Incidental Mutation 'IGL02718:Glt1d1'
ID304852
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: 0.050) question?
Stock #IGL02718
Quality Score
Status
Chromosome5
Chromosomal Location127632262-127709374 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 127650699 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 78 (F78L)
Ref Sequence ENSEMBL: ENSMUSP00000113864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118139]
Predicted Effect probably damaging
Transcript: ENSMUST00000118139
AA Change: F78L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: F78L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,699,904 D41G probably damaging Het
2210408I21Rik T A 13: 77,174,872 Y7N probably damaging Het
4921507P07Rik G T 6: 50,584,387 T184K probably damaging Het
Atf1 C A 15: 100,254,219 Q151K probably damaging Het
Brdt T C 5: 107,350,068 probably benign Het
Cep295 T C 9: 15,325,753 probably null Het
Ctnnd2 A G 15: 31,027,616 S1229G probably damaging Het
Dcaf15 T A 8: 84,098,376 I476L possibly damaging Het
Dlec1 A G 9: 119,137,286 I1108V probably benign Het
Dnah9 T A 11: 65,886,640 H3694L probably damaging Het
Dock10 A T 1: 80,523,818 D1838E probably benign Het
Dusp12 A T 1: 170,880,657 Y164N probably damaging Het
Ephx1 A G 1: 180,999,786 F101L probably damaging Het
Fbn1 C A 2: 125,369,886 C864F probably damaging Het
Fbxw24 T C 9: 109,624,790 E96G possibly damaging Het
Gm9602 A T 14: 4,776,474 R21* probably null Het
Grip1 T A 10: 120,075,515 *713K probably null Het
Hecw1 T C 13: 14,306,935 probably null Het
Il31ra G A 13: 112,530,369 R392* probably null Het
L3hypdh T G 12: 72,084,856 S101R probably damaging Het
Lpar5 T A 6: 125,082,244 D309E probably damaging Het
Masp1 T C 16: 23,476,293 Y406C probably damaging Het
Mpdz T C 4: 81,385,202 I166M probably damaging Het
Nbea A T 3: 55,632,062 Y2759* probably null Het
Ncf1 A T 5: 134,227,448 probably null Het
Nek5 T G 8: 22,097,463 R314S probably benign Het
Nifk A C 1: 118,327,632 N38T probably damaging Het
Obscn C T 11: 59,077,858 V2772M probably damaging Het
Olfr1367 T C 13: 21,347,384 L152P probably damaging Het
Olfr181 T C 16: 58,926,096 I158M possibly damaging Het
Olfr419 G T 1: 174,250,707 Y73* probably null Het
Olfr584 C A 7: 103,085,583 L22I probably benign Het
Olfr707 A T 7: 106,891,329 M260K probably damaging Het
Olfr979 A T 9: 40,000,886 Y114N probably damaging Het
Pbxip1 A G 3: 89,448,004 E610G probably damaging Het
Pfas G T 11: 69,000,145 probably benign Het
Plk4 T C 3: 40,815,021 S102P probably damaging Het
Ptprz1 C T 6: 23,001,349 T1146I possibly damaging Het
Pum2 T A 12: 8,733,344 S598T probably benign Het
Ric1 T A 19: 29,533,240 W74R probably damaging Het
Riok3 C A 18: 12,152,996 S427* probably null Het
Ros1 A T 10: 52,118,232 D1317E probably damaging Het
Sfmbt2 A G 2: 10,402,031 D47G possibly damaging Het
Slc12a1 C T 2: 125,161,079 R177* probably null Het
Snai3 C A 8: 122,456,122 probably null Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Soat1 A T 1: 156,441,429 S151T probably benign Het
Stbd1 A G 5: 92,603,218 E37G possibly damaging Het
Syt10 A G 15: 89,814,079 I354T probably damaging Het
Trip11 A C 12: 101,886,025 S593R probably benign Het
Ubr1 T C 2: 120,914,883 E908G probably damaging Het
Yy1 T C 12: 108,815,479 F357L probably damaging Het
Other mutations in Glt1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Glt1d1 APN 5 127632285 start codon destroyed probably null 1.00
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
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 splice site probably null
R6502:Glt1d1 UTSW 5 127706981 missense probably damaging 1.00
R8205:Glt1d1 UTSW 5 127691016 missense probably benign 0.05
Posted On2015-04-16