Mutagenetix > Incidental Mutation

Incidental Mutation 'R2087:Ctps1'

231508

Institutional Source

Beutler Lab

Gene Symbol

Ctps1

Ensembl Gene

ENSMUSG00000028633

Gene Name

cytidine 5'-triphosphate synthase 1

Synonyms

Ctps

MMRRC Submission

040092-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R2087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120397065-120427473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120420012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 134 (D134G)

Ref Sequence

ENSEMBL: ENSMUSP00000030381 (fasta)

Gene Model

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

AlphaFold

P70698

Predicted Effect

probably benign
Transcript: ENSMUST00000030381
AA Change: D134G

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: D134G

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

Meta Mutation Damage Score

0.3283

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

95% (57/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021P04Rik	T	A	19: 24,042,364 (GRCm39)		noncoding transcript	Het
Adamts8	G	A	9: 30,873,408 (GRCm39)	R871Q	probably damaging	Het
Ank1	T	C	8: 23,583,827 (GRCm39)	L310S	probably damaging	Het
Atp2a3	A	G	11: 72,871,274 (GRCm39)	T592A	probably damaging	Het
Bpifb6	A	G	2: 153,747,998 (GRCm39)	D219G	possibly damaging	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccdc14	T	C	16: 34,516,015 (GRCm39)		probably null	Het
Ces1c	A	C	8: 93,834,230 (GRCm39)	N353K	probably benign	Het
Chrna6	T	A	8: 27,897,155 (GRCm39)	M241L	probably benign	Het
Chtf8	T	A	8: 107,612,568 (GRCm39)	R124*	probably null	Het
Cpt1b	A	G	15: 89,306,411 (GRCm39)	V296A	probably benign	Het
Cryl1	G	A	14: 57,513,402 (GRCm39)	S273L	possibly damaging	Het
Cyp4f18	T	C	8: 72,754,832 (GRCm39)	M138V	probably benign	Het
Dnajb12	A	G	10: 59,726,667 (GRCm39)	K107R	possibly damaging	Het
Epha1	C	T	6: 42,340,502 (GRCm39)	D590N	probably benign	Het
Fndc3b	A	G	3: 27,505,703 (GRCm39)	V855A	probably benign	Het
Ganc	A	G	2: 120,287,738 (GRCm39)	Y822C	probably damaging	Het
Hook2	A	G	8: 85,729,320 (GRCm39)	D622G	probably damaging	Het
Kcnj8	T	A	6: 142,511,422 (GRCm39)	N395I	probably benign	Het
Kdm4b	T	C	17: 56,696,564 (GRCm39)	S427P	possibly damaging	Het
Krt12	A	G	11: 99,309,459 (GRCm39)	F267S	probably damaging	Het
Lrrn2	T	G	1: 132,865,489 (GRCm39)	F185V	probably damaging	Het
Mecom	A	G	3: 30,006,963 (GRCm39)	S764P	probably benign	Het
Mfsd14b	C	G	13: 65,215,796 (GRCm39)	G386R	probably damaging	Het
Mrm2	A	G	5: 140,314,155 (GRCm39)	S227P	probably damaging	Het
Mug1	A	G	6: 121,833,250 (GRCm39)	N285S	probably benign	Het
Nalcn	T	C	14: 123,518,557 (GRCm39)	T1661A	probably benign	Het
Ncoa6	G	A	2: 155,248,079 (GRCm39)	R1742*	probably null	Het
Nln	T	A	13: 104,173,877 (GRCm39)	H548L	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or2r3	A	T	6: 42,448,985 (GRCm39)	N42K	probably damaging	Het
Or56b34	T	A	7: 104,937,393 (GRCm39)	I31N	probably benign	Het
Pgm5	T	C	19: 24,710,927 (GRCm39)	Y425C	probably damaging	Het
Pld2	A	G	11: 70,433,786 (GRCm39)	D242G	probably damaging	Het
Plekhm1	A	G	11: 103,287,851 (GRCm39)		probably null	Het
Ptdss1	T	C	13: 67,124,881 (GRCm39)		probably benign	Het
Pyroxd2	G	T	19: 42,722,209 (GRCm39)	L415I	probably benign	Het
Rapgef6	A	G	11: 54,522,075 (GRCm39)	T291A	probably damaging	Het
Rb1	A	G	14: 73,517,692 (GRCm39)	I238T	probably benign	Het
Rp1	G	A	1: 4,418,575 (GRCm39)	H846Y	probably damaging	Het
Rpgrip1	T	A	14: 52,374,079 (GRCm39)		probably null	Het
Scaf4	T	C	16: 90,049,313 (GRCm39)	D258G	unknown	Het
Ska1	A	T	18: 74,339,920 (GRCm39)	C9S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc43a1	G	A	2: 84,680,175 (GRCm39)	R107Q	probably damaging	Het
Slc44a3	T	A	3: 121,319,319 (GRCm39)	N141Y	probably damaging	Het
Slit1	A	T	19: 41,625,922 (GRCm39)	D613E	probably benign	Het
Spata22	A	T	11: 73,231,079 (GRCm39)	Y111F	probably benign	Het
Tchh	C	A	3: 93,351,225 (GRCm39)	R222S	unknown	Het
Tekt3	A	G	11: 62,985,523 (GRCm39)	D443G	possibly damaging	Het
Tns2	A	T	15: 102,015,554 (GRCm39)	Q144L	possibly damaging	Het
Troap	T	C	15: 98,976,698 (GRCm39)	V274A	possibly damaging	Het
Ugt1a8	A	G	1: 88,015,995 (GRCm39)	Y136C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,458 (GRCm39)	M604L	probably benign	Het
Vps13b	T	A	15: 35,597,639 (GRCm39)	W1060R	probably damaging	Het
Wdfy3	A	G	5: 102,042,926 (GRCm39)	S1942P	probably damaging	Het
Wdr90	G	A	17: 26,065,577 (GRCm39)	T1596I	probably damaging	Het
Zc3h4	A	G	7: 16,150,865 (GRCm39)	E69G	possibly 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
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
R5045:Ctps1	UTSW	4	120,410,075 (GRCm39)	critical splice donor site	probably null
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'- CCTACTGGTGGTTAAGGAGAGG -3'
(R):5'- CTAGGGAAGTGTGAGCCCAAAC -3'

Sequencing Primer
(F):5'- GGTGGCTCACAATCATCCATAATG -3'
(R):5'- GTGTGAGCCCAAACATTTATTGAGTC -3'

Posted On

2014-09-18