Incidental Mutation 'R5485:Glt8d2'
ID432525
Institutional Source Beutler Lab
Gene Symbol Glt8d2
Ensembl Gene ENSMUSG00000020251
Gene Nameglycosyltransferase 8 domain containing 2
Synonyms1110021D20Rik
MMRRC Submission 043046-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #R5485 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location82650433-82690650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 82651448 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 319 (R319S)
Ref Sequence ENSEMBL: ENSMUSP00000020485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020485] [ENSMUST00000065815] [ENSMUST00000092266] [ENSMUST00000125505] [ENSMUST00000151390] [ENSMUST00000177353]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020485
AA Change: R319S

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: R319S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Glyco_transf_8 54 326 3e-47 PFAM
Predicted Effect probably benign
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: 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: ENSMUST00000125970
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 0.0853 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.6%
Validation Efficiency 98% (59/60)
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
1700093K21Rik A T 11: 23,517,378 V85D probably benign Het
Abcb8 A G 5: 24,400,161 N115S probably benign Het
Appl1 C A 14: 26,962,866 L75F probably damaging Het
Atp13a5 A G 16: 29,281,942 probably null Het
Atp2c2 T A 8: 119,753,062 probably null Het
Cfap54 T A 10: 93,029,117 I94F probably damaging Het
Clasp1 A G 1: 118,467,913 I194V possibly damaging Het
Crebbp A C 16: 4,114,913 D1000E probably benign Het
Ctdnep1 C T 11: 69,981,490 R3W possibly damaging Het
Dgkb T C 12: 38,127,364 V230A probably damaging Het
Duoxa2 T C 2: 122,299,152 F38L possibly damaging Het
Ecd T C 14: 20,338,205 S172G probably benign Het
Endog G T 2: 30,171,651 probably benign Het
Eqtn G A 4: 94,924,956 P131L possibly damaging Het
Gabbr1 T A 17: 37,056,875 S290T possibly damaging Het
Gm16686 A G 4: 88,755,404 probably benign Het
Gm5709 A T 3: 59,635,562 noncoding transcript Het
Gm7381 T C 8: 3,842,161 noncoding transcript Het
Gorab T G 1: 163,386,302 D353A possibly damaging Het
Gstm1 A G 3: 108,017,404 L20P probably damaging Het
Hexim2 A G 11: 103,139,058 D312G probably benign Het
Hfm1 A G 5: 106,847,662 probably null Het
Mbd4 C A 6: 115,850,718 A66S probably benign Het
Mmp27 T A 9: 7,573,362 W152R probably damaging Het
Mogat1 A G 1: 78,523,670 T124A probably benign Het
Mrps18b A T 17: 35,914,344 V102D probably damaging Het
Olfr1513 A T 14: 52,349,319 C242* probably null Het
Peg10 T A 6: 4,755,565 M47K probably benign Het
Plxnc1 T G 10: 94,922,742 Q364P probably benign Het
Psd A T 19: 46,316,089 probably null Het
Rims1 T G 1: 22,483,208 I470L possibly damaging Het
Sbsn T C 7: 30,753,117 V519A possibly damaging Het
Senp1 A G 15: 98,066,496 V279A probably benign Het
Sfxn5 T A 6: 85,332,600 probably benign Het
Slc6a13 T A 6: 121,336,073 M483K probably damaging Het
Slc6a21 G A 7: 45,282,542 probably null Het
Slco6c1 T C 1: 97,125,756 Y140C probably damaging Het
Spata32 A G 11: 103,209,296 S128P probably damaging Het
Spty2d1 G T 7: 46,997,885 T432K possibly damaging Het
Stx8 A G 11: 68,020,966 Q170R probably benign Het
Sytl3 G A 17: 6,715,480 V112I probably benign Het
Tdrkh A G 3: 94,428,712 I420V probably benign Het
Tmem117 T C 15: 95,094,830 V457A probably benign Het
Tpk1 T C 6: 43,665,812 probably benign Het
Trpc2 GTGTCCTA GTGTCCTATGTCCTA 7: 102,095,213 probably null Het
Tsen54 A G 11: 115,815,222 E90G probably benign Het
Ugt1a2 A T 1: 88,201,246 M204L probably damaging Het
Vmn2r17 A T 5: 109,420,106 I32F probably benign Het
Xkr6 T C 14: 63,819,384 V248A unknown Het
Zfhx4 C A 3: 5,243,007 S431Y probably damaging Het
Zfp318 T A 17: 46,412,254 S1728T possibly damaging Het
Zfp563 T C 17: 33,089,566 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
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
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'- CCTTGGTTCAACTTGTACACAG -3'
(R):5'- TGACTCCTGCTAACTGGACAC -3'

Sequencing Primer
(F):5'- ACACAGTAGTATTTGTCTCTTACACC -3'
(R):5'- GCTAACTGGACACTTTTACCATAGC -3'
Posted On2016-10-05