Incidental Mutation 'R0578:Cdipt'
ID |
56314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdipt
|
Ensembl Gene |
ENSMUSG00000030682 |
Gene Name |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
Synonyms |
9530042F15Rik, D7Bwg0575e |
MMRRC Submission |
038768-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0578 (G1)
|
Quality Score |
172 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126575630-126579671 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 126578702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032920]
[ENSMUST00000205437]
[ENSMUST00000205830]
[ENSMUST00000205830]
[ENSMUST00000205903]
[ENSMUST00000206170]
[ENSMUST00000206346]
[ENSMUST00000206346]
[ENSMUST00000206450]
[ENSMUST00000206450]
[ENSMUST00000206794]
[ENSMUST00000206816]
[ENSMUST00000206780]
[ENSMUST00000206296]
|
AlphaFold |
Q8VDP6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032920
|
SMART Domains |
Protein: ENSMUSP00000032920 Gene: ENSMUSG00000030682
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
9 |
72 |
2.4e-16 |
PFAM |
transmembrane domain
|
141 |
160 |
N/A |
INTRINSIC |
transmembrane domain
|
175 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181859
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205437
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205830
|
Predicted Effect |
probably null
Transcript: ENSMUST00000205830
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206170
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206346
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206346
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206450
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206450
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206794
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206667
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206780
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206964
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol breakdown products 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. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,943,556 (GRCm39) |
Y56C |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,167,315 (GRCm39) |
C1500* |
probably null |
Het |
Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,131,863 (GRCm39) |
D416G |
possibly damaging |
Het |
Afap1l2 |
T |
A |
19: 56,904,214 (GRCm39) |
Y691F |
probably benign |
Het |
Akna |
A |
G |
4: 63,289,147 (GRCm39) |
S1259P |
probably benign |
Het |
Atad2 |
G |
A |
15: 57,968,964 (GRCm39) |
T525I |
probably damaging |
Het |
Atp2a1 |
T |
G |
7: 126,049,315 (GRCm39) |
M576L |
probably benign |
Het |
B4galt6 |
T |
C |
18: 20,861,013 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
G |
10: 116,844,904 (GRCm39) |
D353G |
probably benign |
Het |
Btg3 |
A |
T |
16: 78,161,834 (GRCm39) |
D125E |
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,549,444 (GRCm39) |
D1320E |
probably damaging |
Het |
Cachd1 |
A |
C |
4: 100,852,039 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
C |
5: 31,216,120 (GRCm39) |
V151A |
probably benign |
Het |
Capns1 |
A |
T |
7: 29,893,453 (GRCm39) |
|
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,404,116 (GRCm39) |
T860S |
possibly damaging |
Het |
Ccdc61 |
T |
C |
7: 18,637,400 (GRCm39) |
T76A |
probably benign |
Het |
Cyp2d12 |
G |
A |
15: 82,440,584 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
C |
A |
4: 86,730,659 (GRCm39) |
P852Q |
probably damaging |
Het |
Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
Dusp16 |
G |
C |
6: 134,695,284 (GRCm39) |
L516V |
probably damaging |
Het |
Eif2ak4 |
T |
G |
2: 118,305,472 (GRCm39) |
|
probably benign |
Het |
Faf2 |
C |
T |
13: 54,769,658 (GRCm39) |
A2V |
possibly damaging |
Het |
Gas2l3 |
A |
G |
10: 89,252,937 (GRCm39) |
I236T |
probably damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Got1 |
G |
T |
19: 43,504,222 (GRCm39) |
S66R |
probably benign |
Het |
Gpr149 |
T |
A |
3: 62,510,110 (GRCm39) |
H335L |
possibly damaging |
Het |
Hadhb |
A |
G |
5: 30,383,804 (GRCm39) |
I342M |
probably benign |
Het |
Helz |
T |
A |
11: 107,577,226 (GRCm39) |
V1859D |
unknown |
Het |
Htr1a |
T |
A |
13: 105,581,595 (GRCm39) |
N278K |
probably damaging |
Het |
Inppl1 |
T |
C |
7: 101,480,795 (GRCm39) |
E355G |
probably damaging |
Het |
Isl2 |
A |
G |
9: 55,452,319 (GRCm39) |
Y297C |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,182,350 (GRCm39) |
H250R |
probably benign |
Het |
Klhl30 |
A |
T |
1: 91,282,074 (GRCm39) |
D225V |
probably benign |
Het |
Mtch2 |
T |
C |
2: 90,683,174 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
A |
16: 32,755,690 (GRCm38) |
|
probably benign |
Het |
Ncoa7 |
A |
C |
10: 30,577,913 (GRCm39) |
|
probably null |
Het |
Nuf2 |
T |
A |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
Or5ak24 |
T |
C |
2: 85,261,017 (GRCm39) |
D52G |
probably benign |
Het |
Or6c8 |
A |
G |
10: 128,915,062 (GRCm39) |
Y257H |
probably damaging |
Het |
Pced1a |
T |
A |
2: 130,261,763 (GRCm39) |
S297C |
probably damaging |
Het |
Pi15 |
A |
T |
1: 17,673,073 (GRCm39) |
K91* |
probably null |
Het |
Pla2g4e |
C |
T |
2: 120,075,162 (GRCm39) |
|
probably benign |
Het |
Plce1 |
A |
T |
19: 38,766,383 (GRCm39) |
H2136L |
probably damaging |
Het |
Plec |
A |
G |
15: 76,061,084 (GRCm39) |
L2973P |
probably damaging |
Het |
Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
Pramel32 |
T |
A |
4: 88,552,376 (GRCm39) |
I2F |
probably benign |
Het |
R3hdm1 |
C |
T |
1: 128,159,174 (GRCm39) |
Q950* |
probably null |
Het |
Rxra |
C |
T |
2: 27,649,582 (GRCm39) |
A429V |
probably damaging |
Het |
Scnn1a |
G |
A |
6: 125,299,207 (GRCm39) |
G96S |
probably damaging |
Het |
Senp5 |
T |
A |
16: 31,808,163 (GRCm39) |
T337S |
possibly damaging |
Het |
Smg9 |
A |
G |
7: 24,114,468 (GRCm39) |
D269G |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
Tmtc1 |
C |
T |
6: 148,256,716 (GRCm39) |
|
probably benign |
Het |
Vmn2r19 |
T |
C |
6: 123,312,931 (GRCm39) |
V667A |
probably damaging |
Het |
|
Other mutations in Cdipt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01845:Cdipt
|
APN |
7 |
126,578,725 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0063:Cdipt
|
UTSW |
7 |
126,578,772 (GRCm39) |
missense |
probably benign |
|
R0063:Cdipt
|
UTSW |
7 |
126,578,772 (GRCm39) |
missense |
probably benign |
|
R0446:Cdipt
|
UTSW |
7 |
126,577,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R0828:Cdipt
|
UTSW |
7 |
126,576,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Cdipt
|
UTSW |
7 |
126,576,105 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4669:Cdipt
|
UTSW |
7 |
126,577,578 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4731:Cdipt
|
UTSW |
7 |
126,577,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Cdipt
|
UTSW |
7 |
126,577,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Cdipt
|
UTSW |
7 |
126,577,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R5590:Cdipt
|
UTSW |
7 |
126,578,704 (GRCm39) |
splice site |
probably null |
|
R5870:Cdipt
|
UTSW |
7 |
126,578,094 (GRCm39) |
missense |
probably benign |
0.28 |
R6034:Cdipt
|
UTSW |
7 |
126,577,497 (GRCm39) |
missense |
probably damaging |
0.99 |
R6034:Cdipt
|
UTSW |
7 |
126,577,497 (GRCm39) |
missense |
probably damaging |
0.99 |
R6084:Cdipt
|
UTSW |
7 |
126,578,773 (GRCm39) |
missense |
probably benign |
0.10 |
R6090:Cdipt
|
UTSW |
7 |
126,576,131 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7571:Cdipt
|
UTSW |
7 |
126,578,794 (GRCm39) |
missense |
probably benign |
0.05 |
R8245:Cdipt
|
UTSW |
7 |
126,578,732 (GRCm39) |
missense |
probably benign |
|
R8929:Cdipt
|
UTSW |
7 |
126,578,825 (GRCm39) |
missense |
probably damaging |
0.99 |
R9717:Cdipt
|
UTSW |
7 |
126,576,202 (GRCm39) |
unclassified |
probably benign |
|
Z1177:Cdipt
|
UTSW |
7 |
126,576,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTTCAATTTCTCCGAGGGACCAC -3'
(R):5'- CCCAGCAGGTTAGAGAACACATGAG -3'
Sequencing Primer
(F):5'- TCCGAGGGACCACTAGGTAAG -3'
(R):5'- CGTGGTACAGTAGATACCCAG -3'
|
Posted On |
2013-07-11 |