Incidental Mutation 'IGL02488:Gtdc1'
ID 295530
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02488
Quality Score
Status
Chromosome 2
Chromosomal Location 44454424-44817669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44715451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 31 (Y31H)
Ref Sequence ENSEMBL: ENSMUSP00000116839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100127] [ENSMUST00000112810] [ENSMUST00000130991] [ENSMUST00000148279] [ENSMUST00000154744] [ENSMUST00000146694]
AlphaFold Q8BW56
Predicted Effect probably benign
Transcript: ENSMUST00000100127
AA Change: Y31H

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097703
Gene: ENSMUSG00000036890
AA Change: Y31H

DomainStartEndE-ValueType
Pfam:DUF3524 1 64 1.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112810
AA Change: Y31H

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: Y31H

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
AA Change: Y31H

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890
AA Change: Y31H

DomainStartEndE-ValueType
Pfam:DUF3524 1 87 1.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143766
Predicted Effect probably benign
Transcript: ENSMUST00000148279
AA Change: Y31H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000120593
Gene: ENSMUSG00000036890
AA Change: Y31H

DomainStartEndE-ValueType
Pfam:DUF3524 1 167 8.7e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154744
AA Change: Y31H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000119239
Gene: ENSMUSG00000036890
AA Change: Y31H

DomainStartEndE-ValueType
Pfam:DUF3524 1 115 2.3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146694
AA Change: Y31H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890
AA Change: Y31H

DomainStartEndE-ValueType
Pfam:DUF3524 1 116 1e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148786
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging 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
IGL02835:Gtdc1 UTSW 2 44,646,324 (GRCm39) nonsense probably null
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
Posted On 2015-04-16