Mutagenetix > Incidental Mutation

Incidental Mutation 'R3837:Gcnt4'

275715

Institutional Source

Beutler Lab

Gene Symbol

Gcnt4

Ensembl Gene

ENSMUSG00000091387

Gene Name

glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)

Synonyms

LOC238786, C2GNT3, Gm73, LOC218476

MMRRC Submission

040778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R3837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97061197-97087414 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 97083522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 273 (R273*)

Ref Sequence

ENSEMBL: ENSMUSP00000130496 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171324]

AlphaFold

E9Q649

Predicted Effect

probably null
Transcript: ENSMUST00000171324
AA Change: R273*

SMART Domains

Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: R273*

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC
Pfam:Branch	134	403	1.1e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222094

Meta Mutation Damage Score

0.9701

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display neutrophilia, increased aggression towards males, reduced serum thyroxine levels, and altered O-glycan structures in the stomach, colon, and small intestine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
4930474N05Rik	G	A	14: 35,817,435 (GRCm39)	G112S	probably benign	Het
Adam24	T	C	8: 41,133,584 (GRCm39)	S351P	probably benign	Het
Amigo2	T	C	15: 97,143,196 (GRCm39)	I409V	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,542 (GRCm39)	W432R	probably damaging	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Col28a1	C	T	6: 8,014,601 (GRCm39)	V935M	possibly damaging	Het
Col6a3	T	C	1: 90,707,803 (GRCm39)	N1948D	unknown	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fn1	A	T	1: 71,692,314 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,228,608 (GRCm39)	T1708A	probably benign	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm11562	A	G	11: 99,511,026 (GRCm39)	I58T	possibly damaging	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Lamtor1	T	C	7: 101,559,315 (GRCm39)		probably null	Het
Lrrd1	A	T	5: 3,900,204 (GRCm39)	I170L	possibly damaging	Het
Magi2	G	A	5: 20,420,466 (GRCm39)	D301N	probably benign	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh3	C	A	13: 92,491,366 (GRCm39)	G15C	probably damaging	Het
Myl12b	C	A	17: 71,281,480 (GRCm39)	E120*	probably null	Het
Myo3a	T	G	2: 22,455,121 (GRCm39)		probably benign	Het
Nagk	A	T	6: 83,778,139 (GRCm39)	H245L	possibly damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,237,929 (GRCm39)		probably benign	Het
Ogfrl1	G	A	1: 23,409,041 (GRCm39)	T395I	probably benign	Het
Polr1b	T	A	2: 128,961,027 (GRCm39)	F662Y	possibly damaging	Het
Rrbp1	T	C	2: 143,831,478 (GRCm39)	K230E	probably damaging	Het
Shld2	A	G	14: 33,971,142 (GRCm39)	V581A	probably damaging	Het
Skap2	C	T	6: 51,886,279 (GRCm39)		probably null	Het
Skint5	A	T	4: 113,797,938 (GRCm39)	M215K	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdp1	A	G	12: 99,860,967 (GRCm39)		probably null	Het
Tlr3	G	A	8: 45,849,976 (GRCm39)	L898F	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn1r33	A	T	6: 66,588,701 (GRCm39)	D284E	possibly damaging	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Yme1l1	A	T	2: 23,081,092 (GRCm39)	T455S	possibly damaging	Het
Zfp111	T	C	7: 23,898,891 (GRCm39)	N241S	possibly damaging	Het

Other mutations in Gcnt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Gcnt4	APN	13	97,083,064 (GRCm39)	missense	probably damaging	1.00
IGL02677:Gcnt4	APN	13	97,083,741 (GRCm39)	missense	probably benign
IGL02936:Gcnt4	APN	13	97,082,919 (GRCm39)	missense	probably benign	0.00
R0332:Gcnt4	UTSW	13	97,083,018 (GRCm39)	missense	probably benign	0.01
R0741:Gcnt4	UTSW	13	97,082,940 (GRCm39)	nonsense	probably null
R0853:Gcnt4	UTSW	13	97,083,343 (GRCm39)	missense	probably damaging	1.00
R2156:Gcnt4	UTSW	13	97,082,974 (GRCm39)	missense	probably damaging	0.99
R3838:Gcnt4	UTSW	13	97,083,522 (GRCm39)	nonsense	probably null
R3839:Gcnt4	UTSW	13	97,083,522 (GRCm39)	nonsense	probably null
R4434:Gcnt4	UTSW	13	97,082,850 (GRCm39)	missense	probably benign	0.00
R4611:Gcnt4	UTSW	13	97,082,990 (GRCm39)	missense	probably benign
R4782:Gcnt4	UTSW	13	97,083,914 (GRCm39)	missense	possibly damaging	0.88
R5853:Gcnt4	UTSW	13	97,083,160 (GRCm39)	missense	probably benign	0.01
R6013:Gcnt4	UTSW	13	97,083,786 (GRCm39)	missense	possibly damaging	0.95
R6139:Gcnt4	UTSW	13	97,083,360 (GRCm39)	missense	probably benign	0.16
R6329:Gcnt4	UTSW	13	97,083,781 (GRCm39)	missense	probably damaging	1.00
R7131:Gcnt4	UTSW	13	97,083,027 (GRCm39)	missense	probably damaging	0.98
R7217:Gcnt4	UTSW	13	97,082,818 (GRCm39)	missense	probably damaging	0.98
R7497:Gcnt4	UTSW	13	97,083,468 (GRCm39)	missense	possibly damaging	0.52
R7509:Gcnt4	UTSW	13	97,083,678 (GRCm39)	missense	probably benign	0.28
R7592:Gcnt4	UTSW	13	97,083,669 (GRCm39)	missense	probably benign	0.02
R8673:Gcnt4	UTSW	13	97,082,997 (GRCm39)	missense	probably benign	0.24
R8907:Gcnt4	UTSW	13	97,083,844 (GRCm39)	missense	probably damaging	1.00
R9036:Gcnt4	UTSW	13	97,083,042 (GRCm39)	missense	probably benign
R9371:Gcnt4	UTSW	13	97,083,634 (GRCm39)	missense	possibly damaging	0.88
R9464:Gcnt4	UTSW	13	97,083,493 (GRCm39)	missense	probably benign	0.00
R9780:Gcnt4	UTSW	13	97,083,948 (GRCm39)	missense	probably benign	0.17
R9789:Gcnt4	UTSW	13	97,083,429 (GRCm39)	missense	probably benign	0.00
Z1177:Gcnt4	UTSW	13	97,082,961 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCAAGTCTTCCGTTCAGTGG -3'
(R):5'- CCTGGTATCCGGATTAAGGTG -3'

Sequencing Primer
(F):5'- GAAGTACGTCATCAACCTCTGTGG -3'
(R):5'- TTAAGGTGGCCCAAAAGTGCTC -3'

Posted On

2015-04-06