Mutagenetix > Incidental Mutation

Incidental Mutation 'R5689:Gcnt1'

443604

Institutional Source

Beutler Lab

Gene Symbol

Gcnt1

Ensembl Gene

ENSMUSG00000038843

Gene Name

glucosaminyl (N-acetyl) transferase 1, core 2

Synonyms

C2 GlcNAcT, IGnT, 5630400D21Rik, beta-1, 6-N-acetylglucosaminyltransferase

MMRRC Submission

043322-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17303505-17350208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17306768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 319 (D319V)

Ref Sequence

ENSEMBL: ENSMUSP00000133935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169897] [ENSMUST00000174236]

AlphaFold

Q09324

PDB Structure

X-ray crystal structure of murine leukocyte-type Core 2 b1,6-N-acetylglucosaminyltransferase (C2GnT-L) [X-RAY DIFFRACTION]
X-ray crystal structure of murine leukocyte-type Core 2 b1,6-N-acetylglucosaminyltransferase (C2GnT-L) in complex with Galb1,3GalNAc [X-RAY DIFFRACTION]
Structure and mechanisim of core 2 beta1,6-n-acetylglucosaminyltransferase: a Metal-ion independent gt-a glycosyltransferase [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000169897
AA Change: D319V

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

SMART Domains

Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: D319V

Domain	Start	End	E-Value	Type
transmembrane domain	17	34	N/A	INTRINSIC
Pfam:Branch	123	392	9.3e-66	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174137

Predicted Effect

probably damaging
Transcript: ENSMUST00000174236
AA Change: D319V

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

SMART Domains

Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: D319V

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Pfam:Branch	127	396	5.7e-65	PFAM

Meta Mutation Damage Score

0.9670

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (63/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this allele display a grossly normal phenotype and are fertile. There are abnormalities in white blood cell counts and in inflammatory response however. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,051,412 (GRCm39)	C844F	probably benign	Het
Afdn	T	C	17: 14,075,621 (GRCm39)	V945A	probably damaging	Het
Aimp2	T	C	5: 143,843,389 (GRCm39)	D67G	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp11b	G	T	3: 35,888,501 (GRCm39)	V924F	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Cfb	T	A	17: 35,080,770 (GRCm39)	T76S	probably benign	Het
Cmpk2	A	T	12: 26,519,766 (GRCm39)	H139L	probably benign	Het
Cypt4	T	C	9: 24,536,542 (GRCm39)	S11P	possibly damaging	Het
Dbx1	A	G	7: 49,282,519 (GRCm39)	F229L	probably damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dnah7a	A	G	1: 53,444,857 (GRCm39)	V3949A	possibly damaging	Het
Dnajc25	A	G	4: 59,017,716 (GRCm39)	E6G	probably damaging	Het
Dync2h1	C	A	9: 7,169,689 (GRCm39)	V263F	probably damaging	Het
Eno4	T	A	19: 58,959,088 (GRCm39)	D403E	probably benign	Het
Evi5l	C	T	8: 4,255,460 (GRCm39)	Q542*	probably null	Het
Fam135a	A	G	1: 24,068,134 (GRCm39)	S12P	probably benign	Het
Flnc	G	A	6: 29,441,591 (GRCm39)	A458T	probably benign	Het
Fnip1	T	C	11: 54,393,115 (GRCm39)	V517A	probably damaging	Het
Galc	G	T	12: 98,179,245 (GRCm39)	H361N	possibly damaging	Het
Gask1a	T	C	9: 121,794,754 (GRCm39)	F303L	probably damaging	Het
Gm26996	T	C	6: 130,555,258 (GRCm39)		noncoding transcript	Het
Gm5321	A	T	7: 6,022,268 (GRCm39)		noncoding transcript	Het
Grin3b	T	C	10: 79,810,465 (GRCm39)	L657P	probably damaging	Het
Gstm5	T	C	3: 107,803,981 (GRCm39)	F54S	probably damaging	Het
Ilk	C	A	7: 105,390,857 (GRCm39)	L267I	probably benign	Het
Lifr	A	G	15: 7,214,285 (GRCm39)	Y713C	probably damaging	Het
Lnx2	A	T	5: 146,965,961 (GRCm39)	V386E	probably damaging	Het
Lrch1	T	C	14: 75,023,764 (GRCm39)	E587G	probably damaging	Het
Or10g3	C	T	14: 52,610,214 (GRCm39)	V99M	possibly damaging	Het
Osgin1	A	G	8: 120,171,728 (GRCm39)	*173W	probably null	Het
Pcdhga7	C	A	18: 37,849,736 (GRCm39)	P581H	probably damaging	Het
Pde4dip	A	T	3: 97,599,683 (GRCm39)	L2384*	probably null	Het
Phf12	T	A	11: 77,914,551 (GRCm39)	N115K	probably damaging	Het
Pmel	A	G	10: 128,552,170 (GRCm39)	T335A	probably damaging	Het
Polr3e	C	A	7: 120,539,912 (GRCm39)	T579K	possibly damaging	Het
Ptprc	A	G	1: 138,045,515 (GRCm39)	V164A	probably benign	Het
Rapsn	T	C	2: 90,866,269 (GRCm39)	F43S	probably damaging	Het
Rarb	T	A	14: 16,434,177 (GRCm38)	I334F	probably damaging	Het
Rev3l	T	C	10: 39,670,954 (GRCm39)	Y167H	probably damaging	Het
Rnf146	T	C	10: 29,223,800 (GRCm39)	T29A	probably benign	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc5a10	C	T	11: 61,598,710 (GRCm39)	M223I	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Slitrk6	C	T	14: 110,989,558 (GRCm39)	E50K	probably benign	Het
Smg8	A	G	11: 86,975,949 (GRCm39)	F544S	probably damaging	Het
Tnpo3	T	C	6: 29,571,063 (GRCm39)	M444V	possibly damaging	Het
Trav7d-4	G	A	14: 53,007,651 (GRCm39)	R48H	probably damaging	Het
Trim50	A	T	5: 135,382,516 (GRCm39)	T123S	probably damaging	Het
Trpc4ap	C	G	2: 155,512,955 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,618,620 (GRCm39)	R14475S	probably damaging	Het
Uts2	A	T	4: 151,083,565 (GRCm39)	T59S	possibly damaging	Het
Vmn1r52	T	C	6: 90,156,232 (GRCm39)	S179P	possibly damaging	Het
Vmn2r116	A	G	17: 23,616,693 (GRCm39)	H537R	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Zfhx2	T	C	14: 55,311,360 (GRCm39)	T445A	possibly damaging	Het
Zfp638	T	C	6: 83,906,054 (GRCm39)	V73A	probably damaging	Het

Other mutations in Gcnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02700:Gcnt1	APN	19	17,306,780 (GRCm39)	missense	probably damaging	1.00
IGL02836:Gcnt1	APN	19	17,307,493 (GRCm39)	missense	probably benign
IGL02977:Gcnt1	APN	19	17,306,738 (GRCm39)	missense	probably damaging	1.00
IGL03302:Gcnt1	APN	19	17,306,547 (GRCm39)	missense	probably benign	0.25
magenta	UTSW	19	17,306,768 (GRCm39)	missense	probably damaging	1.00
Violet	UTSW	19	17,306,723 (GRCm39)	missense	probably damaging	1.00
R0183:Gcnt1	UTSW	19	17,306,481 (GRCm39)	missense	probably benign	0.23
R0440:Gcnt1	UTSW	19	17,307,680 (GRCm39)	missense	probably benign	0.00
R1159:Gcnt1	UTSW	19	17,307,168 (GRCm39)	missense	possibly damaging	0.90
R1523:Gcnt1	UTSW	19	17,307,197 (GRCm39)	missense	probably damaging	1.00
R2240:Gcnt1	UTSW	19	17,306,695 (GRCm39)	missense	possibly damaging	0.91
R4510:Gcnt1	UTSW	19	17,307,641 (GRCm39)	missense	probably benign	0.00
R4511:Gcnt1	UTSW	19	17,307,641 (GRCm39)	missense	probably benign	0.00
R7765:Gcnt1	UTSW	19	17,306,723 (GRCm39)	missense	probably damaging	1.00
R8669:Gcnt1	UTSW	19	17,307,143 (GRCm39)	missense	probably benign	0.38
R8739:Gcnt1	UTSW	19	17,307,437 (GRCm39)	missense	probably benign	0.00
R9082:Gcnt1	UTSW	19	17,307,559 (GRCm39)	missense	probably benign	0.00
R9589:Gcnt1	UTSW	19	17,307,422 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCAAGTCACCAGCTCCGAAG -3'
(R):5'- TGCCTCCCAACAAGGAAGAG -3'

Sequencing Primer
(F):5'- ACAGAGCGCACGTGGACTC -3'
(R):5'- TACACCGTTGTCGATGGGAAGC -3'

Posted On

2016-11-09