Incidental Mutation 'IGL02835:Gtdc1'
ID 391954
Institutional Source Beutler Lab
Gene Symbol Gtdc1
Ensembl Gene ENSMUSG00000036890
Gene Name glycosyltransferase-like domain containing 1
Synonyms E330008O22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02835 (G1)
Quality Score 56
Status Validated
Chromosome 2
Chromosomal Location 44454424-44817669 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 44646324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 101 (Y101*)
Ref Sequence ENSEMBL: ENSMUSP00000119239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049051] [ENSMUST00000112810] [ENSMUST00000130991] [ENSMUST00000146694] [ENSMUST00000148279] [ENSMUST00000154744]
AlphaFold Q8BW56
Predicted Effect probably null
Transcript: ENSMUST00000049051
AA Change: Y42*
SMART Domains Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
AA Change: Y42*

DomainStartEndE-ValueType
Pfam:DUF3524 1 108 1.4e-44 PFAM
Pfam:Glycos_transf_1 208 360 4.9e-13 PFAM
Pfam:Glyco_trans_1_4 210 348 2.3e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112810
AA Change: Y101*
SMART Domains Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: Y101*

DomainStartEndE-ValueType
Pfam:DUF3524 2 167 1.3e-74 PFAM
Pfam:Glycos_transf_1 266 444 1.3e-10 PFAM
Pfam:Glyco_trans_1_4 269 407 1.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129240
Predicted Effect probably benign
Transcript: ENSMUST00000130991
SMART Domains Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890

DomainStartEndE-ValueType
Pfam:DUF3524 1 87 1.7e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000146694
AA Change: Y101*
SMART Domains Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890
AA Change: Y101*

DomainStartEndE-ValueType
Pfam:DUF3524 1 116 1e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000148279
AA Change: Y101*
SMART Domains Protein: ENSMUSP00000120593
Gene: ENSMUSG00000036890
AA Change: Y101*

DomainStartEndE-ValueType
Pfam:DUF3524 1 167 8.7e-68 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000154744
AA Change: Y101*
SMART Domains Protein: ENSMUSP00000119239
Gene: ENSMUSG00000036890
AA Change: Y101*

DomainStartEndE-ValueType
Pfam:DUF3524 1 115 2.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148786
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,937,284 (GRCm39) K208* probably null Het
A530016L24Rik A C 12: 112,461,420 (GRCm39) probably null Het
A830018L16Rik A C 1: 12,042,279 (GRCm39) D433A possibly damaging Het
Abca13 T A 11: 9,401,515 (GRCm39) I3985N probably damaging Het
Abhd17c C T 7: 83,800,731 (GRCm39) D108N probably benign Het
Adam29 C T 8: 56,326,173 (GRCm39) D94N probably damaging Het
Agr2 A G 12: 36,045,903 (GRCm39) D50G probably benign Het
Angptl1 A G 1: 156,686,090 (GRCm39) D392G probably benign Het
Apob A G 12: 8,065,097 (GRCm39) N3989S possibly damaging Het
AU018091 T C 7: 3,218,897 (GRCm39) D12G unknown Het
Cyfip2 A T 11: 46,140,598 (GRCm39) S742T probably benign Het
Dlc1 C T 8: 37,051,055 (GRCm39) S892N probably damaging Het
Dsg1b A G 18: 20,525,071 (GRCm39) N169S possibly damaging Het
Egfem1 T C 3: 29,711,390 (GRCm39) L323P probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fjx1 G A 2: 102,281,092 (GRCm39) A281V possibly damaging Het
Fmn2 T A 1: 174,409,625 (GRCm39) D619E unknown Het
Gm4795 A C 10: 44,882,254 (GRCm39) noncoding transcript Het
Gm5117 T C 8: 32,227,198 (GRCm39) noncoding transcript Het
Gm5250 T C 1: 13,132,418 (GRCm39) noncoding transcript Het
Herc6 T C 6: 57,623,146 (GRCm39) I583T possibly damaging Het
Hyal4 G A 6: 24,765,714 (GRCm39) R356H probably benign Het
Il22ra2 C A 10: 19,502,424 (GRCm39) T81K probably benign Het
Iqcm T A 8: 76,281,511 (GRCm39) probably benign Het
Izumo4 G A 10: 80,540,959 (GRCm39) V220I probably benign Het
Kif16b A T 2: 142,554,133 (GRCm39) D899E probably benign Het
Lrp2 A T 2: 69,335,648 (GRCm39) N1358K probably damaging Het
Lrrk2 A G 15: 91,698,863 (GRCm39) probably null Het
Lyst C T 13: 13,835,685 (GRCm39) T1789M possibly damaging Het
Map4k4 A G 1: 40,049,760 (GRCm39) T732A probably damaging Het
Mdh1b A T 1: 63,757,816 (GRCm39) I305N probably damaging Het
Mettl13 A G 1: 162,373,585 (GRCm39) I222T probably damaging Het
Mtcl2 G A 2: 156,883,854 (GRCm39) T363I possibly damaging Het
Muc4 T C 16: 32,584,319 (GRCm39) F2583L probably benign Het
Nbea C T 3: 55,625,290 (GRCm39) R2267Q possibly damaging Het
Ndfip1 T C 18: 38,589,144 (GRCm39) Y178H probably damaging Het
Nin A T 12: 70,103,512 (GRCm39) F243I probably damaging Het
Nlrp10 A T 7: 108,523,869 (GRCm39) I537K possibly damaging Het
Nup155 T C 15: 8,172,614 (GRCm39) Y867H probably damaging Het
Pakap C G 4: 57,883,044 (GRCm39) P837A probably damaging Het
Pik3r4 A C 9: 105,549,905 (GRCm39) I999L probably benign Het
Pitpnm3 G A 11: 71,952,292 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polg2 A T 11: 106,666,266 (GRCm39) V293E probably benign Het
Pramel22 T A 4: 143,380,817 (GRCm39) Y402F probably damaging Het
Prok1 T C 3: 107,144,531 (GRCm39) probably null Het
Ptcd1 T C 5: 145,091,500 (GRCm39) D533G possibly damaging Het
Ptpn13 T C 5: 103,707,891 (GRCm39) V1484A probably damaging Het
Rapgef2 A T 3: 79,000,293 (GRCm39) probably benign Het
Serpinb8 T G 1: 107,530,586 (GRCm39) F121L probably damaging Het
Sh3rf1 T A 8: 61,679,081 (GRCm39) V41E probably damaging Het
Snx13 A G 12: 35,182,126 (GRCm39) N725S possibly damaging Het
Stab1 A T 14: 30,867,981 (GRCm39) probably null Het
Themis A T 10: 28,637,616 (GRCm39) probably benign Het
Trim68 T A 7: 102,327,780 (GRCm39) Y391F probably benign Het
Trmt1 T G 8: 85,423,589 (GRCm39) V327G probably null Het
Vill C T 9: 118,896,513 (GRCm39) T120M probably benign Het
Other mutations in Gtdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Gtdc1 APN 2 44,481,891 (GRCm39) critical splice donor site probably null
IGL02133:Gtdc1 APN 2 44,465,455 (GRCm39) missense probably damaging 1.00
IGL02465:Gtdc1 APN 2 44,460,435 (GRCm39) missense probably damaging 1.00
IGL02488:Gtdc1 APN 2 44,715,451 (GRCm39) missense probably benign 0.38
K3955:Gtdc1 UTSW 2 44,642,233 (GRCm39) critical splice acceptor site probably null
R0121:Gtdc1 UTSW 2 44,455,550 (GRCm39) splice site probably benign
R0270:Gtdc1 UTSW 2 44,642,186 (GRCm39) missense possibly damaging 0.94
R0490:Gtdc1 UTSW 2 44,525,052 (GRCm39) missense probably benign 0.03
R1506:Gtdc1 UTSW 2 44,465,506 (GRCm39) missense possibly damaging 0.65
R1889:Gtdc1 UTSW 2 44,481,926 (GRCm39) missense probably damaging 1.00
R1944:Gtdc1 UTSW 2 44,642,198 (GRCm39) missense possibly damaging 0.95
R3724:Gtdc1 UTSW 2 44,646,319 (GRCm39) missense probably damaging 0.96
R4134:Gtdc1 UTSW 2 44,715,430 (GRCm39) missense probably damaging 1.00
R4416:Gtdc1 UTSW 2 44,465,602 (GRCm39) splice site probably null
R4666:Gtdc1 UTSW 2 44,481,937 (GRCm39) missense probably benign 0.05
R4732:Gtdc1 UTSW 2 44,679,067 (GRCm39) intron probably benign
R4947:Gtdc1 UTSW 2 44,481,968 (GRCm39) missense probably null 0.01
R5474:Gtdc1 UTSW 2 44,646,379 (GRCm39) missense probably damaging 1.00
R5911:Gtdc1 UTSW 2 44,642,076 (GRCm39) missense probably benign 0.41
R6370:Gtdc1 UTSW 2 44,646,334 (GRCm39) missense probably damaging 0.99
R6809:Gtdc1 UTSW 2 44,715,396 (GRCm39) missense probably damaging 1.00
R6809:Gtdc1 UTSW 2 44,465,563 (GRCm39) nonsense probably null
R7270:Gtdc1 UTSW 2 44,525,322 (GRCm39) missense probably benign 0.01
R7581:Gtdc1 UTSW 2 44,680,017 (GRCm39) splice site probably null
R8547:Gtdc1 UTSW 2 44,678,993 (GRCm39) intron probably benign
R8951:Gtdc1 UTSW 2 44,679,030 (GRCm39) intron probably benign
R8997:Gtdc1 UTSW 2 44,715,386 (GRCm39) missense probably benign 0.02
R9796:Gtdc1 UTSW 2 44,715,386 (GRCm39) missense probably benign 0.02
X0063:Gtdc1 UTSW 2 44,460,459 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGAAGCCCCAGACTTATG -3'
(R):5'- CAAATTTCTCTTGGGGTGGAAAG -3'

Sequencing Primer
(F):5'- TGGAGTCTCCCCATAAATATCAAAGG -3'
(R):5'- AGAGGAATCAAAGCATGCCC -3'
Posted On 2016-06-08