Incidental Mutation 'IGL00156:Glt1d1'
ID 1619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glt1d1
Ensembl Gene ENSMUSG00000049971
Gene Name glycosyltransferase 1 domain containing 1
Synonyms 5730455A04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL00156
Quality Score
Status
Chromosome 5
Chromosomal Location 127709326-127786438 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 127709349 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A4FUP9
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: 121,856,353 (GRCm39) probably null Het
Adamts19 T A 18: 59,157,537 (GRCm39) V943E probably damaging Het
C530025M09Rik C A 2: 149,672,646 (GRCm39) probably benign Het
Cep192 T G 18: 67,953,407 (GRCm39) W475G probably damaging Het
Col28a1 T C 6: 8,014,795 (GRCm39) Y870C probably damaging Het
Cyp2a22 A T 7: 26,637,163 (GRCm39) M207K probably benign Het
Dpm1 A G 2: 168,052,495 (GRCm39) V247A probably benign Het
Gm9507 A T 10: 77,647,114 (GRCm39) C188* probably null Het
Hectd4 T C 5: 121,501,933 (GRCm39) V4222A possibly damaging Het
Igkv3-3 T A 6: 70,664,397 (GRCm39) S80T possibly damaging Het
Lrrc49 T C 9: 60,508,603 (GRCm39) K520E probably damaging Het
Ltbp1 A T 17: 75,692,155 (GRCm39) Y1273F probably damaging Het
Lyst T A 13: 13,823,463 (GRCm39) H1478Q probably benign Het
Mre11a A G 9: 14,736,504 (GRCm39) D518G probably benign Het
Or1e22 T A 11: 73,377,398 (GRCm39) N84I probably benign Het
Or4a71 C T 2: 89,358,551 (GRCm39) D68N probably damaging Het
Or7e168 T C 9: 19,719,692 (GRCm39) I26T probably benign Het
Pkd1l1 T A 11: 8,900,515 (GRCm39) S9C probably damaging Het
Prrc2b A G 2: 32,098,731 (GRCm39) H681R probably damaging Het
Rapgef1 A G 2: 29,612,281 (GRCm39) S644G probably benign Het
Sgce T A 6: 4,689,750 (GRCm39) H361L probably damaging Het
Specc1 G T 11: 62,008,835 (GRCm39) W117L probably benign Het
Srrm4 A G 5: 116,584,616 (GRCm39) S485P possibly damaging Het
Traf2 G T 2: 25,410,463 (GRCm39) Y395* probably null Het
Trf A G 9: 103,098,156 (GRCm39) I34T probably benign Het
Vdac2 T C 14: 21,888,592 (GRCm39) Y165H possibly damaging Het
Wwp1 T C 4: 19,650,360 (GRCm39) T269A probably benign Het
Other mutations in Glt1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Glt1d1 APN 5 127,709,384 (GRCm39) missense possibly damaging 0.86
IGL01608:Glt1d1 APN 5 127,741,746 (GRCm39) missense possibly damaging 0.56
IGL01738:Glt1d1 APN 5 127,709,419 (GRCm39) intron probably benign
IGL02028:Glt1d1 APN 5 127,783,984 (GRCm39) missense possibly damaging 0.63
IGL02273:Glt1d1 APN 5 127,734,208 (GRCm39) splice site probably benign
IGL02603:Glt1d1 APN 5 127,709,409 (GRCm39) missense probably damaging 1.00
IGL02718:Glt1d1 APN 5 127,727,763 (GRCm39) missense probably damaging 0.98
IGL02850:Glt1d1 APN 5 127,721,409 (GRCm39) missense probably benign 0.00
IGL03328:Glt1d1 APN 5 127,734,183 (GRCm39) missense probably benign
R0049:Glt1d1 UTSW 5 127,740,391 (GRCm39) splice site probably benign
R0312:Glt1d1 UTSW 5 127,768,134 (GRCm39) missense probably damaging 1.00
R0400:Glt1d1 UTSW 5 127,734,139 (GRCm39) splice site probably benign
R1838:Glt1d1 UTSW 5 127,755,193 (GRCm39) missense probably benign 0.01
R2060:Glt1d1 UTSW 5 127,734,183 (GRCm39) missense probably benign
R2262:Glt1d1 UTSW 5 127,734,176 (GRCm39) missense probably benign 0.08
R3776:Glt1d1 UTSW 5 127,771,375 (GRCm39) missense probably damaging 1.00
R4205:Glt1d1 UTSW 5 127,766,935 (GRCm39) missense probably benign 0.32
R4249:Glt1d1 UTSW 5 127,768,176 (GRCm39) critical splice donor site probably null
R4379:Glt1d1 UTSW 5 127,771,346 (GRCm39) missense possibly damaging 0.73
R5044:Glt1d1 UTSW 5 127,721,478 (GRCm39) missense probably benign 0.38
R5289:Glt1d1 UTSW 5 127,721,420 (GRCm39) missense probably benign 0.11
R5374:Glt1d1 UTSW 5 127,734,148 (GRCm39) splice site probably null
R5533:Glt1d1 UTSW 5 127,768,095 (GRCm39) missense probably damaging 1.00
R5592:Glt1d1 UTSW 5 127,734,183 (GRCm39) missense probably benign 0.01
R5870:Glt1d1 UTSW 5 127,754,344 (GRCm39) missense probably damaging 1.00
R5942:Glt1d1 UTSW 5 127,721,534 (GRCm39) splice site probably null
R6128:Glt1d1 UTSW 5 127,754,335 (GRCm39) missense probably damaging 1.00
R6349:Glt1d1 UTSW 5 127,783,950 (GRCm39) missense probably benign 0.10
R6490:Glt1d1 UTSW 5 127,721,360 (GRCm39) splice site probably null
R6502:Glt1d1 UTSW 5 127,784,045 (GRCm39) missense probably damaging 1.00
R8205:Glt1d1 UTSW 5 127,768,080 (GRCm39) missense probably benign 0.05
R9231:Glt1d1 UTSW 5 127,754,341 (GRCm39) missense probably damaging 1.00
R9699:Glt1d1 UTSW 5 127,771,364 (GRCm39) missense probably damaging 1.00
Posted On 2011-07-12