Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:A4gnt'

289688

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: 0.118) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

99612502-99622367 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99620213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 142 (T142I)

Ref Sequence

ENSEMBL: ENSMUSP00000045629 (fasta)

Gene Model

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

AlphaFold

Q14BT6

Predicted Effect

probably benign
Transcript: ENSMUST00000042553
AA Change: T142I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045629
Gene: ENSMUSG00000037953
AA Change: T142I

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	T	7: 140,296,540 (GRCm38)	N526Y	probably damaging	Het
Acaca	A	G	11: 84,214,258 (GRCm38)	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750 (GRCm38)	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638 (GRCm38)	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929 (GRCm38)	T94A	possibly damaging	Het
Cd22	A	G	7: 30,876,134 (GRCm38)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847 (GRCm38)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm38)	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769 (GRCm38)		probably benign	Het
Col6a6	C	T	9: 105,784,101 (GRCm38)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077 (GRCm38)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845 (GRCm38)	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834 (GRCm38)		probably null	Het
Dctn2	T	C	10: 127,275,821 (GRCm38)		probably benign	Het
Dnm1l	A	G	16: 16,342,740 (GRCm38)		probably benign	Het
Dpp4	T	C	2: 62,334,644 (GRCm38)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309 (GRCm38)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390 (GRCm38)	W181*	probably null	Het
G2e3	T	A	12: 51,369,158 (GRCm38)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595 (GRCm38)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763 (GRCm38)	I572M	probably benign	Het
Gm5538	G	A	3: 59,743,605 (GRCm38)	M49I	probably benign	Het
Gpatch2l	T	A	12: 86,256,937 (GRCm38)		probably benign	Het
Kcnq4	A	G	4: 120,715,854 (GRCm38)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216 (GRCm38)	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081 (GRCm38)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147 (GRCm38)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782 (GRCm38)	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636 (GRCm38)		probably null	Het
Olfr1442	T	C	19: 12,674,238 (GRCm38)	I11T	probably damaging	Het
Olfr1494	A	G	19: 13,749,934 (GRCm38)	D276G	probably benign	Het
Olfr96	A	G	17: 37,225,326 (GRCm38)	N67S	probably damaging	Het
Pls1	A	T	9: 95,784,183 (GRCm38)	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512 (GRCm38)	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117 (GRCm38)		probably null	Het
Rrp7a	T	C	15: 83,122,691 (GRCm38)	E15G	probably benign	Het
Scn1a	T	A	2: 66,277,661 (GRCm38)	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,526,215 (GRCm38)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093 (GRCm38)		probably null	Het
Tbxas1	A	G	6: 39,023,080 (GRCm38)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523 (GRCm38)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092 (GRCm38)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543 (GRCm38)	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437 (GRCm38)	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267 (GRCm38)	L34Q	probably damaging	Het

Other mutations in A4gnt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:A4gnt	APN	9	99,620,436 (GRCm38)	nonsense	probably null
IGL01509:A4gnt	APN	9	99,613,766 (GRCm38)	missense	probably benign	0.01
IGL03339:A4gnt	APN	9	99,620,548 (GRCm38)	missense	probably damaging	1.00
PIT4466001:A4gnt	UTSW	9	99,620,560 (GRCm38)	missense	probably damaging	0.99
PIT4472001:A4gnt	UTSW	9	99,620,560 (GRCm38)	missense	probably damaging	0.99
R2027:A4gnt	UTSW	9	99,620,201 (GRCm38)	missense	possibly damaging	0.50
R2061:A4gnt	UTSW	9	99,620,359 (GRCm38)	missense	probably damaging	1.00
R4130:A4gnt	UTSW	9	99,620,618 (GRCm38)	missense	possibly damaging	0.81
R4131:A4gnt	UTSW	9	99,620,618 (GRCm38)	missense	possibly damaging	0.81
R5249:A4gnt	UTSW	9	99,620,231 (GRCm38)	missense	probably damaging	0.99
R5338:A4gnt	UTSW	9	99,620,544 (GRCm38)	missense	probably damaging	1.00
R5672:A4gnt	UTSW	9	99,620,330 (GRCm38)	missense	possibly damaging	0.95
R5785:A4gnt	UTSW	9	99,620,672 (GRCm38)	missense	probably damaging	1.00
R6519:A4gnt	UTSW	9	99,613,670 (GRCm38)	missense	probably damaging	1.00
R6630:A4gnt	UTSW	9	99,613,918 (GRCm38)	missense	probably benign	0.00
R7296:A4gnt	UTSW	9	99,620,282 (GRCm38)	missense	probably damaging	0.97
R7514:A4gnt	UTSW	9	99,620,545 (GRCm38)	missense	probably benign	0.05
R7731:A4gnt	UTSW	9	99,620,417 (GRCm38)	missense	possibly damaging	0.63
R9311:A4gnt	UTSW	9	99,613,763 (GRCm38)	missense	possibly damaging	0.82
R9786:A4gnt	UTSW	9	99,620,483 (GRCm38)	missense	possibly damaging	0.65
Z1088:A4gnt	UTSW	9	99,613,841 (GRCm38)	missense	probably damaging	0.97

Posted On

2015-04-16