Incidental Mutation 'R0932:Cds1'
| ID |
80962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cds1
|
| Ensembl Gene |
ENSMUSG00000029330 |
| Gene Name |
CDP-diacylglycerol synthase 1 |
| Synonyms |
4833409J18Rik, phosphatidate cytidylyltransferase |
| MMRRC Submission |
039076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R0932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
101913001-101971724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101944891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 122
(C122S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031273]
|
| AlphaFold |
P98191 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031273
AA Change: C122S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031273
Gene: ENSMUSG00000029330
AA Change: C122S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:CTP_transf_1
|
87 |
417 |
6.4e-89 |
PFAM |
|
low complexity region
|
427 |
439 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3036 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
| AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
| Anks3 |
C |
T |
16: 4,771,691 (GRCm39) |
R111H |
probably damaging |
Het |
| Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
T |
C |
2: 118,746,408 (GRCm39) |
L9P |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,587,123 (GRCm39) |
V364A |
possibly damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
| Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
| Gsdmc3 |
T |
C |
15: 63,730,400 (GRCm39) |
|
probably null |
Het |
| Ibtk |
C |
T |
9: 85,617,099 (GRCm39) |
G158R |
probably damaging |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
| Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Krt71 |
T |
C |
15: 101,645,195 (GRCm39) |
N372S |
probably benign |
Het |
| Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
| Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
| Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
| Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
| Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
| Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
| Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,838,805 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
| Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
probably damaging |
Het |
|
| Other mutations in Cds1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Cds1
|
APN |
5 |
101,957,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02052:Cds1
|
APN |
5 |
101,962,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02238:Cds1
|
APN |
5 |
101,962,302 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02449:Cds1
|
APN |
5 |
101,963,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Cds1
|
APN |
5 |
101,962,332 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02973:Cds1
|
APN |
5 |
101,960,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02987:Cds1
|
APN |
5 |
101,960,391 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0076:Cds1
|
UTSW |
5 |
101,965,706 (GRCm39) |
splice site |
probably benign |
|
|
R0200:Cds1
|
UTSW |
5 |
101,962,299 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0285:Cds1
|
UTSW |
5 |
101,944,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Cds1
|
UTSW |
5 |
101,962,299 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1444:Cds1
|
UTSW |
5 |
101,946,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Cds1
|
UTSW |
5 |
101,965,828 (GRCm39) |
splice site |
probably benign |
|
|
R1781:Cds1
|
UTSW |
5 |
101,960,416 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2126:Cds1
|
UTSW |
5 |
101,960,416 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4804:Cds1
|
UTSW |
5 |
101,969,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Cds1
|
UTSW |
5 |
101,946,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5176:Cds1
|
UTSW |
5 |
101,929,286 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5330:Cds1
|
UTSW |
5 |
101,946,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Cds1
|
UTSW |
5 |
101,946,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9257:Cds1
|
UTSW |
5 |
101,963,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGGCACCGACCTTCATTTAAAC -3'
(R):5'- AAATTCAGTGGCTCCGCCTTGCTC -3'
Sequencing Primer
(F):5'- AAACATCCGTCTGCTACTCGATTAG -3'
(R):5'- CTTTCTCCAGAATCGTCCTGTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation