Incidental Mutation 'R6879:B3gnt8'
ID 536556
Institutional Source Beutler Lab
Gene Symbol B3gnt8
Ensembl Gene ENSMUSG00000059479
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
Synonyms B3galt7
MMRRC Submission 044975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6879 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 25327025-25328917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25328277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 236 (Q236K)
Ref Sequence ENSEMBL: ENSMUSP00000145797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000076034] [ENSMUST00000077338] [ENSMUST00000085953] [ENSMUST00000126925] [ENSMUST00000205281] [ENSMUST00000205808] [ENSMUST00000206940]
AlphaFold Q8R3I9
Predicted Effect probably benign
Transcript: ENSMUST00000071329
SMART Domains Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376

DomainStartEndE-ValueType
low complexity region 14 36 N/A INTRINSIC
Pfam:E1_dh 107 407 2.9e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076034
AA Change: Q236K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000092277
Gene: ENSMUSG00000059479
AA Change: Q236K

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
Pfam:Galactosyl_T 154 344 2.9e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077338
SMART Domains Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 82 213 2e-10 PDB
SCOP:d1fqva2 109 209 2e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085953
SMART Domains Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229

DomainStartEndE-ValueType
PDB:3E4G|A 81 212 3e-10 PDB
SCOP:d1fqva2 108 208 3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126925
Predicted Effect probably benign
Transcript: ENSMUST00000205281
Predicted Effect probably benign
Transcript: ENSMUST00000205808
Predicted Effect probably benign
Transcript: ENSMUST00000206940
AA Change: Q236K

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 A G 10: 80,442,621 (GRCm39) D153G probably damaging Het
Agap1 A T 1: 89,694,177 (GRCm39) I492F probably benign Het
Arhgap31 G A 16: 38,422,676 (GRCm39) T1130I probably benign Het
Atg2a T A 19: 6,301,882 (GRCm39) C923S possibly damaging Het
Bptf T G 11: 106,933,516 (GRCm39) I261L probably benign Het
Cacna1s T C 1: 136,043,697 (GRCm39) F1592S probably benign Het
Catspere2 A T 1: 177,926,338 (GRCm39) T335S possibly damaging Het
Cops7a A T 6: 124,935,748 (GRCm39) probably null Het
Defb10 A G 8: 22,351,898 (GRCm39) I48V probably benign Het
Gabrg3 A C 7: 57,031,387 (GRCm39) L51R probably damaging Het
Gins2 G A 8: 121,312,850 (GRCm39) T96M probably damaging Het
Gm11568 A G 11: 99,749,053 (GRCm39) Q86R unknown Het
Il33 T C 19: 29,936,362 (GRCm39) V224A probably damaging Het
Kcnh3 C A 15: 99,136,048 (GRCm39) Q682K probably damaging Het
Kif19a A G 11: 114,672,159 (GRCm39) I249V probably benign Het
Kif26a T C 12: 112,144,087 (GRCm39) V1447A probably benign Het
Klhdc10 T A 6: 30,449,589 (GRCm39) M217K probably damaging Het
Mcc T C 18: 44,945,179 (GRCm39) S18G unknown Het
Mical1 A T 10: 41,360,515 (GRCm39) Q651H probably damaging Het
Mpdz G A 4: 81,266,893 (GRCm39) T340I possibly damaging Het
Or5b95 T C 19: 12,658,135 (GRCm39) I221T probably benign Het
Or6c202 T G 10: 128,996,848 (GRCm39) K2Q probably benign Het
Pira12 A T 7: 3,899,961 (GRCm39) S214T probably benign Het
Plekha6 A T 1: 133,187,793 (GRCm39) M105L possibly damaging Het
Ppp4r4 T A 12: 103,518,179 (GRCm39) probably null Het
Samd12 T C 15: 53,521,826 (GRCm39) N128S probably benign Het
Six6 A G 12: 72,987,298 (GRCm39) K157E probably benign Het
Slc13a3 C A 2: 165,272,221 (GRCm39) G274V probably damaging Het
Slc25a54 T A 3: 109,020,150 (GRCm39) V388E possibly damaging Het
Smad2 A G 18: 76,395,725 (GRCm39) T55A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,071,293 (GRCm39) V39A probably damaging Het
Stk32b A G 5: 37,647,867 (GRCm39) I167T possibly damaging Het
Taf1b T A 12: 24,550,516 (GRCm39) C34S possibly damaging Het
Tex2 T C 11: 106,424,836 (GRCm39) E812G unknown Het
Tlcd2 T A 11: 75,360,514 (GRCm39) W186R probably damaging Het
Txn2 G A 15: 77,803,922 (GRCm39) probably benign Het
Uggt2 T C 14: 119,239,271 (GRCm39) K1387R probably benign Het
Unc79 T A 12: 103,115,046 (GRCm39) probably null Het
Usp21 T C 1: 171,110,077 (GRCm39) D538G probably damaging Het
Zfp109 C T 7: 23,928,615 (GRCm39) E265K probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging Het
Other mutations in B3gnt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01788:B3gnt8 APN 7 25,328,613 (GRCm39) missense probably damaging 0.99
IGL01998:B3gnt8 APN 7 25,328,203 (GRCm39) missense probably damaging 0.99
R1086:B3gnt8 UTSW 7 25,327,736 (GRCm39) missense probably damaging 1.00
R1826:B3gnt8 UTSW 7 25,328,188 (GRCm39) missense probably damaging 1.00
R2197:B3gnt8 UTSW 7 25,328,373 (GRCm39) missense probably benign 0.33
R4916:B3gnt8 UTSW 7 25,328,308 (GRCm39) missense probably damaging 0.96
R5294:B3gnt8 UTSW 7 25,328,191 (GRCm39) missense probably damaging 1.00
R7287:B3gnt8 UTSW 7 25,328,395 (GRCm39) missense probably damaging 0.99
R7632:B3gnt8 UTSW 7 25,327,860 (GRCm39) missense possibly damaging 0.84
R8903:B3gnt8 UTSW 7 25,328,659 (GRCm39) missense probably benign
R9239:B3gnt8 UTSW 7 25,327,676 (GRCm39) frame shift probably null
R9578:B3gnt8 UTSW 7 25,328,089 (GRCm39) missense probably damaging 0.99
Z1088:B3gnt8 UTSW 7 25,327,575 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCAGGACACTTTGCAGCAC -3'
(R):5'- TGGATAGTCCCCTTCAAAGAAG -3'

Sequencing Primer
(F):5'- ACACTTTGCAGCACGGCAG -3'
(R):5'- TTCAAAGAAGGTCTTCGGCAC -3'
Posted On 2018-10-18