Incidental Mutation 'R0687:B3gnt9'
ID 261987
Institutional Source Beutler Lab
Gene Symbol B3gnt9
Ensembl Gene ENSMUSG00000069920
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9
Synonyms B3gnt9-ps
MMRRC Submission 038872-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R0687 (G1)
Quality Score 103
Status Not validated
Chromosome 8
Chromosomal Location 105979270-105981785 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 105981415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034359] [ENSMUST00000034361] [ENSMUST00000093217] [ENSMUST00000124113] [ENSMUST00000161745] [ENSMUST00000136822] [ENSMUST00000141957] [ENSMUST00000144762]
AlphaFold Q8VI16
Predicted Effect probably benign
Transcript: ENSMUST00000034359
SMART Domains Protein: ENSMUSP00000034359
Gene: ENSMUSG00000031887

DomainStartEndE-ValueType
Pfam:TRADD_N 51 161 2.9e-49 PFAM
DEATH 203 303 1.14e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034361
SMART Domains Protein: ENSMUSP00000034361
Gene: ENSMUSG00000031889

DomainStartEndE-ValueType
Pfam:UPF0183 15 407 1.7e-161 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093217
SMART Domains Protein: ENSMUSP00000133023
Gene: ENSMUSG00000069920

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Pfam:Galactosyl_T 132 331 1e-40 PFAM
Pfam:Fringe 212 335 3.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124113
SMART Domains Protein: ENSMUSP00000119743
Gene: ENSMUSG00000031889

DomainStartEndE-ValueType
Pfam:UPF0183 13 120 1.9e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136239
Predicted Effect probably benign
Transcript: ENSMUST00000161745
SMART Domains Protein: ENSMUSP00000125145
Gene: ENSMUSG00000069920

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136822
SMART Domains Protein: ENSMUSP00000130840
Gene: ENSMUSG00000069920

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
Pfam:Galactosyl_T 132 331 1e-40 PFAM
Pfam:Fringe 212 335 3.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156561
Predicted Effect probably benign
Transcript: ENSMUST00000141957
SMART Domains Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889

DomainStartEndE-ValueType
Pfam:UPF0183 13 161 2.8e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147670
SMART Domains Protein: ENSMUSP00000115535
Gene: ENSMUSG00000031887

DomainStartEndE-ValueType
PDB:1F2H|A 1 56 6e-23 PDB
SCOP:d1f3va_ 8 50 1e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144762
SMART Domains Protein: ENSMUSP00000119174
Gene: ENSMUSG00000031887

DomainStartEndE-ValueType
PDB:1F2H|A 1 50 7e-23 PDB
SCOP:d1f3va_ 8 50 4e-24 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa10 T A 8: 62,545,606 (GRCm39) D42V possibly damaging Het
Ccdc150 A T 1: 54,324,790 (GRCm39) probably null Het
Fstl5 A G 3: 76,615,119 (GRCm39) I727V possibly damaging Het
Garre1 T G 7: 33,944,843 (GRCm39) Q679P possibly damaging Het
Mtrex T C 13: 113,050,895 (GRCm39) T227A probably damaging Het
Nae1 C A 8: 105,239,876 (GRCm39) R484L probably damaging Het
Nudt19 T A 7: 35,250,897 (GRCm39) T281S probably benign Het
Osgin1 T A 8: 120,172,571 (GRCm39) V455E probably damaging Het
Pcnx3 A T 19: 5,734,361 (GRCm39) D655E probably damaging Het
Plch1 C T 3: 63,623,450 (GRCm39) V617M probably damaging Het
Polk A T 13: 96,620,525 (GRCm39) N579K probably damaging Het
Scube2 C A 7: 109,428,335 (GRCm39) V513F possibly damaging Het
Spen T C 4: 141,215,339 (GRCm39) M498V unknown Het
Tm7sf3 T A 6: 146,523,388 (GRCm39) N163I possibly damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Usp24 A T 4: 106,277,701 (GRCm39) K2277I probably damaging Het
Other mutations in B3gnt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1342:B3gnt9 UTSW 8 105,980,956 (GRCm39) missense probably null 1.00
R2378:B3gnt9 UTSW 8 105,981,116 (GRCm39) missense probably damaging 1.00
R4622:B3gnt9 UTSW 8 105,980,477 (GRCm39) missense probably benign 0.04
R4931:B3gnt9 UTSW 8 105,980,876 (GRCm39) missense probably benign
R5007:B3gnt9 UTSW 8 105,981,122 (GRCm39) missense probably damaging 1.00
R6052:B3gnt9 UTSW 8 105,981,230 (GRCm39) missense probably benign
R6440:B3gnt9 UTSW 8 105,980,531 (GRCm39) splice site probably null
R7159:B3gnt9 UTSW 8 105,981,064 (GRCm39) missense probably damaging 1.00
R7558:B3gnt9 UTSW 8 105,981,304 (GRCm39) missense probably benign 0.23
R8341:B3gnt9 UTSW 8 105,980,497 (GRCm39) missense probably benign 0.02
R9568:B3gnt9 UTSW 8 105,980,203 (GRCm39) missense probably damaging 1.00
R9652:B3gnt9 UTSW 8 105,981,129 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-04