Incidental Mutation 'R8693:Dctd'
ID 668505
Institutional Source Beutler Lab
Gene Symbol Dctd
Ensembl Gene ENSMUSG00000031562
Gene Name dCMP deaminase
Synonyms 6030466N05Rik
MMRRC Submission 068547-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8693 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 48552127-48594702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48565046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 57 (I57N)
Ref Sequence ENSEMBL: ENSMUSP00000033966 (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: I57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033966
Gene: ENSMUSG00000031562
AA Change: I57N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 5e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170263
AA Change: I57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126733
Gene: ENSMUSG00000031562
AA Change: I57N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174278
AA Change: I57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133445
Gene: ENSMUSG00000031562
AA Change: I57N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174379
AA Change: I57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134195
Gene: ENSMUSG00000031562
AA Change: I57N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 103 3.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174818
AA Change: I57N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134003
Gene: ENSMUSG00000031562
AA Change: I57N

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 131 1.5e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,810,474 (GRCm39) S924P probably benign Het
Acacb A G 5: 114,364,844 (GRCm39) H1508R probably damaging Het
Adam34 T C 8: 44,104,641 (GRCm39) M335V probably benign Het
Akap8 A T 17: 32,529,625 (GRCm39) N438K probably damaging Het
Alpi C A 1: 87,026,405 (GRCm39) G529C unknown Het
Arhgap30 T C 1: 171,225,094 (GRCm39) V50A probably damaging Het
Armh1 T C 4: 117,088,960 (GRCm39) E145G probably damaging Het
Ccdc177 A G 12: 80,804,582 (GRCm39) L564P unknown Het
Cdk12 C T 11: 98,141,133 (GRCm39) P1458L unknown Het
Chek1 A G 9: 36,625,140 (GRCm39) F314L probably benign Het
Cndp1 T C 18: 84,646,938 (GRCm39) D250G probably damaging Het
Cnot3 T C 7: 3,656,522 (GRCm39) V239A probably benign Het
Cplane1 T C 15: 8,258,492 (GRCm39) M2246T probably benign Het
Crhr2 A G 6: 55,079,779 (GRCm39) F187S possibly damaging Het
Dchs2 T A 3: 83,192,631 (GRCm39) V1692D probably damaging Het
Dennd5b A T 6: 148,911,272 (GRCm39) L977* probably null Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dysf T C 6: 84,088,952 (GRCm39) S865P probably damaging Het
Eif2ak3 A T 6: 70,858,535 (GRCm39) I275F possibly damaging Het
Eif2ak4 T A 2: 118,262,718 (GRCm39) I757N probably damaging Het
Exog A G 9: 119,276,108 (GRCm39) Q110R possibly damaging Het
Fbxl4 T C 4: 22,403,704 (GRCm39) C426R probably benign Het
Fndc11 A C 2: 180,863,864 (GRCm39) H223P probably damaging Het
Frmd3 T A 4: 74,080,286 (GRCm39) S334R probably damaging Het
Galnt14 A T 17: 73,833,257 (GRCm39) I239N probably damaging Het
Gm5930 C T 14: 44,576,015 (GRCm39) M1I probably null Het
Igkv4-63 A G 6: 69,355,051 (GRCm39) S77P probably benign Het
Igkv5-48 G A 6: 69,703,779 (GRCm39) S42F probably damaging Het
Kalrn T A 16: 33,854,884 (GRCm39) Y1992F probably damaging Het
Kmt2a T C 9: 44,721,981 (GRCm39) Y3788C unknown Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lpo T C 11: 87,700,066 (GRCm39) N525S probably benign Het
Med1 T C 11: 98,046,599 (GRCm39) H1399R unknown Het
Mga T A 2: 119,794,407 (GRCm39) V2697E possibly damaging Het
Msto1 T C 3: 88,819,184 (GRCm39) T188A probably benign Het
Nrap T C 19: 56,310,384 (GRCm39) H1456R probably damaging Het
Or10d1 G T 9: 39,483,800 (GRCm39) P252T probably damaging Het
Pbld1 A T 10: 62,910,890 (GRCm39) K248* probably null Het
Pcdhb12 G A 18: 37,570,474 (GRCm39) R540H probably benign Het
Pcx G T 19: 4,652,039 (GRCm39) A96S probably damaging Het
Plcb1 A G 2: 135,094,696 (GRCm39) I174V probably benign Het
Psme3 T C 11: 101,211,422 (GRCm39) I193T probably damaging Het
Pygl A T 12: 70,244,180 (GRCm39) M587K probably benign Het
Rph3a A T 5: 121,100,501 (GRCm39) H132Q probably damaging Het
Scrib C A 15: 75,936,354 (GRCm39) D501Y probably damaging Het
Sdad1 C A 5: 92,452,857 (GRCm39) R127L probably benign Het
Setdb1 T C 3: 95,249,041 (GRCm39) T356A probably damaging Het
Sh3bgrl3 T C 4: 133,855,116 (GRCm39) D73G probably benign Het
Sipa1l1 G T 12: 82,216,517 (GRCm39) probably benign Het
Slc17a8 G A 10: 89,428,758 (GRCm39) A261V probably benign Het
Sox6 T A 7: 115,261,632 (GRCm39) I195F probably damaging Het
Syne1 T C 10: 5,090,928 (GRCm39) K809E possibly damaging Het
Tmem30c G A 16: 57,086,855 (GRCm39) T316M probably damaging Het
Tnfrsf19 T C 14: 61,208,451 (GRCm39) T357A probably benign Het
Top2a T A 11: 98,900,868 (GRCm39) T574S probably damaging Het
Trappc3l G A 10: 33,974,917 (GRCm39) C133Y probably damaging Het
Unk C T 11: 115,938,640 (GRCm39) T81I probably damaging Het
Vamp1 G A 6: 125,217,388 (GRCm39) R144K unknown Het
Wnt9b T C 11: 103,624,487 (GRCm39) N101S probably damaging Het
Wwtr1 T A 3: 57,369,945 (GRCm39) D390V 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
R5083:Dctd UTSW 8 48,564,751 (GRCm39) missense probably damaging 1.00
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
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'- CAAGGACCCAAGTTCCCAGG -3'
(R):5'- CCATCTATTGACTAAAAGGAAAAGACG -3'

Sequencing Primer
(F):5'- CCAAGTTCCCAGGTAAACTTGTGG -3'
(R):5'- GACGAACTCTTTCAATCAACAGG -3'
Posted On 2021-04-30