Incidental Mutation 'IGL01912:Dctd'
ID 179850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dctd
Ensembl Gene ENSMUSG00000031562
Gene Name dCMP deaminase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01912
Quality Score
Status
Chromosome 8
Chromosomal Location 48099092-48153233 bp(+) (GRCm38)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 48111662 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033966] [ENSMUST00000170263] [ENSMUST00000174278] [ENSMUST00000174379] [ENSMUST00000174818]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033966
SMART Domains Protein: ENSMUSP00000033966
Gene: ENSMUSG00000031562

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 5e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098773
Predicted Effect probably benign
Transcript: ENSMUST00000170263
SMART Domains Protein: ENSMUSP00000126733
Gene: ENSMUSG00000031562

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173991
Predicted Effect probably benign
Transcript: ENSMUST00000174278
SMART Domains Protein: ENSMUSP00000133445
Gene: ENSMUSG00000031562

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174379
SMART Domains Protein: ENSMUSP00000134195
Gene: ENSMUSG00000031562

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 103 3.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174818
SMART Domains Protein: ENSMUSP00000134003
Gene: ENSMUSG00000031562

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 131 1.5e-27 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the deamination of dCMP to dUMP, the nucleotide substrate for thymidylate synthase. The encoded protein is allosterically activated by dCTP and inhibited by dTTP, and is found as a homohexamer. This protein uses zinc as a cofactor for its activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 46,120,510 D860E probably damaging Het
Actl11 C A 9: 107,929,645 P389Q probably damaging Het
Bsg G T 10: 79,710,140 G103W probably null Het
Camk2d T A 3: 126,810,632 probably null Het
Clcn7 T C 17: 25,153,009 probably benign Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Esyt2 T C 12: 116,339,609 I289T probably damaging Het
Exoc6b A C 6: 84,625,174 C753G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3633 T C 14: 42,640,786 probably benign Het
Hrh3 A T 2: 180,101,376 V153D probably damaging Het
Krt77 T A 15: 101,863,851 probably benign Het
Nat3 T A 8: 67,547,746 C92* probably null Het
Nckap1l T A 15: 103,474,146 L525M probably benign Het
Nrp2 T A 1: 62,771,737 C646S probably damaging Het
Olfr512 T C 7: 108,714,258 Y290H possibly damaging Het
Olfr659 T C 7: 104,671,233 I177T possibly damaging Het
Olfr698 T A 7: 106,752,992 Y132F probably damaging Het
Orc1 T C 4: 108,590,744 Y63H probably damaging Het
Otud4 T C 8: 79,673,837 V1059A probably benign Het
Ptprm A G 17: 67,046,118 V235A probably benign Het
Rab3ip G T 10: 116,907,092 Q443K probably benign Het
Tnc C A 4: 64,008,740 D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 probably null Het
Vmn1r233 T A 17: 20,994,205 Y161F probably benign Het
Vmn1r54 T C 6: 90,269,460 S119P probably damaging Het
Other mutations in Dctd
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0194:Dctd UTSW 8 48112078 missense probably benign 0.01
R4871:Dctd UTSW 8 48137414 intron probably benign
R5007:Dctd UTSW 8 48137414 intron probably benign
R5008:Dctd UTSW 8 48137414 intron probably benign
R5009:Dctd UTSW 8 48137414 intron probably benign
R5010:Dctd UTSW 8 48137414 intron probably benign
R5083:Dctd UTSW 8 48111716 missense probably damaging 1.00
R5381:Dctd UTSW 8 48137414 intron probably benign
R5382:Dctd UTSW 8 48137414 intron probably benign
R7131:Dctd UTSW 8 48112040 missense probably benign 0.02
R8152:Dctd UTSW 8 48111690 missense probably benign
R8693:Dctd UTSW 8 48112011 missense probably damaging 1.00
R8739:Dctd UTSW 8 48138848 missense probably benign 0.00
R9009:Dctd UTSW 8 48111677 missense probably benign
R9408:Dctd UTSW 8 48137350 missense probably damaging 1.00
X0057:Dctd UTSW 8 48140360 missense probably benign
Posted On 2014-05-07