Incidental Mutation 'R5083:Dctd'
ID 387258
Institutional Source Beutler Lab
Gene Symbol Dctd
Ensembl Gene ENSMUSG00000031562
Gene Name dCMP deaminase
Synonyms 6030466N05Rik
MMRRC Submission 042672-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5083 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 48552127-48594702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48564751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 18 (Y18H)
Ref Sequence ENSEMBL: ENSMUSP00000134195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033966] [ENSMUST00000170263] [ENSMUST00000174278] [ENSMUST00000174379] [ENSMUST00000174818]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033966
AA Change: Y18H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033966
Gene: ENSMUSG00000031562
AA Change: Y18H

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 5e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098773
Predicted Effect probably damaging
Transcript: ENSMUST00000170263
AA Change: Y18H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126733
Gene: ENSMUSG00000031562
AA Change: Y18H

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173991
Predicted Effect probably damaging
Transcript: ENSMUST00000174278
AA Change: Y18H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133445
Gene: ENSMUSG00000031562
AA Change: Y18H

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174379
AA Change: Y18H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134195
Gene: ENSMUSG00000031562
AA Change: Y18H

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 103 3.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174818
AA Change: Y18H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134003
Gene: ENSMUSG00000031562
AA Change: Y18H

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 131 1.5e-27 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik C T 17: 48,473,558 (GRCm39) V120M possibly damaging Het
Abca6 T C 11: 110,109,793 (GRCm39) D646G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
Arid1b A G 17: 5,364,293 (GRCm39) T554A possibly damaging Het
Atp2a3 G T 11: 72,873,652 (GRCm39) V824L probably null Het
Bet1 T C 6: 4,077,895 (GRCm39) I115V possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cfap65 A G 1: 74,945,600 (GRCm39) S1373P probably damaging Het
Chd9 T C 8: 91,711,002 (GRCm39) L353P probably damaging Het
Chil3 C A 3: 106,071,405 (GRCm39) probably null Het
Comp C T 8: 70,833,950 (GRCm39) T655M probably damaging Het
Ddx39b G A 17: 35,472,005 (GRCm39) G348D possibly damaging Het
Dhx36 A T 3: 62,379,420 (GRCm39) S889R probably benign Het
Dtx2 T C 5: 136,041,044 (GRCm39) Y150H probably damaging Het
Epx A G 11: 87,763,506 (GRCm39) F238S probably damaging Het
Ergic2 T C 6: 148,097,512 (GRCm39) T154A probably benign Het
Esco1 A G 18: 10,594,734 (GRCm39) I184T probably benign Het
Esf1 G T 2: 139,998,991 (GRCm39) A495E possibly damaging Het
Esf1 T C 2: 140,000,499 (GRCm39) Y429C possibly damaging Het
Fcho1 C A 8: 72,169,820 (GRCm39) R101L probably benign Het
Foxn4 T A 5: 114,394,988 (GRCm39) D313V probably damaging Het
Gm11568 T C 11: 99,748,798 (GRCm39) M1T probably null Het
Gphn T A 12: 78,670,063 (GRCm39) probably null Het
Grid2 C T 6: 64,297,136 (GRCm39) Q500* probably null Het
Igsf10 A G 3: 59,233,694 (GRCm39) S1680P probably damaging Het
Ints12 T C 3: 132,806,538 (GRCm39) M155T possibly damaging Het
Invs A T 4: 48,396,307 (GRCm39) M327L possibly damaging Het
Kdm3a T C 6: 71,598,346 (GRCm39) E180G probably damaging Het
Mgat3 G A 15: 80,095,499 (GRCm39) V109M possibly damaging Het
Mrgprb3 A G 7: 48,292,762 (GRCm39) V263A probably benign Het
Mroh7 A T 4: 106,547,515 (GRCm39) V1109D probably benign Het
Myo15b A T 11: 115,757,482 (GRCm39) T1111S probably benign Het
Myo19 G T 11: 84,794,037 (GRCm39) A654S possibly damaging Het
Mypn A T 10: 62,954,307 (GRCm39) V1224D probably damaging Het
Nalcn A G 14: 123,560,706 (GRCm39) probably null Het
Or2a52 G T 6: 43,144,273 (GRCm39) A94S probably benign Het
Or52e7 A T 7: 104,684,618 (GRCm39) Y71F probably damaging Het
Or8c10 G A 9: 38,279,358 (GRCm39) C172Y possibly damaging Het
Pdcd2 A G 17: 15,743,084 (GRCm39) I247T possibly damaging Het
Pik3c2a A T 7: 115,941,636 (GRCm39) N1571K probably damaging Het
Plagl2 T C 2: 153,077,964 (GRCm39) T6A probably benign Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Sdccag8 C A 1: 176,652,458 (GRCm39) H70N probably damaging Het
Skint1 A G 4: 111,886,630 (GRCm39) R359G probably benign Het
Slc44a5 A T 3: 153,953,424 (GRCm39) I269L probably benign Het
Slfn10-ps T A 11: 82,921,341 (GRCm39) noncoding transcript Het
Suclg1 C A 6: 73,240,963 (GRCm39) T164K probably benign Het
Tgds C A 14: 118,353,491 (GRCm39) probably null Het
Ttn T C 2: 76,643,877 (GRCm39) D13117G probably damaging Het
Ttn T C 2: 76,701,081 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,483,671 (GRCm39) I843N possibly damaging Het
Vmn2r52 A T 7: 9,893,392 (GRCm39) Y582* probably null Het
Vps33b G T 7: 79,924,389 (GRCm39) K65N probably damaging Het
Zfp1010 A G 2: 176,957,364 (GRCm39) F45L probably damaging Het
Other mutations in Dctd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Dctd APN 8 48,564,697 (GRCm39) start gained probably benign
R0194:Dctd UTSW 8 48,565,113 (GRCm39) missense probably benign 0.01
R4871:Dctd UTSW 8 48,590,449 (GRCm39) intron probably benign
R5007:Dctd UTSW 8 48,590,449 (GRCm39) intron probably benign
R5008:Dctd UTSW 8 48,590,449 (GRCm39) intron probably benign
R5009:Dctd UTSW 8 48,590,449 (GRCm39) intron probably benign
R5010:Dctd UTSW 8 48,590,449 (GRCm39) intron probably benign
R5381:Dctd UTSW 8 48,590,449 (GRCm39) intron probably benign
R5382:Dctd UTSW 8 48,590,449 (GRCm39) intron probably benign
R7131:Dctd UTSW 8 48,565,075 (GRCm39) missense probably benign 0.02
R8152:Dctd UTSW 8 48,564,725 (GRCm39) missense probably benign
R8693:Dctd UTSW 8 48,565,046 (GRCm39) missense probably damaging 1.00
R8739:Dctd UTSW 8 48,591,883 (GRCm39) missense probably benign 0.00
R9009:Dctd UTSW 8 48,564,712 (GRCm39) missense probably benign
R9408:Dctd UTSW 8 48,590,385 (GRCm39) missense probably damaging 1.00
X0057:Dctd UTSW 8 48,593,395 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGTCTAGGGCTCATGTTTCATG -3'
(R):5'- ATAGCTGGGAAGTCACTGGG -3'

Sequencing Primer
(F):5'- CATGGTTTCTGCCTAATAAGTCCAG -3'
(R):5'- GATGATGAATCTTGGAAGCATCC -3'
Posted On 2016-06-06