Mutagenetix > Incidental Mutation

Incidental Mutation 'R6013:Gcnt4'

479869

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

044189-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R6013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97061197-97087414 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97083786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 361 (S361P)

Ref Sequence

ENSEMBL: ENSMUSP00000130496 (fasta)

Gene Model

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

AlphaFold

E9Q649

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171324
AA Change: S361P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: S361P

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

0.0856

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	T	3: 6,682,310 (GRCm39)		probably null	Het
Aanat	A	T	11: 116,486,950 (GRCm39)		probably null	Het
Abca17	A	T	17: 24,506,820 (GRCm39)	V1178E	possibly damaging	Het
Abcf3	T	A	16: 20,369,311 (GRCm39)		probably null	Het
Alk	A	G	17: 72,207,732 (GRCm39)	M1001T	probably benign	Het
Arhgap23	C	A	11: 97,391,818 (GRCm39)	S1445Y	probably damaging	Het
Atp10a	T	C	7: 58,447,538 (GRCm39)	I760T	probably benign	Het
Cadm1	C	T	9: 47,768,572 (GRCm39)		probably benign	Het
Car10	A	T	11: 93,076,105 (GRCm39)		probably benign	Het
Casq2	G	T	3: 102,052,945 (GRCm39)		probably null	Het
Cemip2	G	A	19: 21,809,403 (GRCm39)	V928I	possibly damaging	Het
Clec4f	T	C	6: 83,632,070 (GRCm39)	I55V	probably benign	Het
Cngb1	T	C	8: 96,010,949 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,972,098 (GRCm39)		probably null	Het
Cyp2c39	A	C	19: 39,501,969 (GRCm39)	R119S	probably benign	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Ddx43	T	C	9: 78,321,567 (GRCm39)	L412S	probably damaging	Het
Dnajb12	G	A	10: 59,730,163 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,347,691 (GRCm39)	S56P	probably benign	Het
Fam83h	A	G	15: 75,875,849 (GRCm39)	F496S	probably damaging	Het
H2-T23	G	T	17: 36,341,474 (GRCm39)	H332Q	probably benign	Het
Hrob	T	C	11: 102,145,859 (GRCm39)	V45A	probably benign	Het
Ift57	G	T	16: 49,519,667 (GRCm39)		probably null	Het
Il1rl2	A	G	1: 40,391,017 (GRCm39)	H320R	possibly damaging	Het
Kansl1	A	G	11: 104,241,465 (GRCm39)	V618A	probably benign	Het
Kctd3	T	C	1: 188,728,665 (GRCm39)	E157G	probably benign	Het
Magohb	T	A	6: 131,270,037 (GRCm39)	D31V	possibly damaging	Het
Mdn1	C	A	4: 32,715,713 (GRCm39)	F1993L	probably damaging	Het
Med29	C	A	7: 28,086,418 (GRCm39)	C130F	probably benign	Het
Mtmr7	G	A	8: 41,034,570 (GRCm39)	R251C	probably damaging	Het
Ncor1	T	C	11: 62,211,903 (GRCm39)	I49V	probably benign	Het
Nfkb1	G	T	3: 135,332,445 (GRCm39)	T109K	possibly damaging	Het
Pkd1l1	A	G	11: 8,819,452 (GRCm39)		probably null	Het
Pkp1	T	A	1: 135,811,648 (GRCm39)	T408S	probably damaging	Het
Plec	A	T	15: 76,073,510 (GRCm39)	D501E	possibly damaging	Het
Prcp	A	C	7: 92,576,976 (GRCm39)	Y335S	possibly damaging	Het
Reg2	T	A	6: 78,384,952 (GRCm39)	Y165N	possibly damaging	Het
Rnf7	T	C	9: 96,353,787 (GRCm39)	*114W	probably null	Het
Scg3	T	C	9: 75,584,090 (GRCm39)	D137G	probably damaging	Het
Serpinb7	T	C	1: 107,377,919 (GRCm39)	V204A	probably benign	Het
Sez6	C	T	11: 77,864,623 (GRCm39)	H528Y	probably damaging	Het
Sf3b1	A	T	1: 55,039,457 (GRCm39)	S723T	probably damaging	Het
Shtn1	T	C	19: 58,963,533 (GRCm39)	D594G	probably damaging	Het
Sptbn4	A	G	7: 27,063,904 (GRCm39)	L2174P	probably damaging	Het
Stk25	A	G	1: 93,553,181 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,098,505 (GRCm39)	F429I	probably damaging	Het
Thada	T	A	17: 84,580,228 (GRCm39)	I1409F	probably benign	Het
Usp25	G	A	16: 76,873,909 (GRCm39)	G495E	probably benign	Het
Washc2	A	G	6: 116,231,114 (GRCm39)	S844G	probably damaging	Het
Xirp2	A	T	2: 67,341,287 (GRCm39)	H1176L	possibly damaging	Het
Ypel1	T	C	16: 16,918,129 (GRCm39)	N96D	probably damaging	Het
Zfand6	C	A	7: 84,281,900 (GRCm39)	V110L	probably benign	Het
Zfp30	A	G	7: 29,488,846 (GRCm39)	R8G	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
R3837:Gcnt4	UTSW	13	97,083,522 (GRCm39)	nonsense	probably null
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
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'- GCTACCAGTAAAGACGAACGTC -3'
(R):5'- CCAGACATTTCATCAAGATGGGG -3'

Sequencing Primer
(F):5'- CCTCATAACATTCAGGTATTTGTGGG -3'
(R):5'- GACATTTCATCAAGATGGGGTCAAC -3'

Posted On

2017-06-26