Incidental Mutation 'R5633:B3galt5'
ID 440001
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 043284-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5633 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 96037001-96121059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96116709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 114 (H114L)
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: H114L

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000097096
Gene: ENSMUSG00000074892
AA Change: H114L

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: H114L

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109431
Gene: ENSMUSG00000074892
AA Change: H114L

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 0.6279 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,344,598 (GRCm39) C125S probably benign Het
Abcb8 T C 5: 24,608,107 (GRCm39) L382P probably damaging Het
Acot3 A G 12: 84,105,724 (GRCm39) probably null Het
Acsl6 A T 11: 54,228,015 (GRCm39) Q345L probably benign Het
Adcy8 A G 15: 64,571,134 (GRCm39) S1170P probably damaging Het
Ankrd28 T G 14: 31,457,022 (GRCm39) D182A probably damaging Het
Bcas2 T A 3: 103,085,740 (GRCm39) Y207* probably null Het
Best1 A G 19: 9,969,467 (GRCm39) L197P probably benign Het
Chil6 C A 3: 106,296,068 (GRCm39) C389F probably damaging Het
Chrna4 T C 2: 180,671,253 (GRCm39) T168A probably damaging Het
Ckmt1 C G 2: 121,194,110 (GRCm39) probably benign Het
Dhcr7 T C 7: 143,401,160 (GRCm39) L441P probably damaging Het
Dmtn T C 14: 70,842,419 (GRCm39) M365V probably benign Het
Dmxl1 T A 18: 50,010,764 (GRCm39) S974T probably damaging Het
Dnajb13 T C 7: 100,156,626 (GRCm39) D150G probably benign Het
Eef2k C A 7: 120,472,513 (GRCm39) probably benign Het
Elp2 T A 18: 24,748,267 (GRCm39) V213E probably damaging Het
Fbxo43 A T 15: 36,162,241 (GRCm39) probably null Het
Gm11559 C A 11: 99,755,412 (GRCm39) C20* probably null Het
Gnb2 T C 5: 137,527,454 (GRCm39) I213V probably benign Het
Gnb5 C T 9: 75,251,796 (GRCm39) T306I probably damaging Het
Ica1 A T 6: 8,667,257 (GRCm39) I303N possibly damaging Het
Idh1 A G 1: 65,204,295 (GRCm39) Y272H probably damaging Het
Ikzf2 G A 1: 69,578,256 (GRCm39) Q273* probably null Het
Itpkb A T 1: 180,154,790 (GRCm39) ⇒1 probably benign Het
Kntc1 C T 5: 123,957,120 (GRCm39) T2143I probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lmbrd1 C A 1: 24,787,943 (GRCm39) D464E possibly damaging Het
Med13 A G 11: 86,169,757 (GRCm39) probably benign Het
Mn1 T C 5: 111,568,192 (GRCm39) F721L possibly damaging Het
Myo9a T A 9: 59,775,467 (GRCm39) L1026Q possibly damaging Het
Or6c204 A T 10: 129,022,718 (GRCm39) F191I probably benign Het
P4htm A C 9: 108,456,922 (GRCm39) D428E probably damaging Het
Parp8 C T 13: 117,013,116 (GRCm39) R602H probably damaging Het
Pkd2 T A 5: 104,646,372 (GRCm39) S726R probably damaging Het
Pla2g6 A T 15: 79,183,342 (GRCm39) I495N possibly damaging Het
Psmd5 A G 2: 34,746,500 (GRCm39) I359T probably benign Het
Rassf6 T C 5: 90,751,977 (GRCm39) H292R possibly damaging Het
Rnf145 T C 11: 44,450,915 (GRCm39) I413T probably damaging Het
Rpn2 T A 2: 157,125,516 (GRCm39) V9D possibly damaging Het
Rpp30 T C 19: 36,064,390 (GRCm39) L57P probably damaging Het
Slc41a1 A G 1: 131,774,325 (GRCm39) H464R possibly damaging Het
Slc47a1 G T 11: 61,260,087 (GRCm39) P163Q probably damaging Het
Smc4 T A 3: 68,915,443 (GRCm39) I165K probably damaging Het
Stra6l T A 4: 45,881,455 (GRCm39) I439K probably benign Het
Syt9 C T 7: 107,024,503 (GRCm39) T132I probably damaging Het
Timd6 C T 11: 46,465,433 (GRCm39) S9L unknown Het
Trpm2 T C 10: 77,774,187 (GRCm39) I471V possibly damaging Het
Uap1l1 A G 2: 25,253,361 (GRCm39) M358T probably benign Het
Vmn1r91 A T 7: 19,835,870 (GRCm39) H263L possibly damaging Het
Zfp407 T C 18: 84,579,169 (GRCm39) D648G probably benign Het
Zpbp2 T C 11: 98,445,584 (GRCm39) I150T 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
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
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'- TAGACTGCAAGCAGAAGCC -3'
(R):5'- GTAGCCTGTGAAGAACCTGGTC -3'

Sequencing Primer
(F):5'- AGCAGAAGCCGCCTTTC -3'
(R):5'- CCTGTGAAGAACCTGGTCGTTTTG -3'
Posted On 2016-11-08