Incidental Mutation 'IGL02488:Gtdc1'
ID295530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtdc1
Ensembl Gene ENSMUSG00000036890
Gene Nameglycosyltransferase-like domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02488
Quality Score
Status
Chromosome2
Chromosomal Location44564412-44927657 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44825439 bp
ZygosityHeterozygous
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] [ENSMUST00000146694] [ENSMUST00000148279] [ENSMUST00000154744]
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: 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 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 noncoding transcript
Transcript: ENSMUST00000148786
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Gtdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Gtdc1 APN 2 44591879 critical splice donor site probably null
IGL02133:Gtdc1 APN 2 44575443 missense probably damaging 1.00
IGL02465:Gtdc1 APN 2 44570423 missense probably damaging 1.00
IGL02835:Gtdc1 UTSW 2 44756312 nonsense probably null
K3955:Gtdc1 UTSW 2 44752221 critical splice acceptor site probably null
R0121:Gtdc1 UTSW 2 44565538 splice site probably benign
R0270:Gtdc1 UTSW 2 44752174 missense possibly damaging 0.94
R0490:Gtdc1 UTSW 2 44635040 missense probably benign 0.03
R1506:Gtdc1 UTSW 2 44575494 missense possibly damaging 0.65
R1889:Gtdc1 UTSW 2 44591914 missense probably damaging 1.00
R1944:Gtdc1 UTSW 2 44752186 missense possibly damaging 0.95
R3724:Gtdc1 UTSW 2 44756307 missense probably damaging 0.96
R4134:Gtdc1 UTSW 2 44825418 missense probably damaging 1.00
R4416:Gtdc1 UTSW 2 44575590 splice site probably null
R4666:Gtdc1 UTSW 2 44591925 missense probably benign 0.05
R4732:Gtdc1 UTSW 2 44789055 intron probably benign
R4947:Gtdc1 UTSW 2 44591956 missense probably null 0.01
R5474:Gtdc1 UTSW 2 44756367 missense probably damaging 1.00
R5911:Gtdc1 UTSW 2 44752064 missense probably benign 0.41
R6370:Gtdc1 UTSW 2 44756322 missense probably damaging 0.99
R6809:Gtdc1 UTSW 2 44575551 nonsense probably null
R6809:Gtdc1 UTSW 2 44825384 missense probably damaging 1.00
R7270:Gtdc1 UTSW 2 44635310 missense probably benign 0.01
R7581:Gtdc1 UTSW 2 44790005 splice site probably null
X0063:Gtdc1 UTSW 2 44570447 missense probably damaging 1.00
Posted On2015-04-16