Incidental Mutation 'IGL01479:Glt8d2'
ID88552
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: 0.147) question?
Stock #IGL01479
Quality Score
Status
Chromosome10
Chromosomal Location82650433-82690650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 82660736 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 163 (V163I)
Ref Sequence ENSEMBL: ENSMUSP00000020485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020485] [ENSMUST00000065815] [ENSMUST00000125505] [ENSMUST00000155529]
Predicted Effect probably damaging
Transcript: ENSMUST00000020485
AA Change: V163I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: V163I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Glyco_transf_8 54 326 3e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000065815
AA Change: V163I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
AA Change: V163I

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,272,935 K225R probably benign Het
Amn C A 12: 111,271,793 A47E probably damaging Het
Arhgef1 T C 7: 24,912,603 I137T probably benign Het
Cep57l1 T C 10: 41,728,639 K165E possibly damaging Het
Chfr A G 5: 110,144,993 probably benign Het
Dnah9 A G 11: 65,955,717 V2923A probably benign Het
Dnaja2 T C 8: 85,553,951 Y35C probably damaging Het
Dnajc2 T C 5: 21,757,893 T481A probably damaging Het
Foxred2 A G 15: 77,952,289 probably null Het
Gin1 C T 1: 97,792,372 T364I possibly damaging Het
Gm10118 T C 10: 63,926,820 probably benign Het
Hps5 C T 7: 46,762,942 probably null Het
Kdm4c A G 4: 74,343,501 K638E probably benign Het
L3mbtl2 A G 15: 81,676,392 T285A probably benign Het
Mab21l1 A G 3: 55,783,832 Y280C probably damaging Het
Mcoln2 T A 3: 146,175,652 probably benign Het
Myo9b G T 8: 71,359,342 R1926L probably damaging Het
Rrp12 A G 19: 41,865,202 V1251A probably benign Het
Rtn4rl1 A G 11: 75,265,342 D200G probably damaging Het
Sbsn G A 7: 30,752,357 A266T possibly damaging Het
Sgca A T 11: 94,963,378 C335* probably null Het
Spag1 T C 15: 36,233,199 probably benign Het
Sult6b1 A T 17: 78,905,576 V82D probably benign Het
Tigit T C 16: 43,659,522 T137A probably benign Het
Tmem125 G A 4: 118,541,623 Q204* probably null Het
Tmem59l C T 8: 70,486,098 R111Q probably benign Het
Vmn2r95 G A 17: 18,443,862 G448R probably damaging Het
Zfp64 T C 2: 168,951,679 H49R probably damaging Het
Other mutations in Glt8d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00686:Glt8d2 APN 10 82651513 missense possibly damaging 0.83
IGL00848:Glt8d2 APN 10 82662165 critical splice donor site probably null
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 On2013-11-18