Mutagenetix > Incidental Mutation

Incidental Mutation 'R5407:Gcnt3'

426333

Institutional Source

Beutler Lab

Gene Symbol

Gcnt3

Ensembl Gene

ENSMUSG00000032226

Gene Name

glucosaminyl (N-acetyl) transferase 3, mucin type

Synonyms

2010013H22Rik, 2210401J11Rik, 2210021I22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69938778-69945370 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69941471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 366 (Y366H)

Ref Sequence

ENSEMBL: ENSMUSP00000034751 (fasta)

Gene Model

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

AlphaFold

Q5JCT0

Predicted Effect

probably benign
Transcript: ENSMUST00000034751
AA Change: Y366H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000034751
Gene: ENSMUSG00000032226
AA Change: Y366H

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,396,895 (GRCm39)	K279R	probably benign	Het
Aldoart2	A	C	12: 55,612,981 (GRCm39)	Y302S	probably damaging	Het
Arpp21	G	T	9: 111,945,821 (GRCm39)		probably benign	Het
Camk1g	C	T	1: 193,029,680 (GRCm39)		probably null	Het
Cand2	G	A	6: 115,762,161 (GRCm39)	V196I	possibly damaging	Het
Cdc25b	T	A	2: 131,035,567 (GRCm39)	L381Q	probably damaging	Het
Col17a1	C	T	19: 47,654,946 (GRCm39)	G610E	probably damaging	Het
Col19a1	C	T	1: 24,342,575 (GRCm39)	E797K	probably damaging	Het
Col3a1	A	T	1: 45,385,212 (GRCm39)	I110L	probably benign	Het
Col5a2	T	A	1: 45,445,440 (GRCm39)	D506V	possibly damaging	Het
Crp	A	T	1: 172,525,676 (GRCm39)		probably null	Het
Esco1	G	T	18: 10,574,886 (GRCm39)	H729N	probably damaging	Het
Evx2	A	G	2: 74,488,170 (GRCm39)	S217P	probably damaging	Het
Gabrb1	T	C	5: 72,279,364 (GRCm39)	V303A	possibly damaging	Het
Gmpr2	A	G	14: 55,915,733 (GRCm39)	T304A	possibly damaging	Het
Golga3	C	T	5: 110,349,856 (GRCm39)	Q656*	probably null	Het
Gramd1b	T	A	9: 40,366,951 (GRCm39)	M6L	probably damaging	Het
Kif17	T	C	4: 138,025,532 (GRCm39)	Y945H	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lrrk1	T	A	7: 65,920,545 (GRCm39)	Q1486L	probably benign	Het
Mboat7	G	T	7: 3,694,380 (GRCm39)	H72N	probably damaging	Het
Med12l	G	A	3: 59,165,622 (GRCm39)	V1447M	probably damaging	Het
Mrpl3	T	C	9: 104,954,294 (GRCm39)	F333L	probably benign	Het
Nav3	T	C	10: 109,702,796 (GRCm39)	T246A	probably benign	Het
Neil3	A	T	8: 54,054,054 (GRCm39)	V325E	probably benign	Het
Nlrp4g	A	T	9: 124,349,930 (GRCm38)		noncoding transcript	Het
Onecut1	C	T	9: 74,796,738 (GRCm39)	S419F	probably damaging	Het
Or10n1	A	T	9: 39,524,991 (GRCm39)	I43F	probably damaging	Het
Ptp4a1	A	T	1: 30,984,044 (GRCm39)	V58E	probably benign	Het
Radil	C	T	5: 142,493,970 (GRCm39)	R49H	probably damaging	Het
Ralgapa1	T	C	12: 55,723,582 (GRCm39)	E1648G	possibly damaging	Het
Rnft2	C	T	5: 118,380,567 (GRCm39)	M13I	probably damaging	Het
Satb2	A	G	1: 56,987,309 (GRCm39)	L92P	probably damaging	Het
Scn4a	T	C	11: 106,211,715 (GRCm39)	Y1434C	probably damaging	Het
Setx	T	A	2: 29,035,486 (GRCm39)	M657K	probably benign	Het
Shd	A	G	17: 56,280,936 (GRCm39)	E204G	probably damaging	Het
Shh	T	A	5: 28,671,578 (GRCm39)	R62*	probably null	Het
Slc9a4	A	G	1: 40,646,954 (GRCm39)	T483A	probably benign	Het
Tbc1d7	A	C	13: 43,308,178 (GRCm39)	S96A	probably benign	Het
Tfcp2	T	C	15: 100,425,755 (GRCm39)		probably null	Het
Tlk2	T	A	11: 105,131,201 (GRCm39)	S182R	probably damaging	Het
Tppp2	A	G	14: 52,156,955 (GRCm39)		probably null	Het
Trim65	T	C	11: 116,016,906 (GRCm39)	T519A	probably benign	Het
Trio	T	C	15: 27,844,892 (GRCm39)		probably null	Het
Usf3	G	A	16: 44,037,769 (GRCm39)	V750I	probably benign	Het
Utrn	T	A	10: 12,556,369 (GRCm39)	K1480N	probably damaging	Het
Vmn1r58	T	A	7: 5,413,872 (GRCm39)	R119S	probably benign	Het
Xirp2	A	G	2: 67,341,313 (GRCm39)	I1185V	probably benign	Het
Zc3h7b	A	G	15: 81,670,092 (GRCm39)	H654R	probably damaging	Het
Zfyve16	G	T	13: 92,636,792 (GRCm39)	A1306E	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
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
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'- TCCCATAGATGGCTTTGTGAC -3'
(R):5'- CGAGACTTCATTGAACACGTG -3'

Sequencing Primer
(F):5'- TGGCTTTGTGACGTAAATATTCTTC -3'
(R):5'- GTGTTCAGTAACTCAAAAGCCCGG -3'

Posted On

2016-09-01