Incidental Mutation 'IGL03235:Glt28d2'
ID414018
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: 0.135) question?
Stock #IGL03235
Quality Score
Status
Chromosome3
Chromosomal Location85869849-85887516 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85871802 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 121 (H121Q)
Ref Sequence ENSEMBL: ENSMUSP00000033643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033643] [ENSMUST00000154148]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033643
AA Change: H121Q

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033643
Gene: ENSMUSG00000031286
AA Change: H121Q

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,341,384 N461S probably benign Het
Baz1a A T 12: 54,898,535 V1345E probably damaging Het
Ccdc60 T A 5: 116,131,146 M472L probably benign Het
Cenpf C T 1: 189,683,927 R67K probably damaging Het
Cfap45 A T 1: 172,538,493 R304S possibly damaging Het
D5Ertd579e T A 5: 36,618,828 probably benign Het
Eefsec T C 6: 88,376,375 D104G probably damaging Het
Eif2ak4 A G 2: 118,443,140 S849G probably damaging Het
Frem1 G A 4: 83,020,755 T30I possibly damaging Het
Hacl1 C T 14: 31,631,038 W106* probably null Het
March6 A G 15: 31,485,995 S376P probably damaging Het
Mkrn1 T C 6: 39,401,330 Y289C probably damaging Het
Msl2 A G 9: 101,100,768 T114A probably benign Het
Ntrk3 C A 7: 78,192,592 K829N probably damaging Het
Olfr32 A T 2: 90,139,070 V23E possibly damaging Het
Pcdhgc5 A T 18: 37,820,098 I142F probably damaging Het
Pip5kl1 A G 2: 32,578,154 R153G probably damaging Het
Rgs19 T C 2: 181,689,732 K93R probably benign Het
Slc36a4 T A 9: 15,723,549 V129E probably damaging Het
Spata13 T C 14: 60,751,792 L299P probably damaging Het
Tle2 T C 10: 81,586,251 S353P probably benign Het
Trav13-4-dv7 T C 14: 53,757,841 V84A probably benign Het
Vmn1r8 A T 6: 57,036,761 K266* probably null Het
Wwtr1 C A 3: 57,477,533 V255F probably benign Het
Other mutations in Glt28d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Glt28d2 APN 3 85871983 missense probably damaging 1.00
IGL02662:Glt28d2 APN 3 85872116 missense probably damaging 0.97
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 On2016-08-02