Incidental Mutation 'R6034:Cdipt'
ID |
480562 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdipt
|
Ensembl Gene |
ENSMUSG00000030682 |
Gene Name |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
Synonyms |
9530042F15Rik, D7Bwg0575e |
MMRRC Submission |
044206-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6034 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126575630-126579671 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 126577497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 81
(V81G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032920]
[ENSMUST00000205437]
[ENSMUST00000205830]
[ENSMUST00000205903]
[ENSMUST00000206170]
[ENSMUST00000206346]
[ENSMUST00000206450]
[ENSMUST00000206780]
[ENSMUST00000206794]
[ENSMUST00000206296]
[ENSMUST00000206816]
|
AlphaFold |
Q8VDP6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032920
AA Change: V81G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032920 Gene: ENSMUSG00000030682 AA Change: V81G
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 damaging
Transcript: ENSMUST00000205830
AA Change: V53G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205903
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206170
AA Change: V81G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206346
AA Change: V81G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206450
AA Change: V81G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206780
AA Change: V16G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206794
AA Change: V81G
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206964
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206296
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206667
|
Meta Mutation Damage Score |
0.7484 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.4%
- 20x: 87.0%
|
Validation Efficiency |
|
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 |
Arhgef4 |
G |
T |
1: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
Atp6v1c2 |
C |
A |
12: 17,357,501 (GRCm39) |
G95V |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,133,898 (GRCm39) |
M556V |
possibly damaging |
Het |
Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
Fastkd3 |
T |
A |
13: 68,731,729 (GRCm39) |
W17R |
probably damaging |
Het |
H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
Hmgxb3 |
T |
A |
18: 61,265,594 (GRCm39) |
H1128L |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
Phf12 |
A |
G |
11: 77,908,895 (GRCm39) |
N325S |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
Sec23ip |
C |
T |
7: 128,351,927 (GRCm39) |
T101I |
possibly damaging |
Het |
Selenoo |
A |
G |
15: 88,983,546 (GRCm39) |
K529R |
probably benign |
Het |
Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
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 |
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 |
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 |
|
Posted On |
2017-06-26 |