Incidental Mutation 'R4205:Glt1d1'
ID 318864
Institutional Source Beutler Lab
Gene Symbol Glt1d1
Ensembl Gene ENSMUSG00000049971
Gene Name glycosyltransferase 1 domain containing 1
Synonyms 5730455A04Rik
MMRRC Submission 041034-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R4205 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 127709326-127786438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127766935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 217 (R217L)
Ref Sequence ENSEMBL: ENSMUSP00000113864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118139]
AlphaFold A4FUP9
Predicted Effect probably benign
Transcript: ENSMUST00000118139
AA Change: R217L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: R217L

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: ENSMUST00000134529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137157
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,422,964 (GRCm39) V17L probably damaging Het
Akap13 T C 7: 75,260,667 (GRCm39) I294T probably benign Het
Alpk2 G A 18: 65,438,282 (GRCm39) T1037M possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Arhgef5 A G 6: 43,250,766 (GRCm39) T506A possibly damaging Het
Bclaf3 T A X: 158,336,829 (GRCm39) S419T probably damaging Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cdhr1 G T 14: 36,802,461 (GRCm39) F667L probably benign Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dmrtc2 C T 7: 24,575,231 (GRCm39) Q275* probably null Het
Dsg1b A T 18: 20,541,878 (GRCm39) D795V probably damaging Het
Elavl1 A G 8: 4,339,851 (GRCm39) W244R probably damaging Het
Emilin1 T C 5: 31,077,243 (GRCm39) probably benign Het
Fam20c T G 5: 138,741,431 (GRCm39) L14R probably damaging Het
Klk14 G A 7: 43,344,358 (GRCm39) R223H probably benign Het
Lrrc26 G T 2: 25,180,170 (GRCm39) C57F probably damaging Het
Maml1 A T 11: 50,148,740 (GRCm39) L1000Q probably damaging Het
Map2 A G 1: 66,464,449 (GRCm39) Y125C probably damaging Het
Mapk1 T C 16: 16,856,321 (GRCm39) probably benign Het
Mocos G A 18: 24,799,248 (GRCm39) V161M possibly damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Pcdhgb5 A G 18: 37,865,716 (GRCm39) N504D possibly damaging Het
Pcx G A 19: 4,669,194 (GRCm39) V731M possibly damaging Het
Ppfibp1 C A 6: 146,931,079 (GRCm39) S878R probably damaging Het
Ptprh C A 7: 4,600,991 (GRCm39) G129W probably damaging Het
Rasal1 T C 5: 120,797,628 (GRCm39) V120A probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Rtn4rl1 A T 11: 75,156,809 (GRCm39) I414F probably damaging Het
Rtn4rl1 C A 11: 75,156,818 (GRCm39) P417T probably damaging Het
Shank3 T C 15: 89,387,521 (GRCm39) L230P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Taar9 C T 10: 23,984,477 (GRCm39) R319H possibly damaging Het
Tbck T A 3: 132,543,789 (GRCm39) I880N probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Zc3h13 A G 14: 75,565,041 (GRCm39) D718G unknown Het
Other mutations in Glt1d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Glt1d1 APN 5 127,709,349 (GRCm39) start codon destroyed probably null 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGTCCCACCTGCATAATTGG -3'
(R):5'- ACCCAAAGCATGACCTTGG -3'

Sequencing Primer
(F):5'- CACACGTCATGGTGCATATG -3'
(R):5'- CTTGGGAGGTCACAGGGAAC -3'
Posted On 2015-06-10