Mutagenetix > Incidental Mutation

Incidental Mutation 'R8821:Ctps1'

673033

Institutional Source

Beutler Lab

Gene Symbol

Ctps1

Ensembl Gene

ENSMUSG00000028633

Gene Name

cytidine 5'-triphosphate synthase 1

Synonyms

Ctps

MMRRC Submission

068654-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R8821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120397065-120427473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120424507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 36 (S36T)

Ref Sequence

ENSEMBL: ENSMUSP00000030381 (fasta)

Gene Model

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

AlphaFold

P70698

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030381
AA Change: S36T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: S36T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abca8a	A	T	11: 109,949,362 (GRCm39)	I927K	probably damaging	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Alyref	CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG	CCCGCG	11: 120,489,023 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Btbd18	A	G	2: 84,497,601 (GRCm39)	D413G	probably damaging	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Castor2	T	A	5: 134,164,092 (GRCm39)	V96E	possibly damaging	Het
Catsperg1	A	T	7: 28,904,361 (GRCm39)		probably benign	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Ckmt1	G	A	2: 121,191,302 (GRCm39)		probably benign	Het
Clasrp	C	T	7: 19,320,362 (GRCm39)	R432H	unknown	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Col27a1	A	G	4: 63,143,148 (GRCm39)	T279A	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cpne5	T	C	17: 29,430,668 (GRCm39)	I81V	probably benign	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Dcstamp	A	G	15: 39,618,185 (GRCm39)	H198R	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Dnah1	C	T	14: 31,018,455 (GRCm39)	A1392T	probably benign	Het
Dnah14	C	A	1: 181,619,569 (GRCm39)	Y3964*	probably null	Het
Dnah8	T	C	17: 31,013,712 (GRCm39)	S3818P	probably damaging	Het
Dnmt3b	T	A	2: 153,518,734 (GRCm39)	N632K	probably benign	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Dtd1	T	C	2: 144,459,261 (GRCm39)	L95P	probably benign	Het
Efhb	A	T	17: 53,707,772 (GRCm39)		probably benign	Het
Fam186b	T	A	15: 99,178,733 (GRCm39)	M198L	possibly damaging	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fan1	G	A	7: 64,004,249 (GRCm39)	P739L	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gm9195	C	T	14: 72,717,536 (GRCm39)	E266K	possibly damaging	Het
Hdac1-ps	T	A	17: 78,799,969 (GRCm39)	L320Q	probably damaging	Het
Helz	A	T	11: 107,525,919 (GRCm39)	M825L	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kcnrg	T	C	14: 61,844,981 (GRCm39)	V7A	possibly damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Lima1	T	A	15: 99,704,306 (GRCm39)	T288S	probably benign	Het
Lrrc37	A	T	11: 103,510,470 (GRCm39)	D499E	unknown	Het
Lrrc4c	A	T	2: 97,460,040 (GRCm39)	D222V	possibly damaging	Het
Mybpc3	T	A	2: 90,948,524 (GRCm39)	V4E	probably null	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Nell1	A	G	7: 50,476,097 (GRCm39)	S579G	probably damaging	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or2at4	A	G	7: 99,384,893 (GRCm39)	H181R	possibly damaging	Het
Or4a73	A	G	2: 89,420,880 (GRCm39)	I193T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Pih1d1	A	G	7: 44,806,196 (GRCm39)	D44G	possibly damaging	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Sp7	T	A	15: 102,267,227 (GRCm39)	H211L	possibly damaging	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem232	A	G	17: 65,743,367 (GRCm39)	L308P	probably damaging	Het
Tulp4	A	G	17: 6,189,409 (GRCm39)	N77S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zfp512b	T	C	2: 181,228,525 (GRCm39)	N738S	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
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
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'- TCGGTTGCACTAAGGATCATTC -3'
(R):5'- TCTCAATATTTACCCCGGGTGG -3'

Sequencing Primer
(F):5'- TGCACTAAGGATCATTCTAGAAGGC -3'
(R):5'- GAAGTACATTCTAGTTACTGGT -3'

Posted On

2021-04-30