Mutagenetix > Incidental Mutation

Incidental Mutation 'R5008:Dctd'

390288

Institutional Source

Beutler Lab

Gene Symbol

Dctd

Ensembl Gene

ENSMUSG00000031562

Gene Name

dCMP deaminase

Synonyms

6030466N05Rik

MMRRC Submission

042599-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5008 (G1)

Quality Score

225

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: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (73/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
2310057N15Rik	A	G	16: 88,570,663 (GRCm39)	Y126H	probably damaging	Het
Catsperg1	A	T	7: 28,894,859 (GRCm39)	Y579*	probably null	Het
Chchd5	A	T	2: 128,972,319 (GRCm39)		probably null	Het
Chd1l	T	C	3: 97,491,224 (GRCm39)	N423D	probably damaging	Het
Cntnap1	G	A	11: 101,079,567 (GRCm39)	W1268*	probably null	Het
Col2a1	G	A	15: 97,877,550 (GRCm39)	A1011V	probably benign	Het
Cst11	A	G	2: 148,612,325 (GRCm39)	I104T	probably benign	Het
Dnaaf4	T	C	9: 72,879,600 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 118,001,403 (GRCm39)	F847L	probably benign	Het
Dspp	A	T	5: 104,323,439 (GRCm39)	H194L	possibly damaging	Het
Dync2i2	C	A	2: 29,922,781 (GRCm39)	R322L	probably benign	Het
Frmd5	C	A	2: 121,379,341 (GRCm39)	R414L	probably damaging	Het
Galnt3	C	A	2: 65,915,585 (GRCm39)	R592L	probably benign	Het
Gm38706	T	A	6: 130,461,580 (GRCm39)		noncoding transcript	Het
Gm38706	T	A	6: 130,461,983 (GRCm39)		noncoding transcript	Het
Hivep3	A	G	4: 119,956,114 (GRCm39)	K1477E	probably benign	Het
Igsf3	C	T	3: 101,358,233 (GRCm39)	T708M	probably damaging	Het
Ikzf4	T	G	10: 128,477,119 (GRCm39)	E64A	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Krt87	T	A	15: 101,389,105 (GRCm39)	I76F	probably damaging	Het
Lat2	A	G	5: 134,631,991 (GRCm39)	V152A	probably benign	Het
Lrp12	C	T	15: 39,741,852 (GRCm39)	D288N	probably damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myh4	T	A	11: 67,144,358 (GRCm39)	S1243T	probably benign	Het
Myo3b	T	A	2: 70,088,412 (GRCm39)	F892I	probably damaging	Het
Nckap5l	T	C	15: 99,323,731 (GRCm39)	N924S	possibly damaging	Het
Npnt	C	T	3: 132,612,218 (GRCm39)	C218Y	probably damaging	Het
Or2a20	T	A	6: 43,193,991 (GRCm39)	I48N	probably damaging	Het
Or2d2b	A	T	7: 106,705,288 (GRCm39)	M260K	probably damaging	Het
Or7a42	T	A	10: 78,791,905 (GRCm39)	F289I	probably damaging	Het
Pfkm	G	A	15: 98,020,570 (GRCm39)	C233Y	probably benign	Het
Pigq	A	G	17: 26,153,177 (GRCm39)	V338A	probably benign	Het
Pld4	A	T	12: 112,734,484 (GRCm39)	N415I	possibly damaging	Het
Pmm1	A	T	15: 81,842,095 (GRCm39)		probably null	Het
Polg	G	T	7: 79,109,822 (GRCm39)	P394T	probably damaging	Het
Polq	A	T	16: 36,882,749 (GRCm39)	I1359L	probably benign	Het
Pramel30	A	G	4: 144,057,836 (GRCm39)	S148G	probably benign	Het
Pros1	A	G	16: 62,748,548 (GRCm39)	N674D	possibly damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,634,959 (GRCm39)	C453*	probably null	Het
Repin1	T	C	6: 48,573,542 (GRCm39)	V101A	probably damaging	Het
Rnf186	A	T	4: 138,694,540 (GRCm39)	M27L	probably benign	Het
Rpa1	A	G	11: 75,204,125 (GRCm39)		probably null	Het
Rph3a	G	T	5: 121,083,454 (GRCm39)	N605K	probably damaging	Het
Rps18	A	T	17: 34,171,258 (GRCm39)		probably null	Het
Scgn	A	G	13: 24,174,958 (GRCm39)	I20T	probably damaging	Het
Skint6	A	T	4: 112,848,452 (GRCm39)	V652E	possibly damaging	Het
Slc23a2	T	C	2: 131,943,414 (GRCm39)	H29R	probably damaging	Het
Slc34a3	C	T	2: 25,120,854 (GRCm39)	V383I	possibly damaging	Het
Slc5a1	A	G	5: 33,309,917 (GRCm39)	M382V	possibly damaging	Het
Slc5a3	T	A	16: 91,874,169 (GRCm39)	S75R	probably damaging	Het
Stat5b	G	C	11: 100,693,309 (GRCm39)	H111D	probably benign	Het
Tanc2	G	A	11: 105,515,886 (GRCm39)	M1I	probably null	Het
Tbcel	C	T	9: 42,327,419 (GRCm39)	G328E	probably damaging	Het
Tecta	C	A	9: 42,284,358 (GRCm39)	R909L	possibly damaging	Het
Tnip1	A	T	11: 54,828,810 (GRCm39)	M119K	probably benign	Het
Zbbx	A	C	3: 75,058,755 (GRCm39)	S51A	possibly damaging	Het
Zc3h12c	T	C	9: 52,028,000 (GRCm39)	N454S	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	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
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
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'- AATTAAGTCTCGGAATACCTGGC -3'

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

Posted On

2016-06-06