Incidental Mutation 'R3715:Glt8d2'
ID259862
Institutional Source Beutler Lab
Gene Symbol Glt8d2
Ensembl Gene ENSMUSG00000020251
Gene Nameglycosyltransferase 8 domain containing 2
Synonyms1110021D20Rik
MMRRC Submission 040708-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #R3715 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location82650433-82690650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 82652737 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 300 (A300S)
Ref Sequence ENSEMBL: ENSMUSP00000069188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020485] [ENSMUST00000065815] [ENSMUST00000092266] [ENSMUST00000125505] [ENSMUST00000151390] [ENSMUST00000177353]
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000065815
AA Change: A300S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
AA Change: A300S

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: ENSMUST00000092266
SMART Domains Protein: ENSMUSP00000089917
Gene: ENSMUSG00000034674

DomainStartEndE-ValueType
internal_repeat_1 3 21 1.82e-5 PROSPERO
internal_repeat_1 18 36 1.82e-5 PROSPERO
low complexity region 39 57 N/A INTRINSIC
low complexity region 63 84 N/A INTRINSIC
UDG 112 278 2.03e0 SMART
UreE_C 112 278 2.03e0 SMART
low complexity region 324 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142658
Predicted Effect probably benign
Transcript: ENSMUST00000150269
Predicted Effect probably benign
Transcript: ENSMUST00000151390
SMART Domains Protein: ENSMUSP00000121000
Gene: ENSMUSG00000034674

DomainStartEndE-ValueType
internal_repeat_1 23 45 8.83e-7 PROSPERO
internal_repeat_1 38 60 8.83e-7 PROSPERO
low complexity region 63 81 N/A INTRINSIC
low complexity region 87 108 N/A INTRINSIC
UDG 136 302 1.6e-4 SMART
UreE_C 136 302 1.6e-4 SMART
low complexity region 348 359 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176195
Predicted Effect probably benign
Transcript: ENSMUST00000176326
SMART Domains Protein: ENSMUSP00000135009
Gene: ENSMUSG00000034674

DomainStartEndE-ValueType
Blast:UreE_C 2 78 9e-50 BLAST
SCOP:d1muga_ 2 83 2e-10 SMART
PDB:2D07|A 2 123 9e-85 PDB
low complexity region 124 135 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177353
SMART Domains Protein: ENSMUSP00000135621
Gene: ENSMUSG00000034674

DomainStartEndE-ValueType
UDG 28 185 9.44e0 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T C 16: 88,627,193 M137V probably benign Het
9930111J21Rik1 T C 11: 48,947,976 T595A possibly damaging Het
Aaas T C 15: 102,340,336 I236V probably benign Het
Abcd4 C T 12: 84,611,759 M223I probably benign Het
Adamtsl1 T A 4: 86,216,976 I246N probably benign Het
AI413582 G A 17: 27,566,069 probably benign Het
Ak9 A G 10: 41,357,512 D582G probably damaging Het
Aqr A G 2: 114,118,669 probably benign Het
Arntl2 A G 6: 146,822,689 K360E probably damaging Het
Cacna2d3 T C 14: 29,346,923 I282M probably damaging Het
Cers3 G T 7: 66,786,075 A261S probably benign Het
Dexi A T 16: 10,542,689 M1K probably null Het
Dlat A G 9: 50,638,054 V510A probably damaging Het
Eaf1 T C 14: 31,502,445 I173T possibly damaging Het
Elavl3 G T 9: 22,018,599 D336E probably benign Het
Epm2a A G 10: 11,343,676 Y69C probably benign Het
Fam168a A G 7: 100,824,225 N107S probably damaging Het
Fam43b G C 4: 138,395,098 R304G probably benign Het
Fras1 T C 5: 96,645,970 probably null Het
Fscn3 C T 6: 28,428,092 T26I possibly damaging Het
Hcn4 G A 9: 58,844,036 R315H unknown Het
Lipk A G 19: 34,040,429 N289S probably damaging Het
Lyg1 G T 1: 37,950,678 R43S probably damaging Het
March6 A G 15: 31,465,259 L833P probably benign Het
Mc4r T A 18: 66,859,821 N74Y probably damaging Het
Med17 G A 9: 15,263,766 probably benign Het
Mink1 G T 11: 70,608,950 R773L possibly damaging Het
Myo15 A T 11: 60,479,231 E939V possibly damaging Het
Ndst4 A T 3: 125,561,505 H354L possibly damaging Het
Olfr1184 C A 2: 88,487,443 T237N probably damaging Het
Olfr1211 A G 2: 88,929,413 W301R probably benign Het
Olfr1395 T C 11: 49,148,815 L186P probably damaging Het
Otof T A 5: 30,376,871 K1397* probably null Het
Rangap1 C A 15: 81,710,460 E389D probably benign Het
Rbfox2 A G 15: 77,099,251 I270T probably damaging Het
Rnf217 G T 10: 31,534,732 C322* probably null Het
Sbk1 A G 7: 126,290,011 T50A probably benign Het
Shmt1 T C 11: 60,797,576 T248A probably damaging Het
Sox30 C T 11: 45,984,792 T457I probably damaging Het
Stox2 T A 8: 47,413,152 I52F possibly damaging Het
Syncrip A T 9: 88,479,685 probably benign Het
Tarsl2 G A 7: 65,688,952 probably null Het
Tdrd12 T C 7: 35,504,980 E235G probably benign Het
Tmem82 A T 4: 141,617,634 probably null Het
Tro T C X: 150,654,234 T476A probably damaging Het
Ttn G A 2: 76,731,019 P27302S probably damaging Het
Ttn C T 2: 76,741,266 V26428I probably damaging Het
Usp53 T C 3: 122,949,319 E656G probably benign Het
Vmn2r100 A G 17: 19,532,010 R772G probably damaging Het
Xkr5 T C 8: 18,934,458 E190G probably benign Het
Zfp236 A G 18: 82,632,970 probably benign Het
Zfr2 T G 10: 81,246,079 V493G probably benign Het
Zp2 A T 7: 120,141,834 S156T possibly damaging Het
Zswim5 A G 4: 116,962,558 T387A probably benign 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
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
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
R7527:Glt8d2 UTSW 10 82652569 missense unknown
R7563:Glt8d2 UTSW 10 82660825 splice site probably null
Predicted Primers PCR Primer
(F):5'- GCTGAGCATCACTCTGTAAGC -3'
(R):5'- CCATGCTGATTGTGTTTCACG -3'

Sequencing Primer
(F):5'- ATTGCATGAGAGTGTCAGATCCCC -3'
(R):5'- ATTGTGTTTCACGGGAAGTATTCCAC -3'
Posted On2015-01-23