Incidental Mutation 'R7511:B3galt5'
ID 582118
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 045584-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7511 (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 96116916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 183 (K183R)
Ref Sequence ENSEMBL: ENSMUSP00000097096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099497] [ENSMUST00000113800]
AlphaFold Q9JI67
Predicted Effect possibly damaging
Transcript: ENSMUST00000099497
AA Change: K183R

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: K183R

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
Pfam:Galactosyl_T 69 259 1.1e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113800
AA Change: K183R

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: K183R

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
Pfam:Galactosyl_T 69 259 1.1e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,189,954 (GRCm39) K327E probably damaging Het
Adamts14 G A 10: 61,054,307 (GRCm39) A572V possibly damaging Het
Add2 A G 6: 86,075,597 (GRCm39) N249D probably benign Het
Adgrb2 A T 4: 129,915,904 (GRCm39) M1503L probably benign Het
Alms1 A G 6: 85,586,407 (GRCm39) K421E unknown Het
Braf T C 6: 39,665,187 (GRCm39) I94M probably damaging Het
Cacna1a A G 8: 85,294,311 (GRCm39) E1158G possibly damaging Het
Ccdc177 C A 12: 80,804,457 (GRCm39) V606L unknown Het
Ccdc38 C A 10: 93,398,662 (GRCm39) L147I possibly damaging Het
Ccdc83 T C 7: 89,886,130 (GRCm39) N210D possibly damaging Het
Cdh20 T C 1: 109,925,583 (GRCm39) probably benign Het
Coro1b T A 19: 4,202,525 (GRCm39) Y338N probably damaging Het
Crlf3 A C 11: 79,954,812 (GRCm39) probably null Het
Crnn A T 3: 93,056,723 (GRCm39) K503M probably damaging Het
Cul5 T A 9: 53,537,269 (GRCm39) N521I probably damaging Het
Cyp2c50 T A 19: 40,080,634 (GRCm39) probably null Het
Dis3 T C 14: 99,337,042 (GRCm39) H23R possibly damaging Het
Dock7 A T 4: 98,949,519 (GRCm39) L441H Het
Dock7 C A 4: 98,967,992 (GRCm39) E162* probably null Het
Dpp9 A T 17: 56,512,611 (GRCm39) M174K possibly damaging Het
Dtd1 A G 2: 144,459,147 (GRCm39) D57G probably benign Het
F3 A G 3: 121,525,206 (GRCm39) E149G probably damaging Het
Glp2r C T 11: 67,648,417 (GRCm39) R95K probably damaging Het
Gpr107 T A 2: 31,068,358 (GRCm39) F273L probably benign Het
Gria1 A T 11: 57,174,451 (GRCm39) I647F probably damaging Het
Heatr5a A C 12: 51,926,217 (GRCm39) I1878S possibly damaging Het
Hsf2 G T 10: 57,380,653 (GRCm39) C230F probably benign Het
Igfbp2 T G 1: 72,891,164 (GRCm39) M254R probably damaging Het
Kifc2 C A 15: 76,545,537 (GRCm39) Q95K possibly damaging Het
Lnx1 T G 5: 74,780,972 (GRCm39) N183T probably benign Het
Ltn1 G T 16: 87,205,716 (GRCm39) T983K possibly damaging Het
Macf1 A T 4: 123,367,093 (GRCm39) V2556D possibly damaging Het
Map4k3 A G 17: 80,905,077 (GRCm39) V738A possibly damaging Het
Mtmr12 T G 15: 12,265,681 (GRCm39) Y466D possibly damaging Het
Musk A G 4: 58,333,672 (GRCm39) I256V probably benign Het
Ociad1 T C 5: 73,452,338 (GRCm39) F43S probably damaging Het
Or10g9b A T 9: 39,918,229 (GRCm39) S5R possibly damaging Het
Or4k5 A G 14: 50,385,713 (GRCm39) L206P probably damaging Het
Pah G A 10: 87,390,249 (GRCm39) A132T probably damaging Het
Pak5 G A 2: 135,925,244 (GRCm39) S686F possibly damaging Het
Pi4kb T C 3: 94,896,623 (GRCm39) S307P probably benign Het
Plxna1 T C 6: 89,318,889 (GRCm39) T645A possibly damaging Het
Pold1 C T 7: 44,191,614 (GRCm39) R124K possibly damaging Het
Pramel27 T A 4: 143,573,116 (GRCm39) I3N possibly damaging Het
Prdm10 T C 9: 31,289,777 (GRCm39) Y1153H probably damaging Het
Ptk2b T C 14: 66,391,693 (GRCm39) N947S possibly damaging Het
Rad54b A G 4: 11,578,956 (GRCm39) probably null Het
S1pr4 A G 10: 81,335,623 (GRCm39) probably benign Het
Sec23b A G 2: 144,432,269 (GRCm39) K760E probably benign Het
Sergef T A 7: 46,264,170 (GRCm39) N239I probably damaging Het
Serpinb9 C A 13: 33,192,054 (GRCm39) N78K probably benign Het
Sntb1 G T 15: 55,511,347 (GRCm39) F412L possibly damaging Het
Stradb T A 1: 59,032,108 (GRCm39) F294L probably damaging Het
Ttll11 G A 2: 35,793,046 (GRCm39) R266C probably damaging Het
Ttn A T 2: 76,624,882 (GRCm39) M15232K possibly damaging Het
Tubgcp2 T C 7: 139,584,793 (GRCm39) I547M probably benign Het
Vgf C A 5: 137,060,245 (GRCm39) P136T unknown Het
Vmn1r36 T A 6: 66,693,914 (GRCm39) probably benign Het
Vmn2r102 T C 17: 19,901,405 (GRCm39) S511P probably damaging Het
Wdr27 C T 17: 15,103,965 (GRCm39) V714I probably benign Het
Zbed6 T A 1: 133,586,981 (GRCm39) I119L probably benign Het
Zfp229 A G 17: 21,964,045 (GRCm39) S92G probably benign Het
Zfp710 C T 7: 79,732,250 (GRCm39) Q476* probably null Het
Zfp808 A G 13: 62,320,637 (GRCm39) N622S probably benign 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
R6017:B3galt5 UTSW 16 96,116,384 (GRCm39) missense probably benign 0.01
R7155:B3galt5 UTSW 16 96,117,005 (GRCm39) missense probably damaging 1.00
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'- GGACTTCAAGGATGCCTACTTC -3'
(R):5'- CGGATCTTTAGCTTGGCCAAG -3'

Sequencing Primer
(F):5'- TCAAGGATGCCTACTTCAACCTG -3'
(R):5'- AAACACATCCTCCAGCTTGATG -3'
Posted On 2019-10-17