Incidental Mutation 'R0063:Cdipt'
ID |
16987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdipt
|
Ensembl Gene |
ENSMUSG00000030682 |
Gene Name |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
Synonyms |
9530042F15Rik, D7Bwg0575e |
MMRRC Submission |
038355-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0063 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126575630-126579671 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 126578772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 160
(V160I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032920]
[ENSMUST00000205437]
[ENSMUST00000205830]
[ENSMUST00000205903]
[ENSMUST00000206450]
[ENSMUST00000206170]
[ENSMUST00000206346]
[ENSMUST00000206780]
[ENSMUST00000206296]
[ENSMUST00000206816]
[ENSMUST00000206794]
|
AlphaFold |
Q8VDP6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032920
AA Change: V188I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032920 Gene: ENSMUSG00000030682 AA Change: V188I
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 benign
Transcript: ENSMUST00000205830
AA Change: V160I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205903
|
Predicted Effect |
silent
Transcript: ENSMUST00000206450
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206667
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206170
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206346
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206780
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206816
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206964
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 89.1%
- 3x: 86.1%
- 10x: 78.0%
- 20x: 64.7%
|
Validation Efficiency |
99% (86/87) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
C |
T |
16: 4,678,912 (GRCm39) |
R245* |
probably null |
Het |
4930563I02Rik |
T |
A |
14: 60,333,477 (GRCm39) |
|
probably benign |
Het |
Acss1 |
T |
C |
2: 150,469,212 (GRCm39) |
T435A |
probably damaging |
Het |
Aoc2 |
T |
A |
11: 101,216,897 (GRCm39) |
S327T |
probably damaging |
Het |
Arid5a |
T |
A |
1: 36,357,645 (GRCm39) |
Y252N |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,733,465 (GRCm39) |
Y662H |
probably damaging |
Het |
Bcam |
C |
T |
7: 19,500,773 (GRCm39) |
V134I |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,424,896 (GRCm39) |
T426S |
probably benign |
Het |
Cap2 |
T |
C |
13: 46,791,508 (GRCm39) |
|
probably benign |
Het |
Capn8 |
T |
A |
1: 182,429,677 (GRCm39) |
D299E |
probably damaging |
Het |
Cyb5r3 |
T |
C |
15: 83,046,137 (GRCm39) |
T60A |
probably benign |
Het |
Dazl |
T |
C |
17: 152,705,859 (NCBIm37) |
T212A |
probably damaging |
Het |
Dgkb |
T |
G |
12: 38,654,112 (GRCm39) |
S744A |
probably benign |
Het |
Dock2 |
T |
A |
11: 34,647,111 (GRCm39) |
|
probably null |
Het |
Ece2 |
A |
G |
16: 20,461,067 (GRCm39) |
T442A |
probably benign |
Het |
Elapor2 |
T |
C |
5: 9,490,709 (GRCm39) |
|
probably benign |
Het |
Emid1 |
A |
T |
11: 5,139,704 (GRCm38) |
|
probably benign |
Het |
Eml3 |
C |
A |
19: 8,915,842 (GRCm39) |
A644D |
probably damaging |
Het |
Foxp1 |
A |
G |
6: 98,921,684 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,252,857 (GRCm39) |
N75S |
probably damaging |
Het |
Irs1 |
T |
A |
1: 82,266,580 (GRCm39) |
E545D |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,661,762 (GRCm39) |
|
probably benign |
Het |
Nat8f2 |
A |
T |
6: 85,844,815 (GRCm39) |
S182R |
possibly damaging |
Het |
Nrcam |
G |
T |
12: 44,596,811 (GRCm39) |
V343F |
possibly damaging |
Het |
Pdk2 |
T |
C |
11: 94,923,306 (GRCm39) |
H106R |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,282,174 (GRCm39) |
T2889I |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,392,633 (GRCm39) |
L1656H |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,327,247 (GRCm39) |
T394S |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,329,615 (GRCm39) |
C56S |
probably damaging |
Het |
Prdm8 |
G |
T |
5: 98,332,453 (GRCm39) |
R118L |
probably damaging |
Het |
Prkce |
T |
C |
17: 86,789,539 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
A |
10: 28,139,763 (GRCm39) |
Y163N |
probably damaging |
Het |
Rbbp8 |
T |
A |
18: 11,867,614 (GRCm39) |
|
probably benign |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Slc2a2 |
T |
C |
3: 28,771,589 (GRCm39) |
M173T |
probably damaging |
Het |
Slc2a8 |
T |
A |
2: 32,870,011 (GRCm39) |
|
probably null |
Het |
Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
Tmem89 |
A |
G |
9: 108,743,880 (GRCm39) |
N60S |
probably benign |
Het |
Trio |
G |
T |
15: 27,881,523 (GRCm39) |
|
probably benign |
Het |
Tulp2 |
T |
C |
7: 45,170,284 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,244,542 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
G |
14: 79,401,656 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,339,427 (GRCm39) |
D556G |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,851,588 (GRCm39) |
L202P |
probably damaging |
Het |
Zfp354a |
A |
T |
11: 50,960,398 (GRCm39) |
H203L |
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 |
|
R0446:Cdipt
|
UTSW |
7 |
126,577,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Cdipt
|
UTSW |
7 |
126,578,702 (GRCm39) |
splice site |
probably null |
|
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 |
|
Posted On |
2013-01-20 |