Mutagenetix > Incidental Mutation

Incidental Mutation 'R5045:Ctps1'

394311

Institutional Source

Beutler Lab

Gene Symbol

Ctps1

Ensembl Gene

ENSMUSG00000028633

Gene Name

cytidine 5'-triphosphate synthase 1

Synonyms

Ctps

MMRRC Submission

042635-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R5045 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120397065-120427473 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 120410075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030381]

AlphaFold

P70698

Predicted Effect

probably null
Transcript: ENSMUST00000030381

SMART Domains

Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633

Domain	Start	End	E-Value	Type
Pfam:CTP_synth_N	2	277	2.8e-135	PFAM
Pfam:GATase	309	546	6.7e-55	PFAM
Pfam:Peptidase_C26	378	528	3.8e-10	PFAM
low complexity region	565	578	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140891

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,530,327 (GRCm39)		probably benign	Het
2210408I21Rik	A	G	13: 77,415,927 (GRCm39)		probably null	Het
4930519P11Rik	A	T	2: 154,454,950 (GRCm39)	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,454,982 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,860 (GRCm39)	H1189L	probably damaging	Het
Arhgap24	A	G	5: 103,039,743 (GRCm39)	I227V	possibly damaging	Het
Arhgap29	C	A	3: 121,796,244 (GRCm39)	N445K	probably benign	Het
Atp13a3	T	C	16: 30,158,694 (GRCm39)	H811R	probably benign	Het
Cd2ap	T	C	17: 43,118,851 (GRCm39)	N529S	probably benign	Het
Cdh20	T	A	1: 110,026,080 (GRCm39)	S439T	probably benign	Het
Ces3a	G	T	8: 105,777,248 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,230,080 (GRCm39)	N408K	probably benign	Het
Chil5	T	C	3: 105,931,456 (GRCm39)	N136S	possibly damaging	Het
Col20a1	A	G	2: 180,648,638 (GRCm39)	D933G	probably damaging	Het
Crh	A	T	3: 19,748,153 (GRCm39)	L163*	probably null	Het
Cyb5d2	A	G	11: 72,686,401 (GRCm39)	V63A	probably damaging	Het
Cyp2d11	T	A	15: 82,275,272 (GRCm39)		probably null	Het
Dclk3	A	T	9: 111,296,856 (GRCm39)	E133D	probably damaging	Het
Dhrs9	A	G	2: 69,223,339 (GRCm39)	D29G	probably benign	Het
Disp2	G	A	2: 118,622,543 (GRCm39)	E1092K	probably benign	Het
Enpp3	A	G	10: 24,652,665 (GRCm39)	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,102,427 (GRCm39)	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,568,711 (GRCm39)	I272V	probably benign	Het
Fgb	T	C	3: 82,950,680 (GRCm39)	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,683,695 (GRCm39)	S142T	unknown	Het
Golga4	A	G	9: 118,394,724 (GRCm39)	T9A	probably benign	Het
Hmcn2	C	T	2: 31,299,093 (GRCm39)	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,547,440 (GRCm39)	G34R	probably damaging	Het
Kalrn	A	C	16: 34,134,722 (GRCm39)	Y353*	probably null	Het
Klrk1	T	C	6: 129,594,466 (GRCm39)	Y42C	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mbtd1	T	C	11: 93,822,641 (GRCm39)	Y484H	probably benign	Het
Mki67	T	C	7: 135,309,633 (GRCm39)	R273G	possibly damaging	Het
Myh11	A	T	16: 14,057,391 (GRCm39)	L308*	probably null	Het
Nacc2	G	A	2: 25,980,150 (GRCm39)		probably null	Het
Nadsyn1	A	G	7: 143,360,706 (GRCm39)	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,110,172 (GRCm39)	Q354L	probably benign	Het
Or10ag58	A	T	2: 87,265,490 (GRCm39)	I220L	probably damaging	Het
Or52r1c	G	A	7: 102,735,664 (GRCm39)	G308E	probably benign	Het
Phactr3	T	C	2: 177,973,412 (GRCm39)	I470T	probably damaging	Het
Pkd1l3	C	T	8: 110,349,787 (GRCm39)	P211S	unknown	Het
Potefam1	T	A	2: 111,023,804 (GRCm39)	Q110L	unknown	Het
Prickle2	T	C	6: 92,353,375 (GRCm39)	D753G	probably damaging	Het
Prr12	A	G	7: 44,699,318 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,166,477 (GRCm39)	E917G	probably damaging	Het
Rgsl1	T	A	1: 153,697,268 (GRCm39)	K551*	probably null	Het
Stag3	T	C	5: 138,302,740 (GRCm39)	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,570,618 (GRCm39)	Q378L	possibly damaging	Het
Tdpoz8	G	T	3: 92,981,524 (GRCm39)	D181Y	probably damaging	Het
Tespa1	A	T	10: 130,197,904 (GRCm39)	K309*	probably null	Het
Trim69	A	G	2: 122,004,727 (GRCm39)	T275A	probably benign	Het
Txndc17	T	C	11: 72,098,537 (GRCm39)	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,622,751 (GRCm39)	F72L	probably damaging	Het
Vmn2r59	A	T	7: 41,695,496 (GRCm39)	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,273,597 (GRCm39)	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159 (GRCm39)	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,099,182 (GRCm39)	H375R	probably damaging	Het

Other mutations in Ctps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Ctps1	APN	4	120,410,141 (GRCm39)	missense	probably damaging	1.00
IGL00919:Ctps1	APN	4	120,424,545 (GRCm39)	missense	probably benign	0.03
IGL01510:Ctps1	APN	4	120,416,041 (GRCm39)	missense	probably damaging	0.98
IGL01686:Ctps1	APN	4	120,411,183 (GRCm39)	missense	probably benign
IGL01897:Ctps1	APN	4	120,424,476 (GRCm39)	missense	probably damaging	1.00
IGL02261:Ctps1	APN	4	120,399,776 (GRCm39)	missense	possibly damaging	0.53
IGL02797:Ctps1	APN	4	120,420,021 (GRCm39)	missense	probably benign	0.03
R0125:Ctps1	UTSW	4	120,418,722 (GRCm39)	splice site	probably benign
R1053:Ctps1	UTSW	4	120,400,919 (GRCm39)	splice site	probably null
R2087:Ctps1	UTSW	4	120,420,012 (GRCm39)	missense	probably benign	0.12
R3736:Ctps1	UTSW	4	120,400,943 (GRCm39)	missense	probably benign
R3928:Ctps1	UTSW	4	120,399,093 (GRCm39)	missense	probably benign
R3929:Ctps1	UTSW	4	120,399,093 (GRCm39)	missense	probably benign
R4193:Ctps1	UTSW	4	120,405,335 (GRCm39)	missense	probably damaging	1.00
R4389:Ctps1	UTSW	4	120,415,987 (GRCm39)	missense	probably damaging	1.00
R4853:Ctps1	UTSW	4	120,411,207 (GRCm39)	missense	probably damaging	1.00
R5074:Ctps1	UTSW	4	120,411,170 (GRCm39)	missense	probably damaging	1.00
R5566:Ctps1	UTSW	4	120,411,300 (GRCm39)	splice site	probably null
R6235:Ctps1	UTSW	4	120,416,003 (GRCm39)	missense	probably benign	0.42
R6828:Ctps1	UTSW	4	120,405,335 (GRCm39)	missense	probably damaging	1.00
R7232:Ctps1	UTSW	4	120,405,321 (GRCm39)	missense	probably damaging	1.00
R7487:Ctps1	UTSW	4	120,415,997 (GRCm39)	missense	probably damaging	1.00
R8697:Ctps1	UTSW	4	120,399,947 (GRCm39)	missense	probably benign
R8821:Ctps1	UTSW	4	120,424,507 (GRCm39)	missense	possibly damaging	0.72
R8831:Ctps1	UTSW	4	120,424,507 (GRCm39)	missense	possibly damaging	0.72
R8975:Ctps1	UTSW	4	120,406,743 (GRCm39)	missense	probably benign	0.10
R9024:Ctps1	UTSW	4	120,406,707 (GRCm39)	nonsense	probably null
R9677:Ctps1	UTSW	4	120,410,092 (GRCm39)	missense	probably benign	0.06
X0027:Ctps1	UTSW	4	120,411,290 (GRCm39)	missense	probably damaging	1.00
X0062:Ctps1	UTSW	4	120,399,814 (GRCm39)	missense	probably benign
Z1176:Ctps1	UTSW	4	120,399,940 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGAGTCTTTGACCAATCCCAAC -3'
(R):5'- AGTCTCCTGATGGCATGGAC -3'

Sequencing Primer
(F):5'- GCTTAATCCCTAAAACTGACATTGTG -3'
(R):5'- GGCATGGACATTACACGTAACTGTC -3'

Posted On

2016-06-15