Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02269:B3galt5'

287071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B3galt5

Ensembl Gene

ENSMUSG00000074892

Gene Name

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5

Synonyms

b3Galt-V, 1190002B21Rik

Accession Numbers

Genbank: NM_033149; MGI: 2136878

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02269

Quality Score

Status

Chromosome

Chromosomal Location

96235801-96319859 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96315530 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 121 (D121G)

Ref Sequence

ENSEMBL: ENSMUSP00000109431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099497] [ENSMUST00000113800]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099497
AA Change: D121G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: D121G

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:Galactosyl_T	69	259	1.1e-60	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113800
AA Change: D121G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: D121G

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:Galactosyl_T	69	259	1.1e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153586

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 a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants have been observed for this gene, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mice for a targeted mutation appear normal. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,942,598	V59A	unknown	Het
A2ml1	C	A	6: 128,553,338		probably benign	Het
Akap13	G	A	7: 75,602,911	R263H	probably benign	Het
Becn1	A	G	11: 101,291,535		probably benign	Het
Carmil1	A	T	13: 24,155,410	L150*	probably null	Het
Cep170	A	T	1: 176,769,366	M475K	probably benign	Het
Cyp24a1	C	T	2: 170,496,572	G68D	probably damaging	Het
Cyp3a44	A	T	5: 145,805,737	I18N	probably benign	Het
Dmrt2	T	C	19: 25,678,459	V474A	probably benign	Het
Dtnb	A	G	12: 3,596,691	D64G	probably damaging	Het
Epb41l3	T	C	17: 69,247,573	S223P	probably damaging	Het
Ephb2	A	G	4: 136,771,049	Y240H	possibly damaging	Het
Extl3	T	C	14: 65,077,583	Y50C	probably damaging	Het
Fat3	A	C	9: 15,915,577	S4360A	possibly damaging	Het
Fbxo9	A	T	9: 78,087,553	V230E	probably damaging	Het
Frmd4a	T	C	2: 4,604,234	M971T	probably benign	Het
Gm7275	A	G	16: 48,073,822		noncoding transcript	Het
Hyal6	C	T	6: 24,740,859	T337I	probably damaging	Het
Obsl1	C	T	1: 75,487,713	V1650M	probably damaging	Het
Olfr143	A	T	9: 38,253,936	D173V	possibly damaging	Het
Olfr341	A	T	2: 36,479,567	S188T	possibly damaging	Het
Olfr619	T	A	7: 103,603,882	I76N	probably damaging	Het
Olfr860	A	T	9: 19,845,728	I297N	possibly damaging	Het
Pcdh7	A	C	5: 57,913,322	E1114A	probably damaging	Het
Pde8a	C	T	7: 81,308,802		probably benign	Het
Pdzrn4	A	T	15: 92,769,850	S628C	probably damaging	Het
Pear1	C	T	3: 87,756,264	G376S	probably damaging	Het
Plekha6	C	T	1: 133,287,849	T644M	possibly damaging	Het
Plpp1	T	A	13: 112,856,992	C153S	probably damaging	Het
Ptpn3	G	A	4: 57,197,510	T793M	possibly damaging	Het
Rdh13	A	T	7: 4,445,498	L5Q	possibly damaging	Het
Rimbp2	G	T	5: 128,774,295	D862E	probably damaging	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Scamp1	C	T	13: 94,232,186		probably benign	Het
Scamp3	A	G	3: 89,180,734	T178A	probably benign	Het
Sh3tc1	A	G	5: 35,706,284	V853A	probably benign	Het
Snrnp200	C	T	2: 127,229,991	T1197M	possibly damaging	Het
Sult3a1	T	C	10: 33,879,263	F275L	probably benign	Het
Tenm4	A	T	7: 96,823,822	I905F	probably damaging	Het
Tgm3	T	A	2: 130,024,518	S119T	probably benign	Het
Tmem131l	A	T	3: 83,938,050	D424E	possibly damaging	Het
Tmem45b	G	T	9: 31,427,983	C145*	probably null	Het
Unc5c	G	A	3: 141,788,982	R352H	probably damaging	Het
Vmn2r12	A	G	5: 109,086,477	L623P	probably damaging	Het
Vmn2r68	T	C	7: 85,221,739	M779V	possibly damaging	Het
Zfhx2	T	C	14: 55,071,936	N902S	probably benign	Het

Other mutations in B3galt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:B3galt5	APN	16	96315723	missense	probably benign	0.38
IGL01523:B3galt5	APN	16	96315891	missense	probably damaging	1.00
R1991:B3galt5	UTSW	16	96316025	missense	probably damaging	0.99
R2103:B3galt5	UTSW	16	96316025	missense	probably damaging	0.99
R5633:B3galt5	UTSW	16	96315509	missense	probably benign	0.30
R6017:B3galt5	UTSW	16	96315184	missense	probably benign	0.01
R7155:B3galt5	UTSW	16	96315805	missense	probably damaging	1.00
R7511:B3galt5	UTSW	16	96315716	missense	possibly damaging	0.76
R8314:B3galt5	UTSW	16	96315449	missense	probably damaging	1.00
Z1177:B3galt5	UTSW	16	96315379	missense	probably damaging	1.00
Z1177:B3galt5	UTSW	16	96316032	missense	probably benign

Posted On

2015-04-16