Incidental Mutation 'R5779:B3gntl1'
ID446888
Institutional Source Beutler Lab
Gene Symbol B3gntl1
Ensembl Gene ENSMUSG00000046605
Gene NameUDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
Synonyms
MMRRC Submission 043377-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #R5779 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location121616197-121673153 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 121651676 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062654] [ENSMUST00000067399]
Predicted Effect probably null
Transcript: ENSMUST00000062654
SMART Domains Protein: ENSMUSP00000049890
Gene: ENSMUSG00000046605

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 14 244 3e-13 PFAM
Pfam:Glycos_transf_2 17 189 2.2e-24 PFAM
Pfam:Glyco_tranf_2_2 17 237 9.5e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000067399
SMART Domains Protein: ENSMUSP00000068590
Gene: ENSMUSG00000046605

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 14 245 1.4e-10 PFAM
Pfam:Glycos_transf_2 17 189 1.2e-23 PFAM
Pfam:Glyco_tranf_2_2 17 248 2.1e-8 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A T 17: 56,881,061 N190Y probably benign Het
2310035C23Rik T G 1: 105,687,347 N246K probably damaging Het
Abca6 T C 11: 110,184,670 M1332V probably benign Het
Afg3l2 T C 18: 67,440,443 K132R probably null Het
Arap3 T C 18: 37,984,365 D886G probably damaging Het
Cdk12 T A 11: 98,219,074 S640R probably benign Het
Ceacam12 C A 7: 18,069,154 P162T probably benign Het
Chrna5 C A 9: 54,998,104 H67N probably benign Het
Copb1 T A 7: 114,219,572 D837V probably damaging Het
D11Wsu47e A G 11: 113,687,992 D71G probably benign Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Ect2l T A 10: 18,163,438 Q324L probably benign Het
Eef1e1 T C 13: 38,646,273 N141S probably damaging Het
Eif2ak4 A C 2: 118,412,963 N208T possibly damaging Het
Ext1 A G 15: 53,344,553 Y271H probably damaging Het
Fam173a A G 17: 25,790,657 V194A probably benign Het
Fbxo5 G A 10: 5,800,303 R323C possibly damaging Het
Fpr-rs3 C A 17: 20,624,226 A218S possibly damaging Het
Gm20499 G A 5: 114,817,021 probably benign Het
Gucy1b2 C A 14: 62,414,301 L400F possibly damaging Het
Hgd T A 16: 37,593,371 L24H probably benign Het
Hmx3 C A 7: 131,544,328 S255* probably null Het
Ifrd1 A T 12: 40,203,370 F448I probably damaging Het
Igfn1 T A 1: 135,966,840 E1996V probably benign Het
Itpr1 G A 6: 108,352,143 G173R probably damaging Het
Kbtbd8 T C 6: 95,118,534 S26P probably benign Het
Kctd17 A T 15: 78,437,133 probably benign Het
Matr3 T C 18: 35,584,522 S258P possibly damaging Het
Mpp4 G A 1: 59,151,666 A90V probably benign Het
Mrpl20 G A 4: 155,806,921 R34Q probably damaging Het
Neb A T 2: 52,245,301 S3266T probably damaging Het
Nipal3 A G 4: 135,452,339 probably benign Het
Npas2 A T 1: 39,287,571 T46S possibly damaging Het
Nsd3 G T 8: 25,682,669 E815* probably null Het
Nup98 C A 7: 102,152,361 V786L probably benign Het
Olfr730 A T 14: 50,186,746 M157K possibly damaging Het
Pcdhb3 T C 18: 37,301,467 V162A probably benign Het
Pcgf2 G A 11: 97,690,291 P58L probably damaging Het
Penk A G 4: 4,134,318 F110L probably damaging Het
Scfd1 A G 12: 51,431,529 N508S probably benign Het
Scn2a T C 2: 65,764,483 V1892A probably benign Het
Sema6a G A 18: 47,248,826 R885C probably damaging Het
Sik2 T C 9: 50,895,845 H755R probably benign Het
Slc36a3 A T 11: 55,135,268 Y241* probably null Het
Smg5 T C 3: 88,351,618 probably benign Het
Spag9 A G 11: 94,114,253 T1049A probably benign Het
Tas2r103 T C 6: 133,036,945 M53V probably benign Het
Tpr C T 1: 150,423,541 A1090V probably damaging Het
Traf5 T A 1: 191,997,672 R473W probably damaging Het
Ush2a T C 1: 188,443,510 probably null Het
Vit A G 17: 78,546,426 T34A probably benign Het
Other mutations in B3gntl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:B3gntl1 APN 11 121670963 missense probably damaging 1.00
IGL01640:B3gntl1 APN 11 121673020 missense probably benign
IGL02609:B3gntl1 APN 11 121644601 splice site probably benign
R0370:B3gntl1 UTSW 11 121624154 missense probably damaging 1.00
R0394:B3gntl1 UTSW 11 121619715 missense probably damaging 1.00
R0469:B3gntl1 UTSW 11 121673025 missense probably benign
R0520:B3gntl1 UTSW 11 121623488 missense possibly damaging 0.89
R0541:B3gntl1 UTSW 11 121644604 splice site probably benign
R1460:B3gntl1 UTSW 11 121639798 missense probably damaging 1.00
R1600:B3gntl1 UTSW 11 121630836 missense probably damaging 1.00
R1961:B3gntl1 UTSW 11 121644525 critical splice donor site probably null
R4884:B3gntl1 UTSW 11 121629969 missense possibly damaging 0.83
R7387:B3gntl1 UTSW 11 121629915 missense possibly damaging 0.87
R7421:B3gntl1 UTSW 11 121624178 missense probably benign 0.18
R7506:B3gntl1 UTSW 11 121670914 missense probably damaging 1.00
R7654:B3gntl1 UTSW 11 121651613 missense probably damaging 1.00
R7715:B3gntl1 UTSW 11 121639796 missense possibly damaging 0.93
Z1177:B3gntl1 UTSW 11 121639814
Predicted Primers PCR Primer
(F):5'- GCTAATTAGATGCTAGCAACAACC -3'
(R):5'- ATATCATCACTGAACATGGACGTTG -3'

Sequencing Primer
(F):5'- TGCTAGCAACAACCTATTCAACTTG -3'
(R):5'- ACTGAACATGGACGTTGCTTTC -3'
Posted On2016-12-15