Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4472001:A4gnt'

555868

Institutional Source

Beutler Lab

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 #

PIT4472001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99494555-99504420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99502613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 258 (P258T)

Ref Sequence

ENSEMBL: ENSMUSP00000045629 (fasta)

Gene Model

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

AlphaFold

Q14BT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000042553
AA Change: P258T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: P258T

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

1x: 93.7%
3x: 90.8%
10x: 84.2%
20x: 70.1%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
Bcas3	A	G	11: 85,422,726 (GRCm39)	I532V	probably damaging	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cd300e	T	A	11: 114,945,336 (GRCm39)	I153F	possibly damaging	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cpvl	A	T	6: 53,873,464 (GRCm39)	F424Y	possibly damaging	Het
Cxcl16	C	T	11: 70,349,625 (GRCm39)	G80R	probably damaging	Het
Cyp2g1	T	C	7: 26,513,619 (GRCm39)	V186A	probably benign	Het
Cyp4f15	T	A	17: 32,921,798 (GRCm39)	M490K	probably damaging	Het
D630045J12Rik	A	T	6: 38,155,774 (GRCm39)	V1160D	probably damaging	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fgf5	T	A	5: 98,409,838 (GRCm39)	V129E	probably damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gcnt2	G	A	13: 41,071,413 (GRCm39)	V19M	probably benign	Het
Gga1	C	A	15: 78,777,836 (GRCm39)	A595D	probably damaging	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Gskip	C	T	12: 105,651,121 (GRCm39)		probably benign	Het
Ighv1-72	A	G	12: 115,721,620 (GRCm39)	V112A	probably damaging	Het
Krt16	T	A	11: 100,138,732 (GRCm39)	T185S	probably benign	Het
Lama1	T	C	17: 68,071,699 (GRCm39)	V862A		Het
Lats2	A	C	14: 57,936,814 (GRCm39)	Y558*	probably null	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mnx1	T	C	5: 29,679,105 (GRCm39)	E326G	unknown	Het
Mtmr10	A	G	7: 63,983,106 (GRCm39)	E471G	probably benign	Het
Or5p64	C	T	7: 107,855,310 (GRCm39)	V12M	possibly damaging	Het
Otog	G	A	7: 45,945,273 (GRCm39)	V2177M	probably damaging	Het
Ovgp1	A	G	3: 105,894,306 (GRCm39)	E693G	unknown	Het
Pclo	T	C	5: 14,763,182 (GRCm39)	M600T	possibly damaging	Het
Pdgfra	T	A	5: 75,340,907 (GRCm39)	M622K	probably damaging	Het
Pdxdc1	A	G	16: 13,663,209 (GRCm39)	L428P	probably damaging	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Podnl1	G	A	8: 84,854,477 (GRCm39)	V150M		Het
Pou4f3	A	G	18: 42,527,717 (GRCm39)	M4V	probably benign	Het
Ppp1r13b	G	A	12: 111,799,074 (GRCm39)	R864C	probably damaging	Het
R3hdm4	A	G	10: 79,749,389 (GRCm39)		probably null	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Sptb	G	A	12: 76,667,460 (GRCm39)	T879M	probably damaging	Het
Strip1	G	A	3: 107,535,486 (GRCm39)	A79V	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trim34a	T	A	7: 103,897,155 (GRCm39)	L73Q	probably damaging	Het
Trpv4	T	A	5: 114,764,984 (GRCm39)	T677S	probably damaging	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het

Other mutations in A4gnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:A4gnt	APN	9	99,502,489 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGTAACGGGGTATTTGGG -3'
(R):5'- TTCTGCACCTTGAATCAGAACCC -3'

Sequencing Primer
(F):5'- AACGGGGTATTTGGGTTCCTCC -3'
(R):5'- CCCTATAAGTCTTAGGACAGTGC -3'

Posted On

2019-06-07