Incidental Mutation 'IGL00848:Glt8d2'
ID10980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glt8d2
Ensembl Gene ENSMUSG00000020251
Gene Nameglycosyltransferase 8 domain containing 2
Synonyms1110021D20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL00848
Quality Score
Status
Chromosome10
Chromosomal Location82650433-82690650 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 82662165 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020485] [ENSMUST00000065815] [ENSMUST00000125505] [ENSMUST00000155529]
Predicted Effect probably null
Transcript: ENSMUST00000020485
SMART Domains Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Glyco_transf_8 54 326 3e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000065815
SMART Domains Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251

DomainStartEndE-ValueType
low complexity region 6 25 N/A INTRINSIC
Pfam:Glyco_transf_8 54 312 2.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125505
Predicted Effect probably benign
Transcript: ENSMUST00000155529
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice show reduced viability and a decreased serum immunoglobulin response to antigen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Rps11 C T 7: 45,123,501 R22Q probably benign Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging Het
Other mutations in Glt8d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00686:Glt8d2 APN 10 82651513 missense possibly damaging 0.83
IGL01479:Glt8d2 APN 10 82660736 missense probably damaging 1.00
IGL03185:Glt8d2 APN 10 82662276 missense probably damaging 1.00
vitus UTSW 10 82664713 missense possibly damaging 0.54
R0139:Glt8d2 UTSW 10 82660810 missense probably damaging 1.00
R0255:Glt8d2 UTSW 10 82651527 unclassified probably null
R0464:Glt8d2 UTSW 10 82654730 missense possibly damaging 0.81
R0483:Glt8d2 UTSW 10 82662153 unclassified probably benign
R0789:Glt8d2 UTSW 10 82664685 missense probably damaging 1.00
R1496:Glt8d2 UTSW 10 82659538 missense probably damaging 0.98
R1930:Glt8d2 UTSW 10 82664642 missense probably benign 0.00
R3715:Glt8d2 UTSW 10 82652737 missense probably benign 0.00
R4493:Glt8d2 UTSW 10 82664713 missense possibly damaging 0.54
R4707:Glt8d2 UTSW 10 82660749 missense probably damaging 1.00
R4785:Glt8d2 UTSW 10 82660749 missense probably damaging 1.00
R4886:Glt8d2 UTSW 10 82652040 unclassified probably benign
R5420:Glt8d2 UTSW 10 82652682 missense probably benign 0.02
R5485:Glt8d2 UTSW 10 82651448 missense possibly damaging 0.79
R5859:Glt8d2 UTSW 10 82672081 start codon destroyed probably null
R6416:Glt8d2 UTSW 10 82652906 missense probably damaging 1.00
Posted On2012-12-06