Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00979:A4gnt'

28263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A4gnt

Ensembl Gene

ENSMUSG00000037953

Gene Name

alpha-1,4-N-acetylglucosaminyltransferase

Synonyms

alpha4GnT, LOC333424

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL00979

Quality Score

Status

Chromosome

Chromosomal Location

99494555-99504420 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 99502489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 216 (Y216*)

Ref Sequence

ENSEMBL: ENSMUSP00000045629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042553]

AlphaFold

Q14BT6

Predicted Effect

probably null
Transcript: ENSMUST00000042553
AA Change: Y216*

SMART Domains

Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: Y216*

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:Gly_transf_sug	65	188	4e-26	PFAM
Pfam:Gb3_synth	197	324	2.5e-49	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein from the glycosyltransferase 32 family. The encoded enzyme catalyzes the transfer of N-acetylglucosamine to alpha-1,4-linked beta-galactose residues. This enzyme is required for type III mucin synthesis and it is largely associated with the Golgi apparatus membrane. The encoded protein appears to be expressed in adenocarcinoma cells of pancreatic, biliary tract and gastric cancers.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit gastric adenocarcinoma with increased cell proliferation, angiogenesis, inflammation and gastric mucosal thickness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,338 (GRCm39)	K84M	probably damaging	Het
Abcb1b	A	G	5: 8,875,293 (GRCm39)		probably benign	Het
Ankrd50	G	A	3: 38,506,563 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,381,584 (GRCm39)	T89A	probably benign	Het
Ccdc15	C	T	9: 37,227,786 (GRCm39)	S236N	probably benign	Het
Cd34	A	C	1: 194,631,816 (GRCm39)	T151P	possibly damaging	Het
Col28a1	A	T	6: 8,014,810 (GRCm39)	V865E	probably damaging	Het
Csf2rb	T	A	15: 78,232,304 (GRCm39)	V537E	probably damaging	Het
Cux2	A	G	5: 122,011,777 (GRCm39)	F553L	probably damaging	Het
Dolk	A	T	2: 30,174,743 (GRCm39)	L434Q	probably damaging	Het
Dsg2	C	A	18: 20,715,824 (GRCm39)	D255E	probably damaging	Het
Endov	T	C	11: 119,391,444 (GRCm39)	V144A	probably damaging	Het
Grik2	T	C	10: 49,232,034 (GRCm39)	N499D	probably damaging	Het
Hephl1	G	T	9: 14,978,341 (GRCm39)	T855K	probably benign	Het
Hif1a	A	G	12: 73,988,784 (GRCm39)	D557G	probably damaging	Het
Idh1	G	A	1: 65,210,308 (GRCm39)	T75I	probably damaging	Het
Ighv1-37	A	G	12: 114,860,070 (GRCm39)	S47P	probably benign	Het
Irx4	A	G	13: 73,416,341 (GRCm39)		probably benign	Het
Itpr1	C	T	6: 108,448,081 (GRCm39)	A1871V	probably damaging	Het
Klkb1	A	G	8: 45,747,105 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,080 (GRCm39)	L435P	probably damaging	Het
Megf11	T	A	9: 64,416,009 (GRCm39)	Y73N	probably damaging	Het
Nfe2	T	C	15: 103,157,607 (GRCm39)	D128G	probably damaging	Het
Or13a22	A	G	7: 140,072,614 (GRCm39)	E21G	probably benign	Het
Or4k51	T	A	2: 111,584,771 (GRCm39)	M59K	probably damaging	Het
Pak6	C	A	2: 118,526,963 (GRCm39)	L653I	probably damaging	Het
Pde4dip	T	A	3: 97,655,074 (GRCm39)		probably benign	Het
Pds5a	A	G	5: 65,789,066 (GRCm39)	V831A	probably benign	Het
Prc1	G	T	7: 79,957,444 (GRCm39)		probably null	Het
Ptprs	C	T	17: 56,765,243 (GRCm39)	G14S	probably damaging	Het
Pygb	A	G	2: 150,661,833 (GRCm39)	K520E	probably benign	Het
Rimbp2	A	G	5: 128,883,505 (GRCm39)	S92P	probably benign	Het
Samd4b	A	T	7: 28,113,638 (GRCm39)	L109Q	probably damaging	Het
Saxo4	T	C	19: 10,451,863 (GRCm39)	*428W	probably null	Het
Scn8a	A	T	15: 100,853,287 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,545,991 (GRCm39)	I23V	unknown	Het
Sec61a2	A	G	2: 5,876,831 (GRCm39)	Y350H	possibly damaging	Het
Slc4a3	A	T	1: 75,530,891 (GRCm39)	Q759L	probably damaging	Het
Speg	C	T	1: 75,387,378 (GRCm39)	P1378L	probably damaging	Het
Spta1	T	G	1: 174,035,956 (GRCm39)	Y1087*	probably null	Het
Tenm4	A	G	7: 96,378,598 (GRCm39)	E401G	probably damaging	Het
Tom1	C	A	8: 75,781,331 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,257,577 (GRCm39)	V1273D	probably damaging	Het
Vmn2r106	G	T	17: 20,497,837 (GRCm39)	D467E	possibly damaging	Het
Washc4	A	T	10: 83,386,747 (GRCm39)	T124S	probably benign	Het
Zfp790	A	G	7: 29,529,034 (GRCm39)	E573G	probably benign	Het

Other mutations in A4gnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:A4gnt	APN	9	99,495,819 (GRCm39)	missense	probably benign	0.01
IGL02335:A4gnt	APN	9	99,502,266 (GRCm39)	missense	probably benign
IGL03339:A4gnt	APN	9	99,502,601 (GRCm39)	missense	probably damaging	1.00
PIT4466001:A4gnt	UTSW	9	99,502,613 (GRCm39)	missense	probably damaging	0.99
PIT4472001:A4gnt	UTSW	9	99,502,613 (GRCm39)	missense	probably damaging	0.99
R2027:A4gnt	UTSW	9	99,502,254 (GRCm39)	missense	possibly damaging	0.50
R2061:A4gnt	UTSW	9	99,502,412 (GRCm39)	missense	probably damaging	1.00
R4130:A4gnt	UTSW	9	99,502,671 (GRCm39)	missense	possibly damaging	0.81
R4131:A4gnt	UTSW	9	99,502,671 (GRCm39)	missense	possibly damaging	0.81
R5249:A4gnt	UTSW	9	99,502,284 (GRCm39)	missense	probably damaging	0.99
R5338:A4gnt	UTSW	9	99,502,597 (GRCm39)	missense	probably damaging	1.00
R5672:A4gnt	UTSW	9	99,502,383 (GRCm39)	missense	possibly damaging	0.95
R5785:A4gnt	UTSW	9	99,502,725 (GRCm39)	missense	probably damaging	1.00
R6519:A4gnt	UTSW	9	99,495,723 (GRCm39)	missense	probably damaging	1.00
R6630:A4gnt	UTSW	9	99,495,971 (GRCm39)	missense	probably benign	0.00
R7296:A4gnt	UTSW	9	99,502,335 (GRCm39)	missense	probably damaging	0.97
R7514:A4gnt	UTSW	9	99,502,598 (GRCm39)	missense	probably benign	0.05
R7731:A4gnt	UTSW	9	99,502,470 (GRCm39)	missense	possibly damaging	0.63
R9311:A4gnt	UTSW	9	99,495,816 (GRCm39)	missense	possibly damaging	0.82
R9786:A4gnt	UTSW	9	99,502,536 (GRCm39)	missense	possibly damaging	0.65
Z1088:A4gnt	UTSW	9	99,495,894 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-04-17