Mutagenetix > Incidental Mutations

Incidental Mutation 'R5083:Dctd'

387258

Institutional Source

Beutler Lab

Gene Symbol

Dctd

Ensembl Gene

ENSMUSG00000031562

Gene Name

dCMP deaminase

Synonyms

MMRRC Submission

042672-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48099092-48153233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48111716 bp

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]

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

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 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

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 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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	C	T	17: 48,166,390	V120M	possibly damaging	Het
Abca6	T	C	11: 110,218,967	D646G	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Arid1b	A	G	17: 5,314,018	T554A	possibly damaging	Het
Atp2a3	G	T	11: 72,982,826	V824L	probably null	Het
Bet1	T	C	6: 4,077,895	I115V	possibly damaging	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Cfap65	A	G	1: 74,906,441	S1373P	probably damaging	Het
Chd9	T	C	8: 90,984,374	L353P	probably damaging	Het
Chil3	C	A	3: 106,164,089		probably null	Het
Comp	C	T	8: 70,381,300	T655M	probably damaging	Het
Ddx39b	G	A	17: 35,253,029	G348D	possibly damaging	Het
Dhx36	A	T	3: 62,471,999	S889R	probably benign	Het
Dtx2	T	C	5: 136,012,190	Y150H	probably damaging	Het
Epx	A	G	11: 87,872,680	F238S	probably damaging	Het
Ergic2	T	C	6: 148,196,014	T154A	probably benign	Het
Esco1	A	G	18: 10,594,734	I184T	probably benign	Het
Esf1	G	T	2: 140,157,071	A495E	possibly damaging	Het
Esf1	T	C	2: 140,158,579	Y429C	possibly damaging	Het
Fcho1	C	A	8: 71,717,176	R101L	probably benign	Het
Foxn4	T	A	5: 114,256,927	D313V	probably damaging	Het
Gm11568	T	C	11: 99,857,972	M1T	probably null	Het
Gm14409	A	G	2: 177,265,571	F45L	probably damaging	Het
Gphn	T	A	12: 78,623,289		probably null	Het
Grid2	C	T	6: 64,320,152	Q500*	probably null	Het
Igsf10	A	G	3: 59,326,273	S1680P	probably damaging	Het
Ints12	T	C	3: 133,100,777	M155T	possibly damaging	Het
Invs	A	T	4: 48,396,307	M327L	possibly damaging	Het
Kdm3a	T	C	6: 71,621,362	E180G	probably damaging	Het
Mgat3	G	A	15: 80,211,298	V109M	possibly damaging	Het
Mrgprb3	A	G	7: 48,643,014	V263A	probably benign	Het
Mroh7	A	T	4: 106,690,318	V1109D	probably benign	Het
Myo15b	A	T	11: 115,866,656	T1111S	probably benign	Het
Myo19	G	T	11: 84,903,211	A654S	possibly damaging	Het
Mypn	A	T	10: 63,118,528	V1224D	probably damaging	Het
Nalcn	A	G	14: 123,323,294		probably null	Het
Olfr250	G	A	9: 38,368,062	C172Y	possibly damaging	Het
Olfr437	G	T	6: 43,167,339	A94S	probably benign	Het
Olfr676	A	T	7: 105,035,411	Y71F	probably damaging	Het
Pdcd2	A	G	17: 15,522,822	I247T	possibly damaging	Het
Pik3c2a	A	T	7: 116,342,401	N1571K	probably damaging	Het
Plagl2	T	C	2: 153,236,044	T6A	probably benign	Het
Ros1	T	A	10: 52,163,941	Y318F	possibly damaging	Het
Sdccag8	C	A	1: 176,824,892	H70N	probably damaging	Het
Skint1	A	G	4: 112,029,433	R359G	probably benign	Het
Slc44a5	A	T	3: 154,247,787	I269L	probably benign	Het
Slfn10-ps	T	A	11: 83,030,515		noncoding transcript	Het
Suclg1	C	A	6: 73,263,980	T164K	probably benign	Het
Tgds	C	A	14: 118,116,079		probably null	Het
Ttn	T	C	2: 76,813,533	D13117G	probably damaging	Het
Ttn	T	C	2: 76,870,737		probably benign	Het
Vmn2r28	A	T	7: 5,480,672	I843N	possibly damaging	Het
Vmn2r52	A	T	7: 10,159,465	Y582*	probably null	Het
Vps33b	G	T	7: 80,274,641	K65N	probably damaging	Het

Other mutations in Dctd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01912:Dctd	APN	8	48111662	start gained	probably benign
R0194:Dctd	UTSW	8	48112078	missense	probably benign	0.01
R4871:Dctd	UTSW	8	48137414	intron	probably benign
R5007:Dctd	UTSW	8	48137414	intron	probably benign
R5008:Dctd	UTSW	8	48137414	intron	probably benign
R5009:Dctd	UTSW	8	48137414	intron	probably benign
R5010:Dctd	UTSW	8	48137414	intron	probably benign
R5381:Dctd	UTSW	8	48137414	intron	probably benign
R5382:Dctd	UTSW	8	48137414	intron	probably benign
R7131:Dctd	UTSW	8	48112040	missense	probably benign	0.02
X0057:Dctd	UTSW	8	48140360	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