Incidental Mutation 'R9009:Dctd'
ID 685509
Institutional Source Beutler Lab
Gene Symbol Dctd
Ensembl Gene ENSMUSG00000031562
Gene Name dCMP deaminase
Synonyms 6030466N05Rik
MMRRC Submission 068839-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9009 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 48552127-48594702 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48564712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 5 (P5S)
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 benign
Transcript: ENSMUST00000033966
AA Change: P5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033966
Gene: ENSMUSG00000031562
AA Change: P5S

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170263
AA Change: P5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126733
Gene: ENSMUSG00000031562
AA Change: P5S

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174278
AA Change: P5S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133445
Gene: ENSMUSG00000031562
AA Change: P5S

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 135 1.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174379
AA Change: P5S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134195
Gene: ENSMUSG00000031562
AA Change: P5S

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 103 3.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174818
AA Change: P5S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000134003
Gene: ENSMUSG00000031562
AA Change: P5S

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 19 131 1.5e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (58/62)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik T A 8: 120,878,279 (GRCm39) probably benign Het
Ahctf1 C T 1: 179,581,171 (GRCm39) S1677N probably benign Het
Ank2 T C 3: 126,728,025 (GRCm39) probably benign Het
Arid3c A T 4: 41,729,925 (GRCm39) I90N probably benign Het
Asb1 C A 1: 91,480,205 (GRCm39) D301E unknown Het
Asb1 T G 1: 91,480,206 (GRCm39) *302G probably null Het
Birc2 A T 9: 7,833,937 (GRCm39) F181L probably benign Het
Bnip1 T A 17: 27,001,590 (GRCm39) probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cd2ap T C 17: 43,116,135 (GRCm39) D575G possibly damaging Het
Cdca7 T A 2: 72,314,273 (GRCm39) H248Q probably damaging Het
Chd2 T C 7: 73,143,192 (GRCm39) D567G probably benign Het
Chd2 T C 7: 73,140,402 (GRCm39) I609V probably benign Het
Cnmd T A 14: 79,894,085 (GRCm39) T101S probably damaging Het
Col6a4 T C 9: 105,954,404 (GRCm39) T312A probably benign Het
Cript C A 17: 87,338,475 (GRCm39) T41N probably damaging Het
Cts6 T C 13: 61,344,261 (GRCm39) I264V probably benign Het
Cyp4a32 C T 4: 115,467,802 (GRCm39) T262I probably null Het
D430041D05Rik T A 2: 104,240,521 (GRCm39) probably benign Het
Det1 T C 7: 78,492,984 (GRCm39) N340S probably benign Het
Dnah7b A G 1: 46,262,232 (GRCm39) N2032D probably benign Het
Dscam T A 16: 96,840,116 (GRCm39) T164S probably benign Het
Emcn T C 3: 137,124,775 (GRCm39) V196A possibly damaging Het
Fbxo32 A G 15: 58,046,358 (GRCm39) I284T possibly damaging Het
Gimap3 C A 6: 48,742,094 (GRCm39) D279Y possibly damaging Het
Gm43302 C T 5: 105,427,974 (GRCm39) D196N probably benign Het
Gpc6 C A 14: 117,424,217 (GRCm39) H102N possibly damaging Het
Gpr158 A T 2: 21,581,760 (GRCm39) D413V probably damaging Het
Ifi207 T C 1: 173,555,382 (GRCm39) R767G probably damaging Het
Kcnip2 T C 19: 45,800,634 (GRCm39) probably benign Het
Kifap3 A C 1: 163,696,291 (GRCm39) D640A probably damaging Het
Lmbrd2 A T 15: 9,157,311 (GRCm39) Q183L possibly damaging Het
Malt1 A G 18: 65,577,911 (GRCm39) I135V probably benign Het
Mfhas1 T C 8: 36,057,109 (GRCm39) V528A probably damaging Het
Mllt10 T C 2: 18,167,163 (GRCm39) S363P probably damaging Het
Mrnip A G 11: 50,073,323 (GRCm39) Y44C probably damaging Het
Mstn C T 1: 53,103,131 (GRCm39) Q156* probably null Het
Mtmr7 T C 8: 41,008,904 (GRCm39) D469G possibly damaging Het
Muc6 A G 7: 141,217,018 (GRCm39) S2552P possibly damaging Het
Myo1f C A 17: 33,823,662 (GRCm39) N1063K probably benign Het
Or52k2 T A 7: 102,253,642 (GRCm39) I27N probably benign Het
Or5af1 A T 11: 58,722,280 (GRCm39) Y100F probably benign Het
Or6z5 G A 7: 6,477,399 (GRCm39) V97M probably benign Het
Orai2 A G 5: 136,179,430 (GRCm39) V201A possibly damaging Het
Pcdhga6 A T 18: 37,841,878 (GRCm39) T533S possibly damaging Het
Pkd1l1 T A 11: 8,881,552 (GRCm39) K907N Het
Plaat5 G T 19: 7,614,823 (GRCm39) M228I probably benign Het
Ppp1r15a A T 7: 45,174,049 (GRCm39) V253E probably benign Het
Ppp1r9b A G 11: 94,887,467 (GRCm39) E493G probably benign Het
Prdm1 T C 10: 44,322,997 (GRCm39) N151S probably benign Het
Prkcd C T 14: 30,329,297 (GRCm39) A163T probably damaging Het
Prl7a2 T A 13: 27,849,994 (GRCm39) E26V probably damaging Het
Ptprm A T 17: 66,996,354 (GRCm39) N1278K probably damaging Het
Ptprz1 T A 6: 23,001,653 (GRCm39) S1248T possibly damaging Het
Scn9a T C 2: 66,338,927 (GRCm39) I1186M probably damaging Het
Sv2a T C 3: 96,094,409 (GRCm39) F248S probably benign Het
Tas2r116 T A 6: 132,832,963 (GRCm39) I188K probably damaging Het
Tcf21 T C 10: 22,693,671 (GRCm39) T169A probably benign Het
Tecrl C A 5: 83,432,121 (GRCm39) C258F probably damaging Het
Tet2 T A 3: 133,193,360 (GRCm39) E358V possibly damaging Het
Thada A T 17: 84,759,203 (GRCm39) S219T possibly damaging Het
Tpgs2 T A 18: 25,301,777 (GRCm39) probably benign Het
Ttc6 A T 12: 57,744,219 (GRCm39) I1284F probably damaging Het
Vmn1r160 T C 7: 22,571,127 (GRCm39) V160A possibly damaging Het
Vmn1r44 T C 6: 89,870,671 (GRCm39) L139P 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
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
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'- TTCTCTTTAGACCAGGATGCTC -3'
(R):5'- GAGATGATGAATCTTGGAAGCATC -3'

Sequencing Primer
(F):5'- AGACCAGGATGCTCTCTTTGAAGTC -3'
(R):5'- GGAGTTCTGAGTTGCCAAACTATCC -3'
Posted On 2021-10-11