Incidental Mutation 'R4389:Ctps1'
| ID |
326329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctps1
|
| Ensembl Gene |
ENSMUSG00000028633 |
| Gene Name |
cytidine 5'-triphosphate synthase 1 |
| Synonyms |
Ctps |
| MMRRC Submission |
041126-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R4389 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120397065-120427473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120415987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 212
(D212G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030381]
|
| AlphaFold |
P70698 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030381
AA Change: D212G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: D212G
| 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 |
0.9728 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.6%
|
| Validation Efficiency |
87% (26/30) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,247,878 (GRCm39) |
T2542P |
probably damaging |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,803,362 (GRCm39) |
K1560M |
probably benign |
Het |
| Ercc6 |
T |
A |
14: 32,296,865 (GRCm39) |
L1285* |
probably null |
Het |
| Gzma |
G |
T |
13: 113,234,922 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,843,618 (GRCm39) |
I120M |
possibly damaging |
Het |
| Lhx3 |
C |
T |
2: 26,091,102 (GRCm39) |
|
probably benign |
Het |
| Mtfr1l |
T |
C |
4: 134,259,953 (GRCm39) |
|
probably benign |
Het |
| Ndufb4 |
T |
C |
16: 37,468,032 (GRCm39) |
N126S |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nptn |
A |
G |
9: 58,551,055 (GRCm39) |
K361E |
probably damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Orc2 |
T |
C |
1: 58,514,020 (GRCm39) |
D332G |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,842 (GRCm39) |
V675A |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Slc13a1 |
A |
T |
6: 24,092,397 (GRCm39) |
|
probably null |
Het |
| Tec |
A |
G |
5: 72,939,350 (GRCm39) |
Y222H |
probably benign |
Het |
| Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,715 (GRCm39) |
L106* |
probably null |
Het |
| Zfp189 |
A |
G |
4: 49,529,934 (GRCm39) |
R346G |
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 |
|
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'- AGAGCTAACTGACAGGTTTTCC -3'
(R):5'- TCTAGGCTGAAGTGTACAACTG -3'
Sequencing Primer
(F):5'- CCTCCTTAATGTTCTTGGGAGG -3'
(R):5'- GGCTGAAGTGTACAACTGAATTATTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation