Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Gcnt3'

152005

Institutional Source

Beutler Lab

Gene Symbol

Gcnt3

Ensembl Gene

ENSMUSG00000032226

Gene Name

glucosaminyl (N-acetyl) transferase 3, mucin type

Synonyms

2010013H22Rik, 2210401J11Rik, 2210021I22Rik

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69938778-69945370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69941615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 318 (I318V)

Ref Sequence

ENSEMBL: ENSMUSP00000034751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034751]

AlphaFold

Q5JCT0

Predicted Effect

probably benign
Transcript: ENSMUST00000034751
AA Change: I318V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034751
Gene: ENSMUSG00000032226
AA Change: I318V

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:Branch	133	401	2.1e-63	PFAM

Meta Mutation Damage Score

0.0823

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

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 N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygote null mice have decreases in core 2 O-glycan structures on cell surfaces, decreased immunoglobulin levels, and disrupted mucosal barrier in the intestines. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
9030619P08Rik	A	C	15: 75,301,846 (GRCm39)		noncoding transcript	Het
Aldh1l2	T	C	10: 83,331,889 (GRCm39)	I639V	probably benign	Het
Ambra1	T	C	2: 91,601,241 (GRCm39)		probably benign	Het
Ap5z1	T	C	5: 142,455,869 (GRCm39)	Y299H	probably damaging	Het
Atp6v1b1	A	T	6: 83,733,526 (GRCm39)		probably benign	Het
Atr	G	A	9: 95,832,689 (GRCm39)	V2574I	probably benign	Het
Atxn1l	T	A	8: 110,459,612 (GRCm39)	T217S	probably benign	Het
Ccdc85a	A	G	11: 28,346,150 (GRCm39)	S89P	probably benign	Het
Ccn5	T	A	2: 163,670,997 (GRCm39)	M168K	unknown	Het
Cd209e	A	T	8: 3,899,124 (GRCm39)	I196N	probably damaging	Het
Cdhr4	A	G	9: 107,872,495 (GRCm39)	S247G	probably benign	Het
Cntn6	A	T	6: 104,809,470 (GRCm39)	I502F	probably damaging	Het
Crisp4	T	C	1: 18,193,018 (GRCm39)	Y233C	probably damaging	Het
Ctsb	C	A	14: 63,376,553 (GRCm39)	T261N	probably benign	Het
Ctsk	T	C	3: 95,408,185 (GRCm39)	F14L	probably benign	Het
Dchs1	T	C	7: 105,407,385 (GRCm39)	I2110V	probably damaging	Het
Dennd5b	A	G	6: 148,969,988 (GRCm39)	M155T	probably benign	Het
Echdc3	T	C	2: 6,217,611 (GRCm39)	D54G	probably benign	Het
Egln3	G	A	12: 54,228,479 (GRCm39)	T209I	probably damaging	Het
Fbn1	A	C	2: 125,214,447 (GRCm39)		probably benign	Het
Fkbp15	A	T	4: 62,222,846 (GRCm39)	S1018T	possibly damaging	Het
Flnb	T	C	14: 7,896,503 (GRCm38)	I898T	probably benign	Het
Flt1	T	A	5: 147,536,456 (GRCm39)	Y795F	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,267,614 (GRCm39)	E417G	probably damaging	Het
Fryl	A	G	5: 73,222,268 (GRCm39)		probably benign	Het
Gm11437	T	A	11: 84,055,454 (GRCm39)	H54L	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 150,690,044 (GRCm39)		probably benign	Het
Jarid2	G	A	13: 45,038,368 (GRCm39)		probably benign	Het
Kif5b	A	T	18: 6,214,044 (GRCm39)	V653E	probably benign	Het
Kmt2b	A	G	7: 30,274,365 (GRCm39)	V2113A	probably damaging	Het
Knl1	C	T	2: 118,903,054 (GRCm39)	T1585I	probably benign	Het
Mlxipl	T	A	5: 135,161,572 (GRCm39)	M497K	probably benign	Het
Mre11a	T	A	9: 14,710,935 (GRCm39)	W210R	probably damaging	Het
Mrps22	A	G	9: 98,476,748 (GRCm39)	V207A	probably benign	Het
Myo15a	A	G	11: 60,390,256 (GRCm39)	I2111V	possibly damaging	Het
Myo1a	C	T	10: 127,555,148 (GRCm39)	P838L	probably benign	Het
Nbea	T	A	3: 55,965,461 (GRCm39)	H484L	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nlrp2	T	A	7: 5,331,430 (GRCm39)	D322V	probably damaging	Het
Nrcam	T	C	12: 44,636,947 (GRCm39)	C1057R	probably damaging	Het
Ntsr1	T	C	2: 180,142,394 (GRCm39)	S62P	probably damaging	Het
Nudt18	A	G	14: 70,816,867 (GRCm39)	H157R	probably benign	Het
Or10s1	C	A	9: 39,986,192 (GRCm39)	N200K	probably damaging	Het
Or5g25	T	A	2: 85,477,904 (GRCm39)	T254S	probably damaging	Het
Sidt2	T	C	9: 45,857,002 (GRCm39)	T435A	probably damaging	Het
Snx27	T	C	3: 94,427,540 (GRCm39)	T312A	probably benign	Het
Srebf2	T	C	15: 82,061,720 (GRCm39)	S429P	probably damaging	Het
Suclg2	A	G	6: 95,474,563 (GRCm39)		probably benign	Het
Tchh	A	T	3: 93,352,279 (GRCm39)	E573V	unknown	Het
Tdrd1	A	G	19: 56,850,192 (GRCm39)	T985A	probably benign	Het
Ttc7b	A	G	12: 100,369,698 (GRCm39)	I357T	possibly damaging	Het
Ttn	T	C	2: 76,626,008 (GRCm39)	E13271G	probably damaging	Het
Usp13	A	G	3: 32,969,857 (GRCm39)	E661G	probably damaging	Het
Vasp	T	G	7: 18,992,958 (GRCm39)		probably benign	Het
Vmn2r109	A	T	17: 20,775,503 (GRCm39)	Y75N	possibly damaging	Het
Vmn2r15	T	A	5: 109,440,770 (GRCm39)	N363Y	probably damaging	Het
Vmn2r60	T	A	7: 41,786,476 (GRCm39)	N426K	probably benign	Het
Znhit2	C	A	19: 6,112,288 (GRCm39)	N344K	probably damaging	Het

Other mutations in Gcnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Gcnt3	APN	9	69,941,739 (GRCm39)	missense	probably benign	0.20
IGL02617:Gcnt3	APN	9	69,941,444 (GRCm39)	missense	probably damaging	1.00
IGL02965:Gcnt3	APN	9	69,942,235 (GRCm39)	missense	probably benign	0.00
IGL03113:Gcnt3	APN	9	69,941,983 (GRCm39)	missense	probably damaging	1.00
IGL03374:Gcnt3	APN	9	69,941,695 (GRCm39)	missense	possibly damaging	0.89
PIT4131001:Gcnt3	UTSW	9	69,941,326 (GRCm39)	missense	possibly damaging	0.80
R0012:Gcnt3	UTSW	9	69,941,367 (GRCm39)	missense	probably benign	0.04
R0012:Gcnt3	UTSW	9	69,941,367 (GRCm39)	missense	probably benign	0.04
R1653:Gcnt3	UTSW	9	69,942,359 (GRCm39)	missense	probably damaging	1.00
R1662:Gcnt3	UTSW	9	69,941,659 (GRCm39)	missense	probably benign	0.00
R2213:Gcnt3	UTSW	9	69,941,989 (GRCm39)	missense	probably benign	0.16
R4588:Gcnt3	UTSW	9	69,941,512 (GRCm39)	missense	probably damaging	1.00
R4927:Gcnt3	UTSW	9	69,942,464 (GRCm39)	missense	probably damaging	1.00
R5407:Gcnt3	UTSW	9	69,941,471 (GRCm39)	missense	probably benign	0.00
R5718:Gcnt3	UTSW	9	69,941,552 (GRCm39)	missense	probably benign	0.00
R6974:Gcnt3	UTSW	9	69,942,169 (GRCm39)	missense	probably damaging	1.00
R7883:Gcnt3	UTSW	9	69,941,453 (GRCm39)	missense	probably damaging	0.97
R8215:Gcnt3	UTSW	9	69,941,455 (GRCm39)	missense	probably damaging	1.00
R8483:Gcnt3	UTSW	9	69,941,959 (GRCm39)	missense	probably damaging	1.00
R8558:Gcnt3	UTSW	9	69,941,996 (GRCm39)	nonsense	probably null
R8735:Gcnt3	UTSW	9	69,941,728 (GRCm39)	missense	probably benign	0.01
R9156:Gcnt3	UTSW	9	69,941,939 (GRCm39)	missense	probably damaging	1.00
R9269:Gcnt3	UTSW	9	69,941,290 (GRCm39)	missense	probably damaging	1.00
R9287:Gcnt3	UTSW	9	69,941,693 (GRCm39)	missense	probably damaging	1.00
R9302:Gcnt3	UTSW	9	69,942,529 (GRCm39)	missense	possibly damaging	0.85
R9524:Gcnt3	UTSW	9	69,941,569 (GRCm39)	missense	probably damaging	1.00
R9568:Gcnt3	UTSW	9	69,942,346 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTCCTGAGCAAGACGTGTAAGGTG -3'
(R):5'- ACCAATGCTGAGATGGTCAAGGC -3'

Sequencing Primer
(F):5'- AAGGTGCCCCGTTCTCAATG -3'
(R):5'- GTCAAGGCCCTCAAGCTATTG -3'

Posted On

2014-01-29