Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Dctd'

390358

Institutional Source

Beutler Lab

Gene Symbol

Dctd

Ensembl Gene

ENSMUSG00000031562

Gene Name

dCMP deaminase

Synonyms

6030466N05Rik

MMRRC Submission

042600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5009 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

48552127-48594702 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 48590449 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	19	135	1.2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174379

SMART Domains

Protein: ENSMUSP00000134195
Gene: ENSMUSG00000031562

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	19	103	3.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174818

SMART Domains

Protein: ENSMUSP00000134003
Gene: ENSMUSG00000031562

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	19	131	1.5e-27	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,282,932 (GRCm39)	Y5H	probably damaging	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Ets1	T	C	9: 32,644,295 (GRCm39)	S152P	possibly damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Flrt2	T	C	12: 95,746,547 (GRCm39)	V295A	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Klhdc1	T	C	12: 69,298,712 (GRCm39)	V99A	possibly damaging	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mtbp	A	G	15: 55,466,583 (GRCm39)	D532G	probably benign	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or2ad1	T	C	13: 21,326,435 (GRCm39)	N264S	probably benign	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Runx1t1	T	C	4: 13,865,231 (GRCm39)	I314T	possibly damaging	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	probably benign	Het

Other mutations in Dctd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCTATTTCCAAGGTGGTGACAG -3'
(R):5'- ATTAAGTCTCGGAATACCTGGC -3'

Sequencing Primer
(F):5'- TTCATGAGCTACAGTCCAAGTC -3'
(R):5'- GTCTCGGAATACCTGGCACCAC -3'

Posted On

2016-06-06