Incidental Mutation 'IGL01788:B3gnt8'
ID 155120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gnt8
Ensembl Gene ENSMUSG00000059479
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8
Synonyms B3galt7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01788
Quality Score
Status
Chromosome 7
Chromosomal Location 25327025-25328917 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25328613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 348 (T348A)
Ref Sequence ENSEMBL: ENSMUSP00000145797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071329] [ENSMUST00000076034] [ENSMUST00000077338] [ENSMUST00000085953] [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: T348A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092277
Gene: ENSMUSG00000059479
AA Change: T348A

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: ENSMUST00000205281
Predicted Effect probably benign
Transcript: ENSMUST00000205808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206824
Predicted Effect probably damaging
Transcript: ENSMUST00000206940
AA Change: T348A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T G 11: 50,982,542 (GRCm39) noncoding transcript Het
Acp6 A G 3: 97,073,198 (GRCm39) T80A probably damaging Het
Adamtsl5 T C 10: 80,180,757 (GRCm39) T102A probably benign Het
Adcy6 C A 15: 98,494,400 (GRCm39) E812* probably null Het
Apol6 G A 15: 76,935,216 (GRCm39) V162I possibly damaging Het
Atp6v1h T A 1: 5,220,206 (GRCm39) M396K possibly damaging Het
Cgnl1 A G 9: 71,562,672 (GRCm39) V869A probably benign Het
Dcaf5 A T 12: 80,395,098 (GRCm39) I357N probably damaging Het
Dennd4a A G 9: 64,749,903 (GRCm39) I165V probably benign Het
Dlgap2 T A 8: 14,893,631 (GRCm39) I982K probably benign Het
Dop1a A T 9: 86,413,772 (GRCm39) H1891L probably benign Het
Fhad1 A C 4: 141,660,113 (GRCm39) S65R probably benign Het
Fn1 A G 1: 71,652,996 (GRCm39) I1331T probably damaging Het
Fto A T 8: 92,136,359 (GRCm39) Y211F probably benign Het
Gm3278 A C 14: 16,080,370 (GRCm39) R60S probably benign Het
Ifna9 A G 4: 88,510,097 (GRCm39) S176P probably damaging Het
Klk1 T C 7: 43,878,407 (GRCm39) I189T probably benign Het
Mcph1 G A 8: 18,682,419 (GRCm39) G519R probably damaging Het
Mcph1 G A 8: 18,682,420 (GRCm39) G519E probably damaging Het
N4bp1 A T 8: 87,587,624 (GRCm39) V438E probably benign Het
Ncapg T A 5: 45,828,423 (GRCm39) V58E probably damaging Het
Nid2 T A 14: 19,858,047 (GRCm39) S1054T probably damaging Het
Nlrp4a A T 7: 26,153,492 (GRCm39) Y681F probably benign Het
Or4f57 T C 2: 111,791,352 (GRCm39) D22G probably benign Het
Or4k15c A G 14: 50,321,959 (GRCm39) Y60H probably damaging Het
Or52e19b C A 7: 103,032,770 (GRCm39) M146I probably benign Het
Or5b94 G A 19: 12,652,442 (GRCm39) R291K probably damaging Het
Papln A T 12: 83,822,236 (GRCm39) T364S probably benign Het
Pcdh18 C A 3: 49,710,371 (GRCm39) E315* probably null Het
Pmel G A 10: 128,553,701 (GRCm39) R445Q probably damaging Het
Ppp1r12b C T 1: 134,821,245 (GRCm39) V182I possibly damaging Het
Ptprn2 A G 12: 116,864,607 (GRCm39) T541A probably damaging Het
Rbl1 A T 2: 157,005,576 (GRCm39) N813K probably benign Het
Sash1 C A 10: 8,609,410 (GRCm39) R713L probably benign Het
Slc13a1 T G 6: 24,134,371 (GRCm39) T171P probably damaging Het
Slc18b1 G T 10: 23,701,899 (GRCm39) E407D probably damaging Het
Slc2a6 G A 2: 26,914,227 (GRCm39) Q297* probably null Het
Vmn1r209 T C 13: 22,989,832 (GRCm39) H286R probably damaging Het
Vmn1r28 C A 6: 58,242,522 (GRCm39) H122N probably benign Het
Wfs1 A G 5: 37,125,980 (GRCm39) Y304H probably benign Het
Zfp512b A G 2: 181,230,556 (GRCm39) S445P possibly damaging Het
Other mutations in B3gnt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-02-04