Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:A3galt2'

361233

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A3galt2

Ensembl Gene

ENSMUSG00000028794

Gene Name

alpha 1,3-galactosyltransferase 2

Synonyms

iGb3, LOC215493

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

128653051-128663091 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 128655302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030585] [ENSMUST00000106077]

AlphaFold

Q3V1N9

Predicted Effect

probably benign
Transcript: ENSMUST00000030585

SMART Domains

Protein: ENSMUSP00000030585
Gene: ENSMUSG00000028794

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
Pfam:Glyco_transf_6	80	370	4.8e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106077

SMART Domains

Protein: ENSMUSP00000101687
Gene: ENSMUSG00000028794

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_6	49	339	1.4e-114	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable alterations in the development and function of invariant natural killer T cells. [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
Alk	C	T	17: 72,176,531 (GRCm39)	G1591D	probably damaging	Het
Angptl2	T	C	2: 33,118,327 (GRCm39)	S34P	probably benign	Het
Atp2a2	A	G	5: 122,627,354 (GRCm39)	V137A	probably benign	Het
Atp8b5	A	G	4: 43,366,770 (GRCm39)	M845V	probably damaging	Het
Camk1d	A	G	2: 5,570,571 (GRCm39)	V30A	possibly damaging	Het
Ceacam19	G	A	7: 19,616,535 (GRCm39)	T193I	probably benign	Het
Cfap298	A	C	16: 90,722,950 (GRCm39)	D261E	probably benign	Het
Chst15	T	A	7: 131,868,475 (GRCm39)	D315V	probably damaging	Het
Cux1	G	T	5: 136,336,857 (GRCm39)	P885Q	probably damaging	Het
Cyth1	C	T	11: 118,076,307 (GRCm39)	E88K	possibly damaging	Het
Dido1	A	G	2: 180,325,751 (GRCm39)	V479A	probably benign	Het
Dlc1	G	T	8: 37,037,429 (GRCm39)		probably benign	Het
H2-Ab1	G	A	17: 34,483,885 (GRCm39)	R82Q	probably damaging	Het
Hps6	T	A	19: 45,994,480 (GRCm39)	*806K	probably null	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Kdm1b	C	A	13: 47,233,943 (GRCm39)	T759K	probably damaging	Het
Kirrel1	C	A	3: 86,995,792 (GRCm39)	V381F	probably damaging	Het
Kmt2b	A	T	7: 30,276,569 (GRCm39)	V1701E	probably damaging	Het
Lrmda	T	C	14: 22,878,805 (GRCm39)	Y100H	probably damaging	Het
Mastl	T	C	2: 23,035,421 (GRCm39)	I169V	probably damaging	Het
Mroh2b	A	G	15: 4,991,630 (GRCm39)	E1576G	probably damaging	Het
Nek3	A	T	8: 22,650,384 (GRCm39)		probably null	Het
Nipal3	G	T	4: 135,195,861 (GRCm39)	Y247*	probably null	Het
Nt5e	A	C	9: 88,237,758 (GRCm39)	K229N	probably damaging	Het
Opa1	A	G	16: 29,429,705 (GRCm39)	M290V	probably null	Het
Or2a14	A	G	6: 43,130,511 (GRCm39)	I91V	possibly damaging	Het
Or8d6	G	T	9: 39,854,254 (GRCm39)	G233C	probably damaging	Het
Parp2	T	A	14: 51,052,872 (GRCm39)	I155K	probably benign	Het
Pde4dip	G	T	3: 97,674,403 (GRCm39)	A171E	probably damaging	Het
Prom2	C	T	2: 127,373,036 (GRCm39)	E678K	probably benign	Het
Rab12	A	G	17: 66,805,111 (GRCm39)		probably benign	Het
Rgs8	A	T	1: 153,546,545 (GRCm39)	T13S	probably damaging	Het
Setd3	A	G	12: 108,078,383 (GRCm39)		probably benign	Het
Shisal1	A	G	15: 84,304,330 (GRCm39)		probably benign	Het
Slx4ip	G	A	2: 136,846,893 (GRCm39)	V53I	probably damaging	Het
Stil	A	G	4: 114,881,295 (GRCm39)	D613G	probably benign	Het
Tektip1	A	G	10: 81,200,570 (GRCm39)		probably benign	Het
Tjp3	T	A	10: 81,109,523 (GRCm39)	S858C	probably damaging	Het
Tmem215	A	G	4: 40,474,632 (GRCm39)	*236W	probably null	Het
Ttbk1	A	G	17: 46,781,586 (GRCm39)	V389A	probably benign	Het
Wdfy4	A	G	14: 32,693,707 (GRCm39)	F2706S	possibly damaging	Het
Xpo4	C	A	14: 57,866,877 (GRCm39)	V222L	possibly damaging	Het
Zfc3h1	A	G	10: 115,236,809 (GRCm39)	S428G	probably benign	Het
Zfp286	T	C	11: 62,678,786 (GRCm39)	Q47R	probably damaging	Het
Zfp318	A	G	17: 46,709,680 (GRCm39)	K468E	probably damaging	Het

Other mutations in A3galt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:A3galt2	APN	4	128,655,851 (GRCm39)	missense	probably damaging	1.00
IGL02691:A3galt2	APN	4	128,655,457 (GRCm39)	missense	probably benign	0.01
IGL02839:A3galt2	APN	4	128,653,816 (GRCm39)	critical splice donor site	probably null
R0234:A3galt2	UTSW	4	128,660,941 (GRCm39)	missense	possibly damaging	0.59
R0234:A3galt2	UTSW	4	128,660,941 (GRCm39)	missense	possibly damaging	0.59
R0970:A3galt2	UTSW	4	128,661,364 (GRCm39)	missense	probably damaging	1.00
R1807:A3galt2	UTSW	4	128,661,394 (GRCm39)	missense	probably benign	0.00
R3498:A3galt2	UTSW	4	128,649,350 (GRCm39)	missense	probably benign
R3799:A3galt2	UTSW	4	128,660,863 (GRCm39)	missense	probably damaging	1.00
R3891:A3galt2	UTSW	4	128,655,847 (GRCm39)	missense	probably damaging	1.00
R4810:A3galt2	UTSW	4	128,649,356 (GRCm39)	critical splice donor site	probably null
R5133:A3galt2	UTSW	4	128,655,934 (GRCm39)	missense	probably damaging	1.00
R6540:A3galt2	UTSW	4	128,660,779 (GRCm39)	missense	possibly damaging	0.78
R8323:A3galt2	UTSW	4	128,649,351 (GRCm39)	missense	probably benign
R8989:A3galt2	UTSW	4	128,655,231 (GRCm39)	missense	probably damaging	1.00
R9384:A3galt2	UTSW	4	128,655,851 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18