Incidental Mutation 'IGL00156:Glt1d1'
ID1619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glt1d1
Ensembl Gene ENSMUSG00000049971
Gene Nameglycosyltransferase 1 domain containing 1
Synonyms5730455A04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL00156
Quality Score
Status
Chromosome5
Chromosomal Location127632262-127709374 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to C at 127632285 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000113864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118139] [ENSMUST00000155321]
Predicted Effect probably null
Transcript: ENSMUST00000118139
AA Change: M1T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Glycos_transf_1 153 319 8.2e-23 PFAM
Pfam:Glyco_trans_1_4 166 305 8.7e-15 PFAM
Pfam:Glyco_trans_1_2 244 335 8.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137157
Predicted Effect probably benign
Transcript: ENSMUST00000144603
SMART Domains Protein: ENSMUSP00000116420
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 7 127 2.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155321
SMART Domains Protein: ENSMUSP00000117258
Gene: ENSMUSG00000029416

DomainStartEndE-ValueType
Pfam:PTR2 7 105 1e-31 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,062,704 probably null Het
Adamts19 T A 18: 59,024,465 V943E probably damaging Het
C530025M09Rik C A 2: 149,830,726 probably benign Het
Cep192 T G 18: 67,820,336 W475G probably damaging Het
Col28a1 T C 6: 8,014,795 Y870C probably damaging Het
Cyp2a22 A T 7: 26,937,738 M207K probably benign Het
Dpm1 A G 2: 168,210,575 V247A probably benign Het
Gm9507 A T 10: 77,811,280 C188* probably null Het
Hectd4 T C 5: 121,363,870 V4222A possibly damaging Het
Igkv3-3 T A 6: 70,687,413 S80T possibly damaging Het
Lrrc49 T C 9: 60,601,320 K520E probably damaging Het
Ltbp1 A T 17: 75,385,160 Y1273F probably damaging Het
Lyst T A 13: 13,648,878 H1478Q probably benign Het
Mre11a A G 9: 14,825,208 D518G probably benign Het
Olfr1243 C T 2: 89,528,207 D68N probably damaging Het
Olfr381 T A 11: 73,486,572 N84I probably benign Het
Olfr859 T C 9: 19,808,396 I26T probably benign Het
Pkd1l1 T A 11: 8,950,515 S9C probably damaging Het
Prrc2b A G 2: 32,208,719 H681R probably damaging Het
Rapgef1 A G 2: 29,722,269 S644G probably benign Het
Sgce T A 6: 4,689,750 H361L probably damaging Het
Specc1 G T 11: 62,118,009 W117L probably benign Het
Srrm4 A G 5: 116,446,557 S485P possibly damaging Het
Traf2 G T 2: 25,520,451 Y395* probably null Het
Trf A G 9: 103,220,957 I34T probably benign Het
Vdac2 T C 14: 21,838,524 Y165H possibly damaging Het
Wwp1 T C 4: 19,650,360 T269A probably benign Het
Other mutations in Glt1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Glt1d1 APN 5 127632320 missense possibly damaging 0.86
IGL01608:Glt1d1 APN 5 127664682 missense possibly damaging 0.56
IGL01738:Glt1d1 APN 5 127632355 intron probably benign
IGL02028:Glt1d1 APN 5 127706920 missense possibly damaging 0.63
IGL02273:Glt1d1 APN 5 127657144 splice site probably benign
IGL02603:Glt1d1 APN 5 127632345 missense probably damaging 1.00
IGL02718:Glt1d1 APN 5 127650699 missense probably damaging 0.98
IGL02850:Glt1d1 APN 5 127644345 missense probably benign 0.00
IGL03328:Glt1d1 APN 5 127657119 missense probably benign
R0049:Glt1d1 UTSW 5 127663327 splice site probably benign
R0312:Glt1d1 UTSW 5 127691070 missense probably damaging 1.00
R0400:Glt1d1 UTSW 5 127657075 splice site probably benign
R1838:Glt1d1 UTSW 5 127678129 missense probably benign 0.01
R2060:Glt1d1 UTSW 5 127657119 missense probably benign
R2262:Glt1d1 UTSW 5 127657112 missense probably benign 0.08
R3776:Glt1d1 UTSW 5 127694311 missense probably damaging 1.00
R4205:Glt1d1 UTSW 5 127689871 missense probably benign 0.32
R4249:Glt1d1 UTSW 5 127691112 critical splice donor site probably null
R4379:Glt1d1 UTSW 5 127694282 missense possibly damaging 0.73
R5044:Glt1d1 UTSW 5 127644414 missense probably benign 0.38
R5289:Glt1d1 UTSW 5 127644356 missense probably benign 0.11
R5374:Glt1d1 UTSW 5 127657084 splice site probably null
R5533:Glt1d1 UTSW 5 127691031 missense probably damaging 1.00
R5592:Glt1d1 UTSW 5 127657119 missense probably benign 0.01
R5870:Glt1d1 UTSW 5 127677280 missense probably damaging 1.00
R5942:Glt1d1 UTSW 5 127644470 splice site probably null
R6128:Glt1d1 UTSW 5 127677271 missense probably damaging 1.00
R6349:Glt1d1 UTSW 5 127706886 missense probably benign 0.10
R6490:Glt1d1 UTSW 5 127644296 intron probably null
R6502:Glt1d1 UTSW 5 127706981 missense probably damaging 1.00
Posted On2011-07-12