Mutagenetix > Incidental Mutation

Incidental Mutation 'R4588:Gcnt3'

342621

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

042007-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4588 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69938778-69945370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69941512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 352 (D352V)

Ref Sequence

ENSEMBL: ENSMUSP00000034751 (fasta)

Gene Model

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

AlphaFold

Q5JCT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034751
AA Change: D352V

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

SMART Domains

Protein: ENSMUSP00000034751
Gene: ENSMUSG00000032226
AA Change: D352V

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

0.2673

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (51/52)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,833,701 (GRCm39)		probably null	Het
Abcb4	A	T	5: 8,997,328 (GRCm39)	I936F	probably benign	Het
Adnp2	G	T	18: 80,171,863 (GRCm39)	L849I	probably benign	Het
Atf7ip	T	C	6: 136,576,692 (GRCm39)	S1032P	probably benign	Het
Atr	A	C	9: 95,747,720 (GRCm39)	D334A	probably benign	Het
Atrip	A	T	9: 108,889,347 (GRCm39)	D20E	probably damaging	Het
Atxn7	T	A	14: 14,096,268 (GRCm38)	C43*	probably null	Het
Cfap65	C	A	1: 74,943,215 (GRCm39)	Q1603H	possibly damaging	Het
Cpne5	T	C	17: 29,383,687 (GRCm39)	I327V	probably benign	Het
Ctsa	T	C	2: 164,676,070 (GRCm39)	S41P	possibly damaging	Het
Cyp4x1	A	T	4: 114,965,994 (GRCm39)	L444Q	probably damaging	Het
Dchs1	C	A	7: 105,405,248 (GRCm39)	M2431I	probably benign	Het
Ddi1	T	A	9: 6,266,003 (GRCm39)	H122L	probably benign	Het
Defa21	C	T	8: 21,515,664 (GRCm39)	P21S	probably damaging	Het
Ect2	A	G	3: 27,201,149 (GRCm39)	V77A	probably damaging	Het
Ermap	C	A	4: 119,045,445 (GRCm39)		probably benign	Het
Fancm	G	A	12: 65,165,215 (GRCm39)		probably null	Het
Gys2	A	G	6: 142,395,181 (GRCm39)	M428T	possibly damaging	Het
Igtp	T	A	11: 58,097,508 (GRCm39)	N226K	probably damaging	Het
Itpr2	T	A	6: 146,142,694 (GRCm39)	H1675L	probably benign	Het
Lipo4	G	A	19: 33,476,647 (GRCm39)	P367L	possibly damaging	Het
Lzts3	T	C	2: 130,476,686 (GRCm39)	*587W	probably null	Het
Mast3	T	A	8: 71,233,251 (GRCm39)	K300*	probably null	Het
Mepce	G	A	5: 137,783,534 (GRCm39)	T264I	possibly damaging	Het
Mif4gd	A	T	11: 115,500,372 (GRCm39)	I62N	probably damaging	Het
Or14a260	C	T	7: 85,984,852 (GRCm39)	V251I	probably benign	Het
Or7e175	T	A	9: 20,049,383 (GRCm39)	*324K	probably null	Het
Palm3	A	G	8: 84,756,015 (GRCm39)	K509R	probably benign	Het
Pde11a	T	C	2: 75,859,647 (GRCm39)	T821A	probably damaging	Het
Pik3r5	A	G	11: 68,384,087 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,271,092 (GRCm39)	T3154A	probably benign	Het
Ptprs	A	G	17: 56,732,534 (GRCm39)	Y438H	probably damaging	Het
Rdh8	T	A	9: 20,734,025 (GRCm39)	D70E	probably benign	Het
Scn2a	A	T	2: 65,544,111 (GRCm39)	I831L	possibly damaging	Het
Selenoo	A	G	15: 88,980,921 (GRCm39)	H420R	probably benign	Het
Slc22a16	T	C	10: 40,446,677 (GRCm39)		probably benign	Het
Slc5a1	A	G	5: 33,302,632 (GRCm39)	T208A	probably benign	Het
Sparc	T	C	11: 55,296,062 (GRCm39)	M121V	probably benign	Het
Sstr1	G	T	12: 58,260,417 (GRCm39)	A347S	probably benign	Het
Stab1	C	A	14: 30,879,402 (GRCm39)	V693F	probably benign	Het
Tnn	A	G	1: 159,972,681 (GRCm39)	V307A	probably benign	Het
Trmt1	A	G	8: 85,417,382 (GRCm39)		probably benign	Het
Ttc3	T	C	16: 94,243,760 (GRCm39)	S1255P	probably benign	Het
Ube2ql1	A	C	13: 69,887,276 (GRCm39)	S62A	unknown	Het
Vmn2r84	T	A	10: 130,221,809 (GRCm39)	M804L	probably damaging	Het
Vps13a	T	C	19: 16,617,403 (GRCm39)	T3002A	probably damaging	Het
Vps50	A	G	6: 3,562,306 (GRCm39)	E467G	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
R1241:Gcnt3	UTSW	9	69,941,615 (GRCm39)	missense	probably benign	0.01
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
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'- CCCATAGATGGCTTTGTGACG -3'
(R):5'- GAATGCCTACATGGTGGCTTC -3'

Sequencing Primer
(F):5'- GAACATTATCATCCACCTTTGGG -3'
(R):5'- CTCGAGACTTCATTGAACACGTG -3'

Posted On

2015-09-24