Incidental Mutation 'R6017:B3galt5'
ID 478672
Institutional Source Beutler Lab
Gene Symbol B3galt5
Ensembl Gene ENSMUSG00000074892
Gene Name UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5
Synonyms 1190002B21Rik, b3Galt-V
MMRRC Submission 044191-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6017 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 96037001-96121059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96116384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000109431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099497] [ENSMUST00000113800]
AlphaFold Q9JI67
Predicted Effect probably benign
Transcript: ENSMUST00000099497
AA Change: T6A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: T6A

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
Pfam:Galactosyl_T 69 259 1.1e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113800
AA Change: T6A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: T6A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 97% (62/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,325,780 (GRCm39) I56M probably damaging Het
Adgrv1 A T 13: 81,545,542 (GRCm39) L5581* probably null Het
Arpc2 C A 1: 74,301,645 (GRCm39) H193N probably benign Het
Bod1l A T 5: 41,976,103 (GRCm39) V1737E probably benign Het
Cacfd1 T G 2: 26,903,440 (GRCm39) probably benign Het
Cdc42ep4 A T 11: 113,620,192 (GRCm39) D66E probably benign Het
Cldn1 G T 16: 26,181,969 (GRCm39) T80N probably damaging Het
Cmtm1 C A 8: 105,037,583 (GRCm39) probably benign Het
Cntnap5c A T 17: 58,411,693 (GRCm39) I526F probably benign Het
Copb1 T C 7: 113,836,032 (GRCm39) K450E probably benign Het
Crebrf A C 17: 26,976,823 (GRCm39) I416L probably benign Het
Csmd3 C A 15: 48,177,408 (GRCm39) V377F possibly damaging Het
Cyp1a2 T C 9: 57,588,313 (GRCm39) K304E probably damaging Het
Cyp2d26 A G 15: 82,674,774 (GRCm39) S403P possibly damaging Het
Cyp4a12a T A 4: 115,183,476 (GRCm39) C198* probably null Het
Ddx11 A G 17: 66,437,012 (GRCm39) D102G Het
Dpys T A 15: 39,710,114 (GRCm39) Q105L probably null Het
Dsn1 C A 2: 156,838,162 (GRCm39) R334L probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha8 G T 4: 136,659,054 (GRCm39) H867N probably damaging Het
Ephb3 T C 16: 21,040,781 (GRCm39) L643P probably damaging Het
Fbxo44 G T 4: 148,243,010 (GRCm39) H83Q probably benign Het
Gm13102 T C 4: 143,835,807 (GRCm39) Y477H possibly damaging Het
Gm7347 T C 5: 26,262,276 (GRCm39) T82A probably benign Het
Gss C A 2: 155,429,385 (GRCm39) A36S probably benign Het
Hepacam A G 9: 37,292,056 (GRCm39) D128G probably benign Het
Hepacam2 C A 6: 3,483,332 (GRCm39) V226F probably damaging Het
Hgfac T C 5: 35,201,739 (GRCm39) Y291H probably damaging Het
Ip6k2 G A 9: 108,674,466 (GRCm39) R88H probably benign Het
Irx5 T A 8: 93,084,878 (GRCm39) Y23N probably damaging Het
Kcnf1 T C 12: 17,225,082 (GRCm39) M380V probably damaging Het
Kcnj1 A T 9: 32,305,400 (GRCm39) probably benign Het
Kcnk12 T C 17: 88,054,164 (GRCm39) E166G probably damaging Het
Kctd16 T C 18: 40,391,996 (GRCm39) C195R probably damaging Het
Kif28 T A 1: 179,527,018 (GRCm39) I718F probably benign Het
Lce1e T A 3: 92,615,240 (GRCm39) K36* probably null Het
Map4 T C 9: 109,863,687 (GRCm39) L304P probably benign Het
Mettl17 C T 14: 52,129,074 (GRCm39) probably benign Het
Mpp4 T C 1: 59,160,518 (GRCm39) D595G probably damaging Het
Myo18a A G 11: 77,732,349 (GRCm39) K1282E probably damaging Het
Nf2 A T 11: 4,766,137 (GRCm39) V131D possibly damaging Het
Or7g35 T C 9: 19,496,730 (GRCm39) V299A probably benign Het
Or8b3 A T 9: 38,314,916 (GRCm39) M249L probably benign Het
Oxsr1 A G 9: 119,093,843 (GRCm39) L270S probably benign Het
Plekhg2 G A 7: 28,062,309 (GRCm39) T536I probably damaging Het
Ppp1r9a T A 6: 4,906,363 (GRCm39) V306D probably benign Het
Ptk6 C T 2: 180,837,605 (GRCm39) C438Y probably benign Het
Scfd1 T C 12: 51,492,461 (GRCm39) V590A probably damaging Het
Serpina1b A G 12: 103,695,531 (GRCm39) S337P probably damaging Het
Skor2 T A 18: 76,946,622 (GRCm39) C115S unknown Het
Slc2a7 T C 4: 150,249,629 (GRCm39) S407P probably damaging Het
Slc8a1 A G 17: 81,955,683 (GRCm39) S452P probably damaging Het
Spata31d1c A G 13: 65,182,893 (GRCm39) D145G possibly damaging Het
Spata6 C A 4: 111,632,024 (GRCm39) T145K probably damaging Het
Stab1 C T 14: 30,863,501 (GRCm39) R2087H probably benign Het
Stk24 C T 14: 121,539,657 (GRCm39) V180M probably benign Het
Trrap A G 5: 144,781,051 (GRCm39) T3271A probably damaging Het
Tyro3 T A 2: 119,647,147 (GRCm39) W755R probably damaging Het
Ush2a T C 1: 188,689,711 (GRCm39) probably null Het
Uts2b T C 16: 27,179,793 (GRCm39) probably null Het
Vmn2r105 T A 17: 20,428,889 (GRCm39) H729L probably damaging Het
Vps35l T A 7: 118,409,144 (GRCm39) V635D probably damaging Het
Wdfy3 T C 5: 101,999,225 (GRCm39) I3068V probably benign Het
Zfp457 G A 13: 67,441,763 (GRCm39) H175Y probably damaging Het
Zfp758 A G 17: 22,592,712 (GRCm39) D40G probably damaging Het
Other mutations in B3galt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:B3galt5 APN 16 96,116,923 (GRCm39) missense probably benign 0.38
IGL01523:B3galt5 APN 16 96,117,091 (GRCm39) missense probably damaging 1.00
IGL02269:B3galt5 APN 16 96,116,730 (GRCm39) missense possibly damaging 0.90
R1991:B3galt5 UTSW 16 96,117,225 (GRCm39) missense probably damaging 0.99
R2103:B3galt5 UTSW 16 96,117,225 (GRCm39) missense probably damaging 0.99
R5633:B3galt5 UTSW 16 96,116,709 (GRCm39) missense probably benign 0.30
R7155:B3galt5 UTSW 16 96,117,005 (GRCm39) missense probably damaging 1.00
R7511:B3galt5 UTSW 16 96,116,916 (GRCm39) missense possibly damaging 0.76
R8314:B3galt5 UTSW 16 96,116,649 (GRCm39) missense probably damaging 1.00
R9664:B3galt5 UTSW 16 96,117,203 (GRCm39) missense probably damaging 0.97
Z1177:B3galt5 UTSW 16 96,117,232 (GRCm39) missense probably benign
Z1177:B3galt5 UTSW 16 96,116,579 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTACAACTGTCTTCACTCTTAAG -3'
(R):5'- TGTGAGATGACGTCACCAGC -3'

Sequencing Primer
(F):5'- CCTTTGCATTGGGGACTT -3'
(R):5'- GATGACGTCACCAGCAGCAC -3'
Posted On 2017-06-26