Incidental Mutation 'R6440:B3gnt9'
ID 518978
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 044578-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6440 (G1)
Quality Score 123.008
Status Validated
Chromosome 8
Chromosomal Location 105979270-105981785 bp(-) (GRCm39)
Type of Mutation splice site (423 bp from exon)
DNA Base Change (assembly) C to T at 105980531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034359] [ENSMUST00000034361] [ENSMUST00000093217] [ENSMUST00000124113] [ENSMUST00000136822] [ENSMUST00000141957] [ENSMUST00000161745]
AlphaFold Q8VI16
Predicted Effect probably null
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 damaging
Transcript: ENSMUST00000093217
AA Change: G286S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133023
Gene: ENSMUSG00000069920
AA Change: G286S

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 probably damaging
Transcript: ENSMUST00000136822
AA Change: G286S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130840
Gene: ENSMUSG00000069920
AA Change: G286S

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 probably null
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
Meta Mutation Damage Score 0.7839 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 98.1%
  • 20x: 93.7%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,101,744 (GRCm39) probably null Het
Adgrl3 C T 5: 81,942,341 (GRCm39) Q684* probably null Het
Ahi1 T A 10: 20,835,981 (GRCm39) probably benign Het
Aox1 A G 1: 58,133,631 (GRCm39) T1070A probably damaging Het
C3ar1 G T 6: 122,827,467 (GRCm39) A250E probably damaging Het
Caprin2 A G 6: 148,771,143 (GRCm39) F284L probably damaging Het
Cdc25a T C 9: 109,710,566 (GRCm39) I90T probably benign Het
Cdh9 A T 15: 16,823,509 (GRCm39) T164S probably benign Het
Ces2a C T 8: 105,467,954 (GRCm39) A528V probably benign Het
Cyp2c70 T C 19: 40,145,250 (GRCm39) N402S possibly damaging Het
F3 A G 3: 121,518,686 (GRCm39) E50G probably damaging Het
Fli1 A T 9: 32,335,197 (GRCm39) S412T probably benign Het
Flt1 T A 5: 147,501,115 (GRCm39) D1306V possibly damaging Het
Ggt7 T C 2: 155,340,731 (GRCm39) D424G probably damaging Het
Grm7 A T 6: 111,230,981 (GRCm39) N468I probably damaging Het
Htr5a T A 5: 28,055,870 (GRCm39) V287E probably damaging Het
Map3k21 T C 8: 126,637,876 (GRCm39) V154A probably damaging Het
Muc16 A G 9: 18,552,655 (GRCm39) V4546A probably benign Het
Ncbp1 A G 4: 46,147,516 (GRCm39) Y121C probably damaging Het
Nckap1l C A 15: 103,379,659 (GRCm39) Y315* probably null Het
Ntpcr T A 8: 126,471,981 (GRCm39) S64T probably damaging Het
Or1e1c A T 11: 73,266,173 (GRCm39) E202D probably benign Het
Or6c215 A G 10: 129,637,837 (GRCm39) S186P probably damaging Het
Or7e175 T C 9: 20,048,490 (GRCm39) F26S probably damaging Het
Pate9 T A 9: 36,453,168 (GRCm39) M1L probably benign Het
Pde4dip A G 3: 97,674,902 (GRCm39) C5R probably damaging Het
Pgap2 T A 7: 101,886,594 (GRCm39) probably null Het
Pik3r6 T C 11: 68,424,522 (GRCm39) W376R probably benign Het
Plekha2 T C 8: 25,578,413 (GRCm39) Y29C probably damaging Het
Pms1 T C 1: 53,234,180 (GRCm39) K779E probably damaging Het
Prss16 A G 13: 22,187,330 (GRCm39) V98A probably damaging Het
Robo2 C T 16: 73,713,010 (GRCm39) D1287N probably benign Het
Sgsm1 A G 5: 113,426,997 (GRCm39) probably null Het
Slc40a1 A T 1: 45,964,422 (GRCm39) M1K probably null Het
Smo A G 6: 29,756,813 (GRCm39) H437R possibly damaging Het
Sult3a1 T C 10: 33,746,198 (GRCm39) Y173H possibly damaging Het
Svep1 T A 4: 58,116,555 (GRCm39) R898S possibly damaging Het
Synpo2l A G 14: 20,718,244 (GRCm39) V7A probably damaging Het
Thsd1 C T 8: 22,748,569 (GRCm39) A427V possibly damaging Het
Tnfrsf17 G A 16: 11,137,754 (GRCm39) G164S probably benign Het
Zfp235 A G 7: 23,840,040 (GRCm39) K153R probably damaging Het
Other mutations in B3gnt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0687:B3gnt9 UTSW 8 105,981,415 (GRCm39) start gained probably benign
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
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 PCR Primer
(F):5'- TGTACTACCACCAGTTCTCGG -3'
(R):5'- TGTTCGTGCACGTGAGGAAC -3'

Sequencing Primer
(F):5'- CACCAGTTCTCGGTAGAAACAGG -3'
(R):5'- AGGAACCTGCTGCAGTTTC -3'
Posted On 2018-05-24