Mutagenetix > Incidental Mutations

Incidental Mutation 'R5341:Gbgt1'

422308

Institutional Source

Beutler Lab

Gene Symbol

Gbgt1

Ensembl Gene

ENSMUSG00000026829

Gene Name

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Synonyms

MMRRC Submission

042920-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28496891-28505415 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28505007 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 219 (T219N)

Ref Sequence

ENSEMBL: ENSMUSP00000127071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028172] [ENSMUST00000074761] [ENSMUST00000163121]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028172
AA Change: T219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028172
Gene: ENSMUSG00000026829
AA Change: T219N

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

probably benign
Transcript: ENSMUST00000074761

SMART Domains

Protein: ENSMUSP00000082978
Gene: ENSMUSG00000063611

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127958

Predicted Effect

probably damaging
Transcript: ENSMUST00000163121
AA Change: T219N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127071
Gene: ENSMUSG00000026829
AA Change: T219N

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

Meta Mutation Damage Score

0.5785

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (64/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	C	19: 11,110,381		probably benign	Het
4931428F04Rik	A	T	8: 105,285,055	M226K	probably damaging	Het
Actr5	C	A	2: 158,625,224	S28*	probably null	Het
Adcy1	A	C	11: 7,130,375	M373L	probably damaging	Het
Adcyap1r1	C	G	6: 55,478,069	F111L	probably benign	Het
Arid5b	A	T	10: 68,278,127	F27I	possibly damaging	Het
Art5	C	A	7: 102,098,099	V158L	probably benign	Het
BC005561	A	T	5: 104,518,076	T155S	probably damaging	Het
Bora	T	A	14: 99,068,094	Y300N	probably damaging	Het
Btbd11	A	G	10: 85,387,372	D15G	unknown	Het
Ccdc84	A	G	9: 44,417,109		probably null	Het
Cd300a	A	G	11: 114,893,462	T99A	probably damaging	Het
Cdon	A	G	9: 35,470,135	Y607C	probably damaging	Het
Cpxm2	T	A	7: 132,154,613		probably benign	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGACCGGGAC	11: 101,738,190		probably benign	Het
Enox1	A	C	14: 77,577,656	T85P	possibly damaging	Het
Fanci	T	C	7: 79,406,178	L158P	probably damaging	Het
Gm5689	A	G	18: 42,173,431	D21G	possibly damaging	Het
Gm9513	A	T	9: 36,477,061	K61*	probably null	Het
Gulo	T	C	14: 65,988,258	D373G	probably benign	Het
Hivep2	C	A	10: 14,132,592	Q1645K	possibly damaging	Het
Iqce	A	C	5: 140,690,059	M114R	possibly damaging	Het
Lmbrd1	A	T	1: 24,746,811	K396*	probably null	Het
Lrrk2	A	T	15: 91,772,858	D1785V	probably damaging	Het
Mcmdc2	ATAAAAAAAAAGGAAAAATTACCTT	AT	1: 9,940,917		probably null	Het
Mepce	A	G	5: 137,783,260	V564A	probably damaging	Het
Mmp17	A	T	5: 129,602,129	D364V	possibly damaging	Het
Mrgpre	T	C	7: 143,781,509	N86D	probably benign	Het
Olfr1276	T	A	2: 111,257,637	I174K	probably damaging	Het
Olfr458	A	T	6: 42,460,164	L285Q	probably damaging	Het
Pax5	T	C	4: 44,697,630	D35G	probably damaging	Het
Pip5k1b	T	A	19: 24,304,076	T473S	probably benign	Het
Pkd2l2	A	G	18: 34,409,934		probably null	Het
Pygo2	C	A	3: 89,432,760	P155Q	probably damaging	Het
Rb1cc1	G	T	1: 6,215,042		probably benign	Het
Rbpj	A	G	5: 53,642,083	E80G	possibly damaging	Het
Sbno1	A	C	5: 124,408,475		probably null	Het
Slc1a1	T	A	19: 28,897,568	V182E	probably benign	Het
Slc34a3	A	T	2: 25,230,659	F419I	probably benign	Het
Snx8	A	G	5: 140,358,131	V62A	probably damaging	Het
Sp9	T	C	2: 73,274,514	S471P	possibly damaging	Het
Sspo	A	T	6: 48,459,615	S1270C	probably damaging	Het
Stk11	A	T	10: 80,126,260	T83S	probably benign	Het
Syt13	A	G	2: 92,953,552	E389G	probably benign	Het
Taf10	T	C	7: 105,740,932		probably benign	Het
Tgm1	A	T	14: 55,700,248	S801R	possibly damaging	Het
Timeless	T	C	10: 128,247,178	F628L	possibly damaging	Het
Tmem171	G	T	13: 98,688,448	P225T	probably damaging	Het
Tspan12	A	T	6: 21,835,459	C72S	possibly damaging	Het
Txk	T	C	5: 72,696,621	T458A	probably benign	Het
Txndc9	A	G	1: 37,987,623		probably benign	Het
Uap1	C	A	1: 170,143,431	C464F	probably damaging	Het
Ugt2b36	A	T	5: 87,092,228	Y99*	probably null	Het
Usp35	T	C	7: 97,325,927	Y13C	probably damaging	Het
Vmn1r6	T	G	6: 57,002,804	N128K	probably damaging	Het
Vmn2r106	T	A	17: 20,277,526	I484L	probably benign	Het
Wdr60	T	C	12: 116,255,914	E136G	possibly damaging	Het
Zdbf2	T	A	1: 63,307,933	S1824T	probably benign	Het
Zdhhc4	A	G	5: 143,326,160	V19A	probably benign	Het
Zfp955b	C	T	17: 33,305,121		probably benign	Het
Zfp97	T	A	17: 17,145,210	C324S	probably damaging	Het
Zswim8	G	A	14: 20,716,054	D803N	probably damaging	Het

Other mutations in Gbgt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Gbgt1	APN	2	28502195	critical splice acceptor site	probably null
IGL01586:Gbgt1	APN	2	28497830	missense	probably benign	0.00
R0031:Gbgt1	UTSW	2	28498450	splice site	probably benign
R0693:Gbgt1	UTSW	2	28504830	missense	probably damaging	0.99
R1623:Gbgt1	UTSW	2	28504976	missense	probably benign	0.38
R1739:Gbgt1	UTSW	2	28505052	missense	possibly damaging	0.55
R2221:Gbgt1	UTSW	2	28498423	missense	probably damaging	1.00
R4418:Gbgt1	UTSW	2	28498408	missense	probably damaging	1.00
R4674:Gbgt1	UTSW	2	28498441	missense	possibly damaging	0.87
R4675:Gbgt1	UTSW	2	28498441	missense	possibly damaging	0.87
R4926:Gbgt1	UTSW	2	28503170	missense	probably damaging	0.99
R5254:Gbgt1	UTSW	2	28505208	missense	probably damaging	1.00
R5399:Gbgt1	UTSW	2	28503218	missense	probably damaging	1.00
R6562:Gbgt1	UTSW	2	28504886	missense	probably damaging	0.99
R6658:Gbgt1	UTSW	2	28504986	missense	probably benign	0.00
R6830:Gbgt1	UTSW	2	28505208	missense	probably damaging	1.00
R7466:Gbgt1	UTSW	2	28502207	missense	probably damaging	0.96
R7636:Gbgt1	UTSW	2	28505314	missense	probably damaging	1.00
R7839:Gbgt1	UTSW	2	28503170	missense	probably damaging	0.99
Z1177:Gbgt1	UTSW	2	28505188	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGATCCTACAGCCGTTCCCAG -3'
(R):5'- AGCTTTGTCTGCCAGAATGG -3'

Sequencing Primer
(F):5'- ACAGCCGTTCCCAGAGTTC -3'
(R):5'- GCAGGCCCGGGTAAACTC -3'

Posted On

2016-08-04