Incidental Mutation 'R9578:B3gnt8'
ID 722410
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R9578 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 25327025-25328917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25328089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 173 (L173P)
Ref Sequence ENSEMBL: ENSMUSP00000092277 (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 damaging
Transcript: ENSMUST00000076034
AA Change: L173P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092277
Gene: ENSMUSG00000059479
AA Change: L173P

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 damaging
Transcript: ENSMUST00000206940
AA Change: L173P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik G A 8: 106,436,505 (GRCm39) G234S probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Aldh8a1 A G 10: 21,253,281 (GRCm39) I14M probably damaging Het
Arhgap11a A G 2: 113,670,125 (GRCm39) S333P possibly damaging Het
Atp1b3 A T 9: 96,220,754 (GRCm39) D180E probably benign Het
Cabin1 A G 10: 75,590,185 (GRCm39) F37S probably damaging Het
Carmil3 G T 14: 55,741,293 (GRCm39) probably null Het
Cfi G T 3: 129,659,024 (GRCm39) M327I probably benign Het
Cltc G A 11: 86,593,237 (GRCm39) S1542F probably benign Het
Col7a1 G A 9: 108,789,350 (GRCm39) G854D unknown Het
Cux1 A T 5: 136,282,919 (GRCm39) probably null Het
Dcdc2c G T 12: 28,602,234 (GRCm39) N23K probably damaging Het
Dclre1a A G 19: 56,528,734 (GRCm39) I807T probably damaging Het
Dnah14 T C 1: 181,502,007 (GRCm39) F1770L probably benign Het
Dnajc13 A G 9: 104,115,726 (GRCm39) F28L probably benign Het
Dtna A G 18: 23,728,612 (GRCm39) D269G probably damaging Het
Dusp4 G T 8: 35,274,822 (GRCm39) probably benign Het
Ece1 T C 4: 137,641,133 (GRCm39) S19P probably benign Het
Gas1 T C 13: 60,323,905 (GRCm39) D243G possibly damaging Het
Ggnbp2 A G 11: 84,744,989 (GRCm39) C178R probably benign Het
Gm12185 T A 11: 48,806,408 (GRCm39) N261I probably benign Het
Grm4 A T 17: 27,669,183 (GRCm39) F362I possibly damaging Het
Icos T A 1: 61,032,871 (GRCm39) N23K probably benign Het
Kcnk2 CAAA CAA 1: 188,988,891 (GRCm39) probably null Het
Krt5 T C 15: 101,620,153 (GRCm39) K188R probably damaging Het
Mindy3 C T 2: 12,361,715 (GRCm39) probably null Het
Ncdn C T 4: 126,645,795 (GRCm39) R38H probably damaging Het
Nol9 A G 4: 152,125,706 (GRCm39) K219R probably benign Het
Opalin A T 19: 41,060,668 (GRCm39) S2R probably damaging Het
Or8g35 A T 9: 39,381,201 (GRCm39) S274T probably damaging Het
Pask G A 1: 93,263,390 (GRCm39) S122L probably benign Het
Pcdha11 T C 18: 37,140,176 (GRCm39) S602P probably damaging Het
Pclo A G 5: 14,816,753 (GRCm39) K1271R Het
Piezo1 T C 8: 123,224,214 (GRCm39) H763R Het
Pigr A G 1: 130,777,350 (GRCm39) K719E probably benign Het
Piwil4 A T 9: 14,638,790 (GRCm39) V245E probably damaging Het
Plcb4 A G 2: 135,829,444 (GRCm39) M925V probably benign Het
Pomt1 G A 2: 32,133,543 (GRCm39) probably null Het
Pou2f2 C A 7: 24,796,569 (GRCm39) A302S probably benign Het
Rapgef4 A T 2: 72,026,052 (GRCm39) H359L probably damaging Het
Rfesd C T 13: 76,156,299 (GRCm39) V36I possibly damaging Het
Rims1 G A 1: 22,523,823 (GRCm39) T421M probably damaging Het
Serpinf2 T A 11: 75,327,615 (GRCm39) H150L probably benign Het
Syt10 A T 15: 89,675,122 (GRCm39) M408K possibly damaging Het
Tcea1 T A 1: 4,961,021 (GRCm39) probably null Het
Tia1 T C 6: 86,407,347 (GRCm39) *387R probably null Het
Top3a A C 11: 60,647,517 (GRCm39) V186G probably damaging Het
Upk3b T A 5: 136,067,736 (GRCm39) S27R unknown Het
Usp18 A G 6: 121,239,726 (GRCm39) S274G probably benign Het
Vmn1r230 C A 17: 21,067,163 (GRCm39) C117* probably null Het
Vmn1r72 T C 7: 11,404,347 (GRCm39) I34V probably benign Het
Vmn2r74 T C 7: 85,606,101 (GRCm39) D415G probably benign Het
Zfp54 A G 17: 21,655,186 (GRCm39) Y560C 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
R6879:B3gnt8 UTSW 7 25,328,277 (GRCm39) missense probably benign 0.30
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
Z1088:B3gnt8 UTSW 7 25,327,575 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCGGAGATCTTGGACTTCATC -3'
(R):5'- AATTGACATCGGGGCAGTGG -3'

Sequencing Primer
(F):5'- TGTACCCCCAGGAGCTTC -3'
(R):5'- GGCAGTGGTGGCTCAGC -3'
Posted On 2022-08-09