Incidental Mutation 'R0687:B3gnt9'
List |< first << previous [record 3 of 17] next >> last >|
ID261987
Institutional Source Beutler Lab
Gene Symbol B3gnt9
Ensembl Gene ENSMUSG00000069920
Gene NameUDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9
Synonyms
MMRRC Submission 038872-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #R0687 (G1)
Quality Score103
Status Not validated
Chromosome8
Chromosomal Location105252638-105255153 bp(-) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) T to A at 105254783 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034359] [ENSMUST00000034361] [ENSMUST00000093217] [ENSMUST00000124113] [ENSMUST00000136822] [ENSMUST00000141957] [ENSMUST00000144762] [ENSMUST00000161745]
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: 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 probably benign
Transcript: ENSMUST00000141957
SMART Domains Protein: ENSMUSP00000119148
Gene: ENSMUSG00000031889

DomainStartEndE-ValueType
Pfam:UPF0183 13 161 2.8e-65 PFAM
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
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 noncoding transcript
Transcript: ENSMUST00000156561
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
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
4931406P16Rik T G 7: 34,245,418 Q679P possibly damaging Het
Anxa10 T A 8: 62,092,572 D42V possibly damaging Het
Ccdc150 A T 1: 54,285,631 probably null Het
Fstl5 A G 3: 76,707,812 I727V possibly damaging Het
Nae1 C A 8: 104,513,244 R484L probably damaging Het
Nudt19 T A 7: 35,551,472 T281S probably benign Het
Osgin1 T A 8: 119,445,832 V455E probably damaging Het
Pcnx3 A T 19: 5,684,333 D655E probably damaging Het
Plch1 C T 3: 63,716,029 V617M probably damaging Het
Polk A T 13: 96,484,017 N579K probably damaging Het
Scube2 C A 7: 109,829,128 V513F possibly damaging Het
Skiv2l2 T C 13: 112,914,361 T227A probably damaging Het
Spen T C 4: 141,488,028 M498V unknown Het
Tm7sf3 T A 6: 146,621,890 N163I possibly damaging Het
Tmem144 G A 3: 79,839,273 probably benign Het
Usp24 A T 4: 106,420,504 K2277I probably damaging Het
Other mutations in B3gnt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1342:B3gnt9 UTSW 8 105254324 missense probably null 1.00
R2378:B3gnt9 UTSW 8 105254484 missense probably damaging 1.00
R4622:B3gnt9 UTSW 8 105253845 missense probably benign 0.04
R4931:B3gnt9 UTSW 8 105254244 missense probably benign
R5007:B3gnt9 UTSW 8 105254490 missense probably damaging 1.00
R6052:B3gnt9 UTSW 8 105254598 missense probably benign
R6440:B3gnt9 UTSW 8 105253899 unclassified probably null
R7159:B3gnt9 UTSW 8 105254432 missense probably damaging 1.00
R7558:B3gnt9 UTSW 8 105254672 missense probably benign 0.23
Predicted Primers
Posted On2015-02-04