Incidental Mutation 'IGL00468:Glt6d1'
ID7259
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glt6d1
Ensembl Gene ENSMUSG00000036401
Gene Nameglycosyltransferase 6 domain containing 1
Synonyms4933411C14Rik
Accession Numbers

Ncbi RefSeq: NM_001039095.1; MGI:1918353

Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL00468
Quality Score
Status
Chromosome2
Chromosomal Location25793859-25815848 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 25811029 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 36 (L36R)
Ref Sequence ENSEMBL: ENSMUSP00000048642 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038010]
Predicted Effect probably damaging
Transcript: ENSMUST00000038010
AA Change: L36R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401
AA Change: L36R

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:Glyco_transf_6 22 310 6.8e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130316
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,580,453 E123G probably damaging Het
Alpk2 A T 18: 65,305,823 L1300Q probably benign Het
Armc9 T C 1: 86,198,339 Y51H probably damaging Het
Bcl11b A G 12: 107,965,815 V166A possibly damaging Het
Cfap70 T A 14: 20,412,462 D565V possibly damaging Het
Cops5 C A 1: 10,034,070 G132W probably damaging Het
Dync1i1 G A 6: 5,972,135 V468M probably damaging Het
Fam126b T G 1: 58,530,232 E396A probably benign Het
Fasn A C 11: 120,820,539 D216E probably damaging Het
Fktn T A 4: 53,734,866 I168K probably benign Het
Gal3st2c A G 1: 94,009,049 R239G probably benign Het
Herc3 A G 6: 58,918,766 I1000V probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lhcgr C T 17: 88,742,446 V551I probably benign Het
Lmna G T 3: 88,484,684 S437R probably benign Het
Lrrc49 A G 9: 60,687,868 probably benign Het
Lrriq3 A G 3: 155,101,179 D155G probably damaging Het
Mcf2 G A X: 60,133,735 T104I probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep A G 14: 60,875,260 E664G probably benign Het
Mybpc1 A T 10: 88,549,262 V519D probably damaging Het
Nfil3 C A 13: 52,967,574 L431F probably damaging Het
Sctr T A 1: 120,044,720 V197E probably damaging Het
Sesn2 T C 4: 132,499,813 T103A probably benign Het
Sptbn4 A T 7: 27,417,965 V453D probably damaging Het
Supt5 A T 7: 28,315,382 H1023Q probably benign Het
Tcof1 T C 18: 60,814,568 probably benign Het
Tekt2 T A 4: 126,323,189 E262D possibly damaging Het
Tenm4 T A 7: 96,874,472 H1732Q probably damaging Het
Tln2 T C 9: 67,344,187 D840G possibly damaging Het
Tox4 A G 14: 52,285,745 D54G probably damaging Het
Other mutations in Glt6d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Glt6d1 APN 2 25794419 missense probably benign 0.02
IGL01734:Glt6d1 APN 2 25794493 missense probably benign 0.01
R0010:Glt6d1 UTSW 2 25794727 critical splice acceptor site probably null
R0010:Glt6d1 UTSW 2 25794727 critical splice acceptor site probably null
R0039:Glt6d1 UTSW 2 25794727 critical splice acceptor site probably null
R0079:Glt6d1 UTSW 2 25794727 critical splice acceptor site probably null
R0082:Glt6d1 UTSW 2 25794727 critical splice acceptor site probably null
R0197:Glt6d1 UTSW 2 25794070 missense probably benign
R0432:Glt6d1 UTSW 2 25794727 critical splice acceptor site probably null
R0525:Glt6d1 UTSW 2 25794268 missense possibly damaging 0.96
R1494:Glt6d1 UTSW 2 25794248 missense probably damaging 1.00
R1959:Glt6d1 UTSW 2 25794413 missense probably damaging 1.00
R3720:Glt6d1 UTSW 2 25795167 frame shift probably null
R4074:Glt6d1 UTSW 2 25794127 missense probably damaging 1.00
R5664:Glt6d1 UTSW 2 25814180 missense probably benign 0.03
R7075:Glt6d1 UTSW 2 25795280 missense probably benign 0.00
R7576:Glt6d1 UTSW 2 25814122 missense probably benign 0.39
Posted On2012-04-20