Incidental Mutation 'IGL02662:Glt28d2'
ID 302589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glt28d2
Ensembl Gene ENSMUSG00000031286
Gene Name glycosyltransferase 28 domain containing 2
Synonyms 4732486J07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # IGL02662
Quality Score
Status
Chromosome 3
Chromosomal Location 85777156-85794823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85779423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 17 (I17F)
Ref Sequence ENSEMBL: ENSMUSP00000033643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033643] [ENSMUST00000154148]
AlphaFold Q8BML3
Predicted Effect probably damaging
Transcript: ENSMUST00000033643
AA Change: I17F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033643
Gene: ENSMUSG00000031286
AA Change: I17F

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A G 15: 64,618,744 (GRCm39) probably null Het
Ap5z1 G A 5: 142,462,644 (GRCm39) probably null Het
Cdhr5 T G 7: 140,854,416 (GRCm39) I120L possibly damaging Het
Chd5 C T 4: 152,456,588 (GRCm39) S975F probably damaging Het
Cts3 G T 13: 61,715,871 (GRCm39) Q132K probably damaging Het
Cylc2 T A 4: 51,216,698 (GRCm39) probably benign Het
Defb39 A G 8: 19,102,891 (GRCm39) V68A probably benign Het
Dgki A G 6: 36,839,421 (GRCm39) probably benign Het
Dhtkd1 G A 2: 5,904,783 (GRCm39) P867L probably damaging Het
Gata5 C T 2: 179,969,544 (GRCm39) probably benign Het
Gstm2 T C 3: 107,892,378 (GRCm39) Y82C possibly damaging Het
Hs6st1 T A 1: 36,142,893 (GRCm39) L276* probably null Het
Iqgap1 T C 7: 80,392,827 (GRCm39) D712G probably benign Het
Kdm4c T C 4: 74,323,058 (GRCm39) S997P probably damaging Het
Ksr1 G A 11: 78,927,551 (GRCm39) T289I probably damaging Het
Lingo4 T C 3: 94,309,124 (GRCm39) probably benign Het
Ncapd2 A G 6: 125,153,694 (GRCm39) S674P probably damaging Het
Nek1 G A 8: 61,557,218 (GRCm39) V841I probably benign Het
Or10a48 T C 7: 108,424,952 (GRCm39) T85A probably benign Het
Or8i2 T C 2: 86,852,346 (GRCm39) T181A probably benign Het
Pigx A G 16: 31,906,201 (GRCm39) V40A probably damaging Het
Pla2g2d T G 4: 138,506,006 (GRCm39) M5R possibly damaging Het
Ppa2 G T 3: 133,073,644 (GRCm39) R234I probably damaging Het
Rbms1 A C 2: 60,592,650 (GRCm39) L221R probably damaging Het
Rnasel C A 1: 153,629,857 (GRCm39) N124K probably damaging Het
Serpinb9h A G 13: 33,588,513 (GRCm39) N366S possibly damaging Het
Sigirr T A 7: 140,674,707 (GRCm39) probably benign Het
Tas2r136 A T 6: 132,754,671 (GRCm39) V152E probably damaging Het
Tlnrd1 C T 7: 83,532,027 (GRCm39) V135M possibly damaging Het
Tlnrd1 A G 7: 83,531,744 (GRCm39) L229S probably damaging Het
Top1mt A G 15: 75,540,554 (GRCm39) V239A probably damaging Het
Tpd52 A T 3: 9,009,775 (GRCm39) probably null Het
Trim16 T A 11: 62,731,383 (GRCm39) L331Q possibly damaging Het
Ttll4 A G 1: 74,726,390 (GRCm39) probably null Het
Vmn1r27 T A 6: 58,192,272 (GRCm39) D244V probably damaging Het
Vmn2r72 A C 7: 85,387,391 (GRCm39) D724E probably benign Het
Zfp563 T C 17: 33,321,253 (GRCm39) W18R probably damaging Het
Zswim8 T C 14: 20,763,142 (GRCm39) V347A probably benign Het
Other mutations in Glt28d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Glt28d2 APN 3 85,779,290 (GRCm39) missense probably damaging 1.00
IGL03235:Glt28d2 APN 3 85,779,109 (GRCm39) missense possibly damaging 0.94
R0579:Glt28d2 UTSW 3 85,779,440 (GRCm39) missense probably damaging 1.00
R4326:Glt28d2 UTSW 3 85,779,393 (GRCm39) nonsense probably null
R6170:Glt28d2 UTSW 3 85,779,248 (GRCm39) missense possibly damaging 0.89
R6798:Glt28d2 UTSW 3 85,779,296 (GRCm39) missense probably benign 0.00
R8853:Glt28d2 UTSW 3 85,779,087 (GRCm39) missense probably benign
R8890:Glt28d2 UTSW 3 85,779,359 (GRCm39) missense possibly damaging 0.64
R9632:Glt28d2 UTSW 3 85,779,059 (GRCm39) missense probably benign 0.13
R9710:Glt28d2 UTSW 3 85,779,059 (GRCm39) missense probably benign 0.13
Posted On 2015-04-16