Incidental Mutation 'IGL01594:Gtdc1'
ID91694
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: 0.088) question?
Stock #IGL01594
Quality Score
Status
Chromosome2
Chromosomal Location44564412-44927657 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 44591879 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049051] [ENSMUST00000112810] [ENSMUST00000130991] [ENSMUST00000146694]
Predicted Effect probably null
Transcript: ENSMUST00000049051
SMART Domains Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890

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
SMART Domains Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890

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 probably null
Transcript: ENSMUST00000130991
SMART Domains Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890

DomainStartEndE-ValueType
Pfam:DUF3524 1 87 1.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146694
SMART Domains Protein: ENSMUSP00000119639
Gene: ENSMUSG00000036890

DomainStartEndE-ValueType
Pfam:DUF3524 1 116 1e-44 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,071 probably null Het
Acss1 A T 2: 150,621,530 V618E probably damaging Het
Adgrg6 T C 10: 14,434,340 N774D probably damaging Het
Atp9a A G 2: 168,691,012 V134A probably damaging Het
Csmd3 T A 15: 47,629,239 T3169S probably benign Het
D030068K23Rik T A 8: 109,251,377 Q52L unknown Het
Dnah5 T C 15: 28,311,334 S1820P possibly damaging Het
Fem1c A C 18: 46,506,276 S220A probably benign Het
Gm10305 G A 4: 99,273,177 D108N unknown Het
Il2ra T C 2: 11,680,396 V181A possibly damaging Het
Lrrn1 T C 6: 107,567,493 I84T probably damaging Het
Map3k1 T A 13: 111,758,189 probably null Het
Mical1 T G 10: 41,480,329 Y293D probably damaging Het
Mpzl1 T C 1: 165,593,592 D266G probably damaging Het
Olfr544 C A 7: 102,485,047 M24I probably benign Het
Pabpc4l A T 3: 46,447,146 V21D probably damaging Het
Prdm10 T C 9: 31,346,853 C525R probably damaging Het
Ptprj C A 2: 90,440,795 probably benign Het
Rgs3 T C 4: 62,619,744 F4S probably damaging Het
Ryr3 G A 2: 112,772,728 T2457I probably damaging Het
Scn3a A G 2: 65,461,431 I1657T probably damaging Het
Sema6a A G 18: 47,248,817 S888P probably damaging Het
Slc37a1 T A 17: 31,319,148 Y148* probably null Het
Tex10 T C 4: 48,469,906 N53S possibly damaging Het
Tyr A T 7: 87,483,814 probably benign Het
Vmn2r100 A G 17: 19,531,233 S513G possibly damaging Het
Other mutations in Gtdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Gtdc1 APN 2 44575443 missense probably damaging 1.00
IGL02465:Gtdc1 APN 2 44570423 missense probably damaging 1.00
IGL02488:Gtdc1 APN 2 44825439 missense probably benign 0.38
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 intron probably null
X0063:Gtdc1 UTSW 2 44570447 missense probably damaging 1.00
Posted On2013-12-09