Mutagenetix > Incidental Mutation

Incidental Mutation 'R4193:Ctps1'

318394

Institutional Source

Beutler Lab

Gene Symbol

Ctps1

Ensembl Gene

ENSMUSG00000028633

Gene Name

cytidine 5'-triphosphate synthase 1

Synonyms

Ctps

MMRRC Submission

041024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R4193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120397065-120427473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120405335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 369 (V369A)

Ref Sequence

ENSEMBL: ENSMUSP00000030381 (fasta)

Gene Model

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

AlphaFold

P70698

Predicted Effect

probably damaging
Transcript: ENSMUST00000030381
AA Change: V369A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: V369A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147980

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,765,068 (GRCm39)		probably null	Het
Acap3	A	G	4: 155,986,234 (GRCm39)	T285A	probably benign	Het
Adam20	A	T	8: 41,248,352 (GRCm39)	N154I	probably damaging	Het
Adamts8	A	T	9: 30,870,604 (GRCm39)	D693V	probably damaging	Het
Ak9	A	G	10: 41,211,941 (GRCm39)	H226R	probably benign	Het
Atp6v1b1	A	G	6: 83,720,085 (GRCm39)	S7G	probably benign	Het
Atxn7l3b	C	A	10: 112,764,610 (GRCm39)	L6F	probably damaging	Het
Bco1	C	T	8: 117,840,208 (GRCm39)	T242M	probably damaging	Het
Btla	A	G	16: 45,070,845 (GRCm39)	N268S	probably benign	Het
Capn9	A	G	8: 125,327,225 (GRCm39)	S292G	probably null	Het
Cdhr18	C	T	14: 13,914,416 (GRCm38)	V9I	probably benign	Het
Col7a1	G	A	9: 108,785,740 (GRCm39)	S403N	unknown	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,486,493 (GRCm39)	K3356R	probably benign	Het
Dpf2	G	A	19: 5,957,044 (GRCm39)	R60*	probably null	Het
Eif3h	A	T	15: 51,662,695 (GRCm39)	V117E	probably damaging	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Fez1	T	A	9: 36,755,023 (GRCm39)	S7R	probably damaging	Het
Fh1	T	A	1: 175,442,407 (GRCm39)	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gfm1	T	G	3: 67,339,053 (GRCm39)	I52S	probably damaging	Het
Gm6729	A	T	10: 86,376,483 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,192,906 (GRCm39)	L149R	probably damaging	Het
H2bc27	T	A	11: 58,840,067 (GRCm39)	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,201,232 (GRCm39)	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,873,367 (GRCm39)	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,404,208 (GRCm39)	E443G	probably damaging	Het
Impg2	A	G	16: 56,088,774 (GRCm39)	D1100G	probably benign	Het
Itga2	G	A	13: 115,023,185 (GRCm39)	R56*	probably null	Het
Itga2b	A	G	11: 102,360,511 (GRCm39)	S10P	probably benign	Het
Jmjd1c	C	T	10: 66,932,460 (GRCm39)		probably benign	Het
Kdm7a	T	G	6: 39,146,030 (GRCm39)	K299T	probably damaging	Het
Large2	T	A	2: 92,195,704 (GRCm39)	D632V	probably damaging	Het
Lrp2	C	T	2: 69,297,487 (GRCm39)	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,580,746 (GRCm39)	D213E	probably benign	Het
Nkapl	T	C	13: 21,651,512 (GRCm39)	Q367R	probably benign	Het
Nwd2	T	C	5: 63,964,808 (GRCm39)	L1464P	probably damaging	Het
Or1e25	C	G	11: 73,494,243 (GRCm39)	T279R	probably damaging	Het
Or2y1	A	C	11: 49,386,134 (GRCm39)	Y258S	probably damaging	Het
Or7a40	A	T	16: 16,491,511 (GRCm39)	D111E	possibly damaging	Het
Or8u10	T	A	2: 85,916,044 (GRCm39)	I26F	probably benign	Het
Or9g20	C	T	2: 85,630,362 (GRCm39)	C84Y	probably benign	Het
P2ry2	A	G	7: 100,647,657 (GRCm39)	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,400,199 (GRCm39)	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Phactr3	T	A	2: 177,924,945 (GRCm39)	H293Q	probably damaging	Het
Pias1	T	C	9: 62,859,286 (GRCm39)	D74G	possibly damaging	Het
Plekhg6	T	C	6: 125,350,081 (GRCm39)	T286A	probably benign	Het
Pramel23	A	T	4: 143,424,903 (GRCm39)	L180Q	probably damaging	Het
Prkag2	A	C	5: 25,083,758 (GRCm39)	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,960,261 (GRCm39)	M94L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ptprn2	A	G	12: 116,864,628 (GRCm39)	I548V	probably benign	Het
Ptprr	T	C	10: 116,088,769 (GRCm39)	W307R	probably damaging	Het
Rab29	T	C	1: 131,797,700 (GRCm39)	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,493 (GRCm39)	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,869,484 (GRCm39)	A209V	probably damaging	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Septin4	A	T	11: 87,474,142 (GRCm39)		probably null	Het
Slc17a5	C	A	9: 78,466,388 (GRCm39)	V269L	possibly damaging	Het
Slc2a9	T	C	5: 38,556,049 (GRCm39)	N299S	probably damaging	Het
Slc41a2	T	A	10: 83,137,085 (GRCm39)	H274L	probably damaging	Het
Suco	A	T	1: 161,691,528 (GRCm39)	D43E	probably benign	Het
Tacr2	T	A	10: 62,088,958 (GRCm39)	I121N	probably damaging	Het
Tanc2	G	A	11: 105,804,888 (GRCm39)		probably benign	Het
Tbl1xr1	T	C	3: 22,254,522 (GRCm39)	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,839,773 (GRCm39)	L611*	probably null	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,187,185 (GRCm39)	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,482,175 (GRCm39)	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,077,663 (GRCm39)	F168L	probably benign	Het
Zfp945	C	T	17: 23,070,144 (GRCm39)		probably benign	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
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'- CTGTCATCTGCATGCAGCTC -3'
(R):5'- GCTCATGTCCTTGTTTGCATTAAG -3'

Sequencing Primer
(F):5'- ACAGACCTTGGCAAGTTGTC -3'
(R):5'- AAGCTCCTTGTATTTATAAGCACAG -3'

Posted On

2015-06-10