Incidental Mutation 'IGL01600:Glt28d2'
ID92137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glt28d2
Ensembl Gene ENSMUSG00000031286
Gene Nameglycosyltransferase 28 domain containing 2
Synonyms4732486J07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL01600
Quality Score
Status
Chromosome3
Chromosomal Location85869849-85887516 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85871983 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 61 (Y61C)
Ref Sequence ENSEMBL: ENSMUSP00000033643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033643] [ENSMUST00000154148]
Predicted Effect probably damaging
Transcript: ENSMUST00000033643
AA Change: Y61C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033643
Gene: ENSMUSG00000031286
AA Change: Y61C

DomainStartEndE-ValueType
Pfam:Glyco_tran_28_C 3 159 2.6e-31 PFAM
Pfam:Glyco_trans_1_3 4 137 5.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146862
Predicted Effect probably benign
Transcript: ENSMUST00000154148
SMART Domains Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

DomainStartEndE-ValueType
Arfaptin 1 227 7.15e-121 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b C A 8: 22,027,525 probably null Het
Ccr7 A G 11: 99,145,145 V317A probably benign Het
Dna2 T A 10: 62,950,806 I111K probably damaging Het
Egflam A G 15: 7,219,764 S858P probably damaging Het
Kbtbd12 C T 6: 88,618,558 A97T probably benign Het
Myh4 A G 11: 67,260,189 E1890G possibly damaging Het
Notch3 C A 17: 32,144,498 G1197V probably damaging Het
Olfr1257 A T 2: 89,881,662 M279L probably benign Het
Pcdh10 A T 3: 45,379,487 I79L probably damaging Het
Runx1t1 T A 4: 13,841,871 V181D probably damaging Het
Snx25 A T 8: 46,116,310 D183E probably benign Het
Srsf11 G A 3: 158,019,442 probably benign Het
Tox A G 4: 6,697,585 V406A probably damaging Het
Vmn2r68 T A 7: 85,222,260 H605L probably benign Het
Other mutations in Glt28d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02662:Glt28d2 APN 3 85872116 missense probably damaging 0.97
IGL03235:Glt28d2 APN 3 85871802 missense possibly damaging 0.94
R0579:Glt28d2 UTSW 3 85872133 missense probably damaging 1.00
R4326:Glt28d2 UTSW 3 85872086 nonsense probably null
R6170:Glt28d2 UTSW 3 85871941 missense possibly damaging 0.89
R6798:Glt28d2 UTSW 3 85871989 missense probably benign 0.00
Posted On2013-12-09