Mutagenetix > Incidental Mutation

Incidental Mutation 'R0031:Gbgt1'

18652

Institutional Source

Beutler Lab

Gene Symbol

Gbgt1

Ensembl Gene

ENSMUSG00000026829

Gene Name

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Synonyms

MMRRC Submission

038325-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28386903-28395427 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 28388462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000163121]

AlphaFold

Q8VI38

Predicted Effect

probably benign
Transcript: ENSMUST00000028172

SMART Domains

Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829

Domain	Start	End	E-Value	Type
transmembrane domain	7	24	N/A	INTRINSIC
Pfam:Glyco_transf_6	33	347	1.6e-154	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127958

Predicted Effect

probably benign
Transcript: ENSMUST00000163121

SMART Domains

Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	11	347	1.9e-152	PFAM

Coding Region Coverage

1x: 81.0%
3x: 73.5%
10x: 52.2%
20x: 32.1%

Validation Efficiency

93% (95/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	G	A	2: 69,115,652 (GRCm39)	R571C	probably damaging	Het
Agr3	T	C	12: 35,997,590 (GRCm39)	M100T	probably benign	Het
Ankrd7	T	A	6: 18,870,007 (GRCm39)	Y253*	probably null	Het
Atp2c2	A	T	8: 120,475,801 (GRCm39)	T565S	probably benign	Het
Ccdc88b	G	T	19: 6,831,151 (GRCm39)	S597Y	possibly damaging	Het
Celsr2	T	C	3: 108,320,379 (GRCm39)	N811S	probably damaging	Het
Cep170	A	T	1: 176,583,657 (GRCm39)	D907E	probably damaging	Het
Cip2a	C	T	16: 48,837,736 (GRCm39)	S812F	probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cmss1	T	G	16: 57,131,612 (GRCm39)		probably null	Het
Cobl	T	C	11: 12,204,945 (GRCm39)	T579A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Csrp2	C	T	10: 110,774,601 (GRCm39)	S172L	probably benign	Het
Fip1l1	T	C	5: 74,717,770 (GRCm39)	S235P	probably damaging	Het
Gml2	T	C	15: 74,696,125 (GRCm39)	I173T	probably benign	Het
Gucy2c	T	A	6: 136,674,997 (GRCm39)	I1005F	probably damaging	Het
Irak3	T	A	10: 120,012,225 (GRCm39)	K88*	probably null	Het
Klc1	T	C	12: 111,743,467 (GRCm39)	Y265H	probably damaging	Het
Lamb1	G	A	12: 31,351,155 (GRCm39)	V754I	probably benign	Het
Lrguk	A	T	6: 34,020,431 (GRCm39)	Q58H	probably damaging	Het
Lyst	A	G	13: 13,882,741 (GRCm39)	D2902G	probably benign	Het
Mtpap	T	A	18: 4,383,244 (GRCm39)	I207N	probably damaging	Het
Ncdn	A	T	4: 126,643,901 (GRCm39)		probably null	Het
Nup160	A	G	2: 90,547,931 (GRCm39)		probably null	Het
Ormdl1	A	G	1: 53,338,318 (GRCm39)		probably benign	Het
Pde5a	A	G	3: 122,596,704 (GRCm39)	M432V	probably benign	Het
Pikfyve	T	A	1: 65,255,088 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,545,942 (GRCm39)	V581A	probably benign	Het
Plpp6	T	A	19: 28,942,243 (GRCm39)	N281K	probably benign	Het
Pwp1	T	C	10: 85,721,760 (GRCm39)	I422T	probably benign	Het
Rims1	T	C	1: 22,367,103 (GRCm39)	N1199S	probably damaging	Het
Sema3c	T	C	5: 17,899,726 (GRCm39)	L406P	probably damaging	Het
Senp6	C	T	9: 80,033,525 (GRCm39)	P84L	probably damaging	Het
Setx	A	G	2: 29,066,941 (GRCm39)	I2361V	probably benign	Het
Slc25a12	C	T	2: 71,163,958 (GRCm39)	V106M	possibly damaging	Het
Slc3a1	A	G	17: 85,340,274 (GRCm39)	Y232C	probably damaging	Het
Spata31g1	A	T	4: 42,973,712 (GRCm39)	K1015M	probably damaging	Het
Taf1c	A	T	8: 120,325,829 (GRCm39)	C678S	probably benign	Het
Tcp11l2	G	T	10: 84,427,004 (GRCm39)	C156F	probably damaging	Het
Tmem62	A	G	2: 120,829,594 (GRCm39)	T316A	probably benign	Het
Ulk4	A	G	9: 121,102,048 (GRCm39)	I10T	probably damaging	Het
Vps54	T	C	11: 21,262,899 (GRCm39)	I824T	probably damaging	Het
Wdfy3	A	T	5: 102,037,161 (GRCm39)	V2042E	probably damaging	Het
Wfdc6b	A	T	2: 164,455,779 (GRCm39)	E36V	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het

Other mutations in Gbgt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Gbgt1	APN	2	28,392,207 (GRCm39)	critical splice acceptor site	probably null
IGL01586:Gbgt1	APN	2	28,387,842 (GRCm39)	missense	probably benign	0.00
R0693:Gbgt1	UTSW	2	28,394,842 (GRCm39)	missense	probably damaging	0.99
R1623:Gbgt1	UTSW	2	28,394,988 (GRCm39)	missense	probably benign	0.38
R1739:Gbgt1	UTSW	2	28,395,064 (GRCm39)	missense	possibly damaging	0.55
R2221:Gbgt1	UTSW	2	28,388,435 (GRCm39)	missense	probably damaging	1.00
R4418:Gbgt1	UTSW	2	28,388,420 (GRCm39)	missense	probably damaging	1.00
R4674:Gbgt1	UTSW	2	28,388,453 (GRCm39)	missense	possibly damaging	0.87
R4675:Gbgt1	UTSW	2	28,388,453 (GRCm39)	missense	possibly damaging	0.87
R4926:Gbgt1	UTSW	2	28,393,182 (GRCm39)	missense	probably damaging	0.99
R5254:Gbgt1	UTSW	2	28,395,220 (GRCm39)	missense	probably damaging	1.00
R5341:Gbgt1	UTSW	2	28,395,019 (GRCm39)	missense	probably damaging	1.00
R5399:Gbgt1	UTSW	2	28,393,230 (GRCm39)	missense	probably damaging	1.00
R6562:Gbgt1	UTSW	2	28,394,898 (GRCm39)	missense	probably damaging	0.99
R6658:Gbgt1	UTSW	2	28,394,998 (GRCm39)	missense	probably benign	0.00
R6830:Gbgt1	UTSW	2	28,395,220 (GRCm39)	missense	probably damaging	1.00
R7466:Gbgt1	UTSW	2	28,392,219 (GRCm39)	missense	probably damaging	0.96
R7636:Gbgt1	UTSW	2	28,395,326 (GRCm39)	missense	probably damaging	1.00
R7839:Gbgt1	UTSW	2	28,393,182 (GRCm39)	missense	probably damaging	0.99
R9803:Gbgt1	UTSW	2	28,394,866 (GRCm39)	missense	probably damaging	1.00
Z1177:Gbgt1	UTSW	2	28,395,200 (GRCm39)	nonsense	probably null

Posted On

2013-03-25