Incidental Mutation 'IGL01523:B3galt5'
ID89474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galt5
Ensembl Gene ENSMUSG00000074892
Gene NameUDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5
Synonymsb3Galt-V, 1190002B21Rik
Accession Numbers

Genbank: NM_033149; MGI: 2136878

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01523
Quality Score
Status
Chromosome16
Chromosomal Location96235801-96319859 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 96315891 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 241 (D241E)
Ref Sequence ENSEMBL: ENSMUSP00000109431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099497] [ENSMUST00000113800]
Predicted Effect probably damaging
Transcript: ENSMUST00000099497
AA Change: D241E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: D241E

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
Pfam:Galactosyl_T 69 259 1.1e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113800
AA Change: D241E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: D241E

DomainStartEndE-ValueType
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,976,494 E246G probably damaging Het
Camta1 A G 4: 151,145,050 F442L possibly damaging Het
Cntnap5b A T 1: 100,431,779 E709V probably benign Het
Ctnnal1 T C 4: 56,835,243 I345V probably damaging Het
Evpl T C 11: 116,233,444 N183S probably damaging Het
Fam90a1b T C X: 94,356,759 D155G probably benign Het
Fsip2 G A 2: 82,977,519 S1394N probably benign Het
Gcnt2 A T 13: 40,887,863 Q166L probably benign Het
Gpatch1 T C 7: 35,308,338 D99G probably null Het
Grin2b A T 6: 136,044,265 W13R probably null Het
Hbb-bh1 C T 7: 103,841,817 V127M probably benign Het
Hc C T 2: 35,039,238 M282I probably benign Het
Hirip3 A G 7: 126,862,704 E57G probably damaging Het
Inpp5j C T 11: 3,495,932 probably null Het
Krt84 A T 15: 101,528,744 V328E probably damaging Het
Lrriq1 C A 10: 103,218,116 E247* probably null Het
Mmrn2 T A 14: 34,403,217 F918L probably damaging Het
Myh13 A G 11: 67,347,943 E704G possibly damaging Het
Myo16 T A 8: 10,370,908 N249K probably damaging Het
Nobox C A 6: 43,304,123 K472N probably damaging Het
Olfr3 T A 2: 36,812,403 T230S probably benign Het
Orc4 A T 2: 48,917,224 S232T probably benign Het
Pign A T 1: 105,653,178 Y159N probably damaging Het
Rere T A 4: 150,615,555 V1032E possibly damaging Het
Ror2 T C 13: 53,118,963 Q210R probably benign Het
Sh3tc2 G A 18: 61,990,883 R905Q probably benign Het
Ttn A G 2: 76,954,983 S683P possibly damaging Het
Other mutations in B3galt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:B3galt5 APN 16 96315723 missense probably benign 0.38
IGL02269:B3galt5 APN 16 96315530 missense possibly damaging 0.90
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 On2013-12-03