Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03355:B3gnt5'

419889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B3gnt5

Ensembl Gene

ENSMUSG00000022686

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.438) question?

Stock #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

19760208-19772753 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19769153 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 41 (M41L)

Ref Sequence

ENSEMBL: ENSMUSP00000126157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079780] [ENSMUST00000119468] [ENSMUST00000121344] [ENSMUST00000164397]

Predicted Effect

probably benign
Transcript: ENSMUST00000079780
AA Change: M41L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000078712
Gene: ENSMUSG00000022686
AA Change: M41L

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119468
AA Change: M41L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113145
Gene: ENSMUSG00000022686
AA Change: M41L

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121344
AA Change: M41L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000112624
Gene: ENSMUSG00000022686
AA Change: M41L

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155780

Predicted Effect

probably benign
Transcript: ENSMUST00000164397
AA Change: M41L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126157
Gene: ENSMUSG00000022686
AA Change: M41L

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Galactosyl_T	100	299	2e-49	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice may show variable types of lethality or no lethality depending on the allele. Mice homozygous for 3 alleles show B cell abnormalities. Mice homozygous or heterozygous for 2 allele show reduced fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610002M06Rik	C	A	X: 107,788,283	V180F	possibly damaging	Het
Actrt1	T	C	X: 46,329,747	V213A	probably benign	Het
Adam28	A	T	14: 68,634,803		probably benign	Het
Apeh	T	C	9: 108,086,445	H557R	probably benign	Het
Atmin	T	A	8: 116,957,425	L608*	probably null	Het
Best3	T	C	10: 116,993,105	F97L	possibly damaging	Het
Col7a1	G	A	9: 108,978,160	V2486M	unknown	Het
Crym	T	C	7: 120,199,313		probably null	Het
Cubn	T	C	2: 13,478,057		probably null	Het
Dnah7b	A	G	1: 46,119,304	D349G	probably benign	Het
Eea1	T	C	10: 96,042,212		probably benign	Het
Emc1	C	T	4: 139,371,593		probably benign	Het
Eps8	T	C	6: 137,512,145		probably benign	Het
Ereg	A	G	5: 91,088,581		probably benign	Het
Faah	G	A	4: 116,002,528	P369S	probably benign	Het
Fam135a	A	T	1: 24,029,168	N703K	possibly damaging	Het
Frmpd1	T	C	4: 45,279,140	S622P	probably damaging	Het
Gm10030	A	G	9: 111,006,773		noncoding transcript	Het
Gpr179	A	T	11: 97,337,608	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,997,447	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,782,148	N31D	possibly damaging	Het
Kel	C	T	6: 41,698,887		probably null	Het
Khk	A	T	5: 30,929,560	I108L	probably benign	Het
Morc4	T	C	X: 139,849,682	N375S	probably null	Het
Mta3	A	T	17: 83,800,045		probably benign	Het
Nacc2	T	C	2: 26,062,237	K369R	probably damaging	Het
Nkap	T	C	X: 37,139,670		probably benign	Het
Obscn	A	T	11: 59,037,792	L6016Q	probably damaging	Het
Olfr25	A	T	9: 38,329,656	Q20L	probably benign	Het
Olfr589	T	C	7: 103,155,201	E182G	probably damaging	Het
Pde4c	T	A	8: 70,746,595	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,730,420		probably null	Het
Rap1gap2	T	A	11: 74,412,344	I426F	probably damaging	Het
Rbm33	C	A	5: 28,391,061		probably benign	Het
Rnf139	C	A	15: 58,900,032	D635E	probably benign	Het
Sar1a	T	C	10: 61,684,939	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,289,702	S56A	probably benign	Het
Scn3a	T	C	2: 65,460,568	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,809,922	G118R	unknown	Het
Sgce	T	A	6: 4,689,738	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,842,507	Y277*	probably null	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Sphkap	A	T	1: 83,280,503	I173N	probably damaging	Het
Spred3	C	T	7: 29,161,572	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689	D283G	probably benign	Het
Tipin	A	T	9: 64,288,124	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,231,871	I380F	probably benign	Het
Tymp	T	C	15: 89,375,016	D195G	possibly damaging	Het
Ugt2b34	T	A	5: 86,906,685	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,363,714	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,243,889	S1024P	possibly damaging	Het

Other mutations in B3gnt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01352:B3gnt5	APN	16	19769213	missense	probably damaging	1.00
IGL01503:B3gnt5	APN	16	19769781	missense	probably damaging	1.00
IGL02623:B3gnt5	APN	16	19769610	missense	probably damaging	1.00
IGL02978:B3gnt5	APN	16	19769994	missense	probably damaging	1.00
IGL03388:B3gnt5	APN	16	19770051	missense	possibly damaging	0.83
R0180:B3gnt5	UTSW	16	19769100	missense	possibly damaging	0.48
R0973:B3gnt5	UTSW	16	19770010	missense	probably damaging	1.00
R0973:B3gnt5	UTSW	16	19770010	missense	probably damaging	1.00
R0974:B3gnt5	UTSW	16	19770010	missense	probably damaging	1.00
R1034:B3gnt5	UTSW	16	19769484	missense	probably damaging	1.00
R1435:B3gnt5	UTSW	16	19769174	missense	probably damaging	0.99
R1480:B3gnt5	UTSW	16	19769867	missense	probably damaging	1.00
R1533:B3gnt5	UTSW	16	19769614	missense	probably damaging	1.00
R1920:B3gnt5	UTSW	16	19769544	missense	probably benign	0.34
R3962:B3gnt5	UTSW	16	19769048	missense	probably benign	0.37
R3963:B3gnt5	UTSW	16	19769048	missense	probably benign	0.37
R4620:B3gnt5	UTSW	16	19769882	missense	probably benign	0.37
R4948:B3gnt5	UTSW	16	19769144	missense	probably benign
R4987:B3gnt5	UTSW	16	19769202	missense	probably damaging	1.00
R5027:B3gnt5	UTSW	16	19769694	missense	probably damaging	1.00
R6415:B3gnt5	UTSW	16	19770009	missense	probably damaging	1.00
R7027:B3gnt5	UTSW	16	19769990	missense	probably damaging	1.00
R7224:B3gnt5	UTSW	16	19769753	missense	probably benign	0.06
R7261:B3gnt5	UTSW	16	19769373	missense	probably damaging	1.00
R7369:B3gnt5	UTSW	16	19769660	missense	probably benign	0.00

Posted On

2016-08-02