Incidental Mutation 'R4948:B3gnt5'
ID 383622
Institutional Source Beutler Lab
Gene Symbol B3gnt5
Ensembl Gene ENSMUSG00000022686
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
Synonyms
MMRRC Submission 042545-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R4948 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19578958-19591503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 19587894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 38 (M38L)
Ref Sequence ENSEMBL: ENSMUSP00000126157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079780] [ENSMUST00000119468] [ENSMUST00000121344] [ENSMUST00000164397]
AlphaFold Q8BGY6
Predicted Effect probably benign
Transcript: ENSMUST00000079780
AA Change: M38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078712
Gene: ENSMUSG00000022686
AA Change: M38L

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119468
AA Change: M38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113145
Gene: ENSMUSG00000022686
AA Change: M38L

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121344
AA Change: M38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112624
Gene: ENSMUSG00000022686
AA Change: M38L

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155780
Predicted Effect probably benign
Transcript: ENSMUST00000164397
AA Change: M38L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126157
Gene: ENSMUSG00000022686
AA Change: M38L

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Pfam:Galactosyl_T 100 299 2e-49 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 94% (103/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice may show variable types of lethality or no lethality depending on the allele. Mice homozygous for 3 alleles show B cell abnormalities. Mice homozygous or heterozygous for 2 allele show reduced fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,154 (GRCm39) probably null Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Alas1 A T 9: 106,124,077 (GRCm39) L27* probably null Het
Aldh1a7 A G 19: 20,704,374 (GRCm39) V40A possibly damaging Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
Brd8 A G 18: 34,747,585 (GRCm39) V92A probably damaging Het
Btla A T 16: 45,063,091 (GRCm39) E151D probably benign Het
Cd79b T A 11: 106,203,687 (GRCm39) T67S probably benign Het
Cep192 A G 18: 67,949,875 (GRCm39) R320G probably benign Het
Chad A C 11: 94,456,528 (GRCm39) D202A probably damaging Het
Chil6 A G 3: 106,295,988 (GRCm39) probably benign Het
Cpz T C 5: 35,674,748 (GRCm39) E167G possibly damaging Het
Crisp2 T G 17: 41,076,159 (GRCm39) H225P probably damaging Het
Cyp2c23 T C 19: 44,010,138 (GRCm39) Y69C possibly damaging Het
Dcp1a T A 14: 30,201,724 (GRCm39) L49H probably damaging Het
Dnah6 T A 6: 73,030,672 (GRCm39) H3380L probably benign Het
Dnai3 T A 3: 145,788,820 (GRCm39) K254* probably null Het
Dnm2 A G 9: 21,415,829 (GRCm39) D721G possibly damaging Het
Dnpep G T 1: 75,293,404 (GRCm39) T15K probably benign Het
Dock3 A T 9: 106,868,354 (GRCm39) D643E probably damaging Het
Ear6 C T 14: 52,091,573 (GRCm39) T40I possibly damaging Het
Fancm A G 12: 65,137,748 (GRCm39) D313G probably damaging Het
Fbxw16 T A 9: 109,267,415 (GRCm39) E272V probably damaging Het
Frmd4b T A 6: 97,283,691 (GRCm39) E393D probably benign Het
Fryl T A 5: 73,246,473 (GRCm39) M1100L probably benign Het
Gjd3 T C 11: 102,691,247 (GRCm39) H252R probably damaging Het
Gm10518 T C 1: 179,631,477 (GRCm39) probably benign Het
Gna14 A G 19: 16,580,656 (GRCm39) M165V probably benign Het
Hells C A 19: 38,923,966 (GRCm39) Q72K probably damaging Het
Herc1 A G 9: 66,392,184 (GRCm39) I4031V probably benign Het
Hspa2 C T 12: 76,452,761 (GRCm39) A485V probably damaging Het
Ighv1-54 T A 12: 115,157,438 (GRCm39) I70F probably benign Het
Il20rb A T 9: 100,343,592 (GRCm39) probably benign Het
Irag1 A G 7: 110,487,236 (GRCm39) V498A probably damaging Het
Krt1 C A 15: 101,754,376 (GRCm39) V625L unknown Het
Lamc3 T C 2: 31,830,748 (GRCm39) I1495T probably benign Het
Larp6 A G 9: 60,645,063 (GRCm39) E401G possibly damaging Het
Ldha A T 7: 46,496,805 (GRCm39) H19L probably benign Het
Lrba A G 3: 86,192,335 (GRCm39) N83S probably damaging Het
Lrp4 G T 2: 91,316,231 (GRCm39) R783L probably benign Het
Lrrk2 T G 15: 91,687,592 (GRCm39) I2227S probably benign Het
Lvrn T C 18: 47,013,803 (GRCm39) L495P probably damaging Het
Macf1 T C 4: 123,391,548 (GRCm39) N1077S probably damaging Het
Mboat1 A G 13: 30,425,213 (GRCm39) T425A probably damaging Het
Mcam A G 9: 44,047,863 (GRCm39) E36G probably damaging Het
Meis1 T A 11: 18,966,308 (GRCm39) T22S probably benign Het
Micu1 A G 10: 59,699,076 (GRCm39) K451R possibly damaging Het
Nat8 A T 6: 85,807,505 (GRCm39) D209E probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nmral1 G A 16: 4,534,274 (GRCm39) R56* probably null Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or5b99 A T 19: 12,977,195 (GRCm39) T282S probably benign Het
Or5g25 T C 2: 85,477,916 (GRCm39) I250V probably benign Het
Or5h24 G A 16: 58,919,340 (GRCm39) T5I probably damaging Het
Palm3 A T 8: 84,753,708 (GRCm39) R132* probably null Het
Pax2 A G 19: 44,804,479 (GRCm39) Y272C probably damaging Het
Phc2 G A 4: 128,616,908 (GRCm39) A394T probably benign Het
Phf2 C A 13: 48,961,198 (GRCm39) G831C unknown Het
Pik3c2b G A 1: 133,027,453 (GRCm39) probably null Het
Plin2 T A 4: 86,580,228 (GRCm39) I178F probably benign Het
Pramel32 A T 4: 88,547,185 (GRCm39) L162H probably damaging Het
Prdm14 T A 1: 13,192,855 (GRCm39) I295F probably damaging Het
Psmd5 C T 2: 34,760,795 (GRCm39) R47H probably benign Het
Ptchd3 T A 11: 121,733,342 (GRCm39) I744K probably damaging Het
Ptrh1 T A 2: 32,666,557 (GRCm39) probably benign Het
Rab6a A G 7: 100,277,627 (GRCm39) D49G probably damaging Het
Radil A T 5: 142,470,994 (GRCm39) D1062E probably benign Het
Robo2 A G 16: 74,149,726 (GRCm39) V34A possibly damaging Het
Sall3 G A 18: 81,014,626 (GRCm39) P1029S probably benign Het
Sec14l3 A G 11: 4,018,101 (GRCm39) D127G possibly damaging Het
Sel1l2 A G 2: 140,086,086 (GRCm39) Y502H probably damaging Het
Serpina1f A G 12: 103,656,010 (GRCm39) V406A probably damaging Het
Sf3b3 T C 8: 111,540,301 (GRCm39) D1040G probably damaging Het
Sgcd A G 11: 46,870,262 (GRCm39) I233T possibly damaging Het
Slc15a3 A G 19: 10,820,410 (GRCm39) Q9R probably benign Het
Slc25a46 A G 18: 31,716,336 (GRCm39) F389L probably damaging Het
Slc26a2 G T 18: 61,331,330 (GRCm39) C700* probably null Het
Slc4a7 A G 14: 14,771,283 (GRCm38) Y671C possibly damaging Het
Slc5a10 A T 11: 61,610,708 (GRCm39) I22N probably damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slc6a12 A G 6: 121,332,281 (GRCm39) D205G probably benign Het
Tas2r115 G A 6: 132,714,124 (GRCm39) H276Y probably damaging Het
Tdpoz4 T A 3: 93,704,318 (GRCm39) I205N probably damaging Het
Tfeb C T 17: 48,096,904 (GRCm39) T33I probably benign Het
Tgm3 A G 2: 129,890,240 (GRCm39) T668A probably benign Het
Tnpo3 A G 6: 29,582,259 (GRCm39) V201A probably benign Het
Tpcn1 T A 5: 120,694,596 (GRCm39) M158L probably benign Het
Trim47 A C 11: 115,996,918 (GRCm39) L612R probably damaging Het
Trmt10c A T 16: 55,854,438 (GRCm39) L399* probably null Het
Trpm2 A T 10: 77,753,626 (GRCm39) S1293T probably benign Het
Ttn C T 2: 76,582,941 (GRCm39) V22651I probably damaging Het
Tubgcp5 A G 7: 55,455,871 (GRCm39) I300V probably benign Het
Uty T A Y: 1,136,883 (GRCm39) Q844L probably damaging Het
Vmn2r85 C T 10: 130,254,990 (GRCm39) E565K probably damaging Het
Vmn2r97 T C 17: 19,167,561 (GRCm39) V605A possibly damaging Het
Vwa3a T C 7: 120,375,487 (GRCm39) V399A probably damaging Het
Wnk4 G A 11: 101,159,107 (GRCm39) R508Q probably damaging Het
Zfp217 A G 2: 169,961,130 (GRCm39) V399A probably damaging Het
Zfp616 T A 11: 73,974,830 (GRCm39) N457K possibly damaging Het
Other mutations in B3gnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:B3gnt5 APN 16 19,587,963 (GRCm39) missense probably damaging 1.00
IGL01503:B3gnt5 APN 16 19,588,531 (GRCm39) missense probably damaging 1.00
IGL02623:B3gnt5 APN 16 19,588,360 (GRCm39) missense probably damaging 1.00
IGL02978:B3gnt5 APN 16 19,588,744 (GRCm39) missense probably damaging 1.00
IGL03355:B3gnt5 APN 16 19,587,903 (GRCm39) missense probably benign 0.01
IGL03388:B3gnt5 APN 16 19,588,801 (GRCm39) missense possibly damaging 0.83
R0180:B3gnt5 UTSW 16 19,587,850 (GRCm39) missense possibly damaging 0.48
R0973:B3gnt5 UTSW 16 19,588,760 (GRCm39) missense probably damaging 1.00
R0973:B3gnt5 UTSW 16 19,588,760 (GRCm39) missense probably damaging 1.00
R0974:B3gnt5 UTSW 16 19,588,760 (GRCm39) missense probably damaging 1.00
R1034:B3gnt5 UTSW 16 19,588,234 (GRCm39) missense probably damaging 1.00
R1435:B3gnt5 UTSW 16 19,587,924 (GRCm39) missense probably damaging 0.99
R1480:B3gnt5 UTSW 16 19,588,617 (GRCm39) missense probably damaging 1.00
R1533:B3gnt5 UTSW 16 19,588,364 (GRCm39) missense probably damaging 1.00
R1920:B3gnt5 UTSW 16 19,588,294 (GRCm39) missense probably benign 0.34
R3962:B3gnt5 UTSW 16 19,587,798 (GRCm39) missense probably benign 0.37
R3963:B3gnt5 UTSW 16 19,587,798 (GRCm39) missense probably benign 0.37
R4620:B3gnt5 UTSW 16 19,588,632 (GRCm39) missense probably benign 0.37
R4987:B3gnt5 UTSW 16 19,587,952 (GRCm39) missense probably damaging 1.00
R5027:B3gnt5 UTSW 16 19,588,444 (GRCm39) missense probably damaging 1.00
R6415:B3gnt5 UTSW 16 19,588,759 (GRCm39) missense probably damaging 1.00
R7027:B3gnt5 UTSW 16 19,588,740 (GRCm39) missense probably damaging 1.00
R7224:B3gnt5 UTSW 16 19,588,503 (GRCm39) missense probably benign 0.06
R7261:B3gnt5 UTSW 16 19,588,123 (GRCm39) missense probably damaging 1.00
R7369:B3gnt5 UTSW 16 19,588,410 (GRCm39) missense probably benign 0.00
R8818:B3gnt5 UTSW 16 19,588,347 (GRCm39) missense possibly damaging 0.53
Z1176:B3gnt5 UTSW 16 19,588,560 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTGGAATGAGACCTTTTCCC -3'
(R):5'- GCCATAGTTTTCAGGGGCAGTC -3'

Sequencing Primer
(F):5'- GAAATGCATCTATTCTACAGAGCTC -3'
(R):5'- TCAGGGGCAGTCTTTATAAACAG -3'
Posted On 2016-04-27