm39)	missense	probably damaging	0.99
R7592:Mgat3	UTSW	15	80,095,193 (GRCm39)	missense	probably damaging	0.96
R7774:Mgat3	UTSW	15	80,095,743 (GRCm39)	missense	probably damaging	0.96
R7819:Mgat3	UTSW	15	80,095,973 (GRCm39)	nonsense	probably null
R8678:Mgat3	UTSW	15	80,096,472 (GRCm39)	missense	possibly damaging	0.74
R9285:Mgat3	UTSW	15	80,096,538 (GRCm39)	missense	probably damaging	1.00
R9483:Mgat3	UTSW	15	80,095,641 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGTGCTGTTCCTCAAACTC -3'
(R):5'- TCAAGCTGCGGATGTAATTGAG -3'

Sequencing Primer
(F):5'- TCAAACTCTACGATGGCTGG -3'
(R):5'- CGGATGTAATTGAGGTCCCTC -3'

Posted On

2021-03-08