Incidental Mutation 'R3928:Ctps1'
| ID |
308362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctps1
|
| Ensembl Gene |
ENSMUSG00000028633 |
| Gene Name |
cytidine 5'-triphosphate synthase 1 |
| Synonyms |
Ctps |
| MMRRC Submission |
040823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
R3928 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120397065-120427473 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120399093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 553
(H553L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030381]
|
| AlphaFold |
P70698 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030381
AA Change: H553L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: H553L
| 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
|
| Meta Mutation Damage Score |
0.0836 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
A |
T |
11: 76,359,561 (GRCm39) |
H181Q |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,918,170 (GRCm39) |
D1856G |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,945,404 (GRCm39) |
T2811A |
probably damaging |
Het |
| Brsk2 |
T |
C |
7: 141,552,155 (GRCm39) |
F108S |
probably damaging |
Het |
| Clasp2 |
C |
A |
9: 113,735,173 (GRCm39) |
H1004N |
probably benign |
Het |
| Cntd1 |
G |
A |
11: 101,178,345 (GRCm39) |
V315I |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,703,304 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,061,880 (GRCm39) |
I242T |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,017,549 (GRCm39) |
|
probably benign |
Het |
| Fam229a |
A |
G |
4: 129,385,204 (GRCm39) |
|
probably benign |
Het |
| Fshr |
C |
T |
17: 89,292,962 (GRCm39) |
R572H |
probably damaging |
Het |
| Gm5501 |
A |
G |
18: 9,917,267 (GRCm39) |
|
noncoding transcript |
Het |
| Gmpr |
A |
G |
13: 45,683,223 (GRCm39) |
I165V |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,208,892 (GRCm39) |
|
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
| H2-Q4 |
T |
G |
17: 35,598,666 (GRCm39) |
L16R |
unknown |
Het |
| Hs2st1 |
T |
C |
3: 144,140,389 (GRCm39) |
K311E |
possibly damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,368 (GRCm39) |
E330G |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,461,441 (GRCm39) |
K29E |
probably benign |
Het |
| Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
| Lmntd2 |
C |
T |
7: 140,791,117 (GRCm39) |
G432S |
probably damaging |
Het |
| Me3 |
T |
C |
7: 89,482,898 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
G |
T |
11: 80,375,087 (GRCm39) |
R996S |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,802,566 (GRCm39) |
W2018R |
probably damaging |
Het |
| Nphp3 |
G |
T |
9: 103,888,929 (GRCm39) |
V265F |
probably damaging |
Het |
| Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5p67 |
A |
G |
7: 107,922,232 (GRCm39) |
I217T |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,130,131 (GRCm39) |
M1T |
probably null |
Het |
| Pgp |
A |
G |
17: 24,690,315 (GRCm39) |
E247G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,675,044 (GRCm39) |
A202V |
probably damaging |
Het |
| Rbm11 |
G |
A |
16: 75,389,932 (GRCm39) |
|
probably null |
Het |
| Scg5 |
T |
C |
2: 113,622,230 (GRCm39) |
K124R |
probably damaging |
Het |
| Serpina3j |
A |
T |
12: 104,285,916 (GRCm39) |
H357L |
probably damaging |
Het |
| St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
| Tdpoz3 |
T |
C |
3: 93,734,216 (GRCm39) |
I297T |
possibly damaging |
Het |
| Tdrd5 |
G |
A |
1: 156,128,348 (GRCm39) |
T136I |
probably benign |
Het |
| Tfcp2l1 |
T |
A |
1: 118,597,206 (GRCm39) |
I429K |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Top1 |
T |
C |
2: 160,529,669 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
| Vmn1r183 |
T |
C |
7: 23,754,997 (GRCm39) |
S267P |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,342,013 (GRCm39) |
F1418Y |
possibly damaging |
Het |
| Zfp114 |
T |
C |
7: 23,880,467 (GRCm39) |
V271A |
possibly damaging |
Het |
| Zfp710 |
A |
G |
7: 79,731,134 (GRCm39) |
R104G |
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 |
|
|
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'- AAGCCTGGCCAGCAAGATAG -3'
(R):5'- TGTAGCAGTGTCAGCTGACTCC -3'
Sequencing Primer
(F):5'- GATAGGGGCAGCCTAACAAC -3'
(R):5'- TAGCAGTGTCAGCTGACTCCTTTTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation