Incidental Mutation 'IGL02221:Cpped1'
| ID |
285149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpped1
|
| Ensembl Gene |
ENSMUSG00000065979 |
| Gene Name |
calcineurin-like phosphoesterase domain containing 1 |
| Synonyms |
C530044N13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL02221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
11621585-11727309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11646392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 144
(P144Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096272]
[ENSMUST00000121750]
[ENSMUST00000127972]
|
| AlphaFold |
Q8BFS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096272
AA Change: P120Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093992
Gene: ENSMUSG00000065979
AA Change: P120Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
33 |
250 |
4.6e-14 |
PFAM |
|
Pfam:Metallophos_2
|
63 |
285 |
6e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121750
AA Change: P106Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112587
Gene: ENSMUSG00000065979
AA Change: P106Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
25 |
236 |
1e-14 |
PFAM |
|
Pfam:Metallophos_2
|
45 |
271 |
6.8e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127972
AA Change: P144Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119989
Gene: ENSMUSG00000065979
AA Change: P144Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos
|
57 |
239 |
2e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145169
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,907 (GRCm39) |
I24M |
probably benign |
Het |
| Ano5 |
G |
A |
7: 51,220,071 (GRCm39) |
D390N |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,471,073 (GRCm39) |
Y407C |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,631,223 (GRCm39) |
|
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,676,858 (GRCm39) |
M269K |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,469,547 (GRCm39) |
|
probably null |
Het |
| Epas1 |
C |
T |
17: 87,135,275 (GRCm39) |
T636M |
possibly damaging |
Het |
| Hsd17b3 |
G |
T |
13: 64,236,865 (GRCm39) |
H26Q |
probably benign |
Het |
| Ighv8-9 |
A |
G |
12: 115,431,947 (GRCm39) |
|
probably benign |
Het |
| Itih1 |
A |
T |
14: 30,651,544 (GRCm39) |
C883S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,172 (GRCm39) |
M76L |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,478,399 (GRCm39) |
M53L |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,645,384 (GRCm39) |
V687A |
possibly damaging |
Het |
| Mmd2 |
C |
T |
5: 142,555,212 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,123 (GRCm39) |
L619S |
probably damaging |
Het |
| Ngef |
T |
C |
1: 87,468,418 (GRCm39) |
T114A |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,289,597 (GRCm39) |
D305G |
possibly damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,013,944 (GRCm39) |
F435L |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,220,653 (GRCm39) |
I909V |
possibly damaging |
Het |
| Osbpl3 |
A |
C |
6: 50,304,347 (GRCm39) |
|
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,321 (GRCm39) |
P328H |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,131,569 (GRCm39) |
N46I |
probably benign |
Het |
| Prss42 |
T |
C |
9: 110,632,243 (GRCm39) |
F325L |
possibly damaging |
Het |
| Reep5 |
A |
G |
18: 34,482,850 (GRCm39) |
F120L |
probably damaging |
Het |
| Scg3 |
G |
T |
9: 75,590,939 (GRCm39) |
F23L |
probably damaging |
Het |
| Scx |
A |
G |
15: 76,343,295 (GRCm39) |
D200G |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,098,131 (GRCm39) |
|
probably benign |
Het |
| Tcf4 |
T |
A |
18: 69,480,438 (GRCm39) |
S23R |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,533,793 (GRCm39) |
|
probably null |
Het |
| Tyro3 |
T |
A |
2: 119,643,071 (GRCm39) |
C627S |
probably benign |
Het |
| Yipf2 |
T |
C |
9: 21,502,764 (GRCm39) |
N106S |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,186,334 (GRCm39) |
L788P |
probably benign |
Het |
| Zfp831 |
G |
A |
2: 174,485,519 (GRCm39) |
V65I |
probably benign |
Het |
| Zgpat |
T |
C |
2: 181,020,651 (GRCm39) |
S275P |
probably benign |
Het |
|
| Other mutations in Cpped1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02448:Cpped1
|
APN |
16 |
11,623,253 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03048:Cpped1
|
UTSW |
16 |
11,646,339 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0725:Cpped1
|
UTSW |
16 |
11,646,314 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2084:Cpped1
|
UTSW |
16 |
11,646,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Cpped1
|
UTSW |
16 |
11,712,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3702:Cpped1
|
UTSW |
16 |
11,646,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4321:Cpped1
|
UTSW |
16 |
11,705,610 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4407:Cpped1
|
UTSW |
16 |
11,623,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4421:Cpped1
|
UTSW |
16 |
11,623,221 (GRCm39) |
makesense |
probably null |
|
|
R4672:Cpped1
|
UTSW |
16 |
11,623,238 (GRCm39) |
nonsense |
probably null |
|
|
R4704:Cpped1
|
UTSW |
16 |
11,703,493 (GRCm39) |
intron |
probably benign |
|
|
R4928:Cpped1
|
UTSW |
16 |
11,646,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5647:Cpped1
|
UTSW |
16 |
11,646,010 (GRCm39) |
unclassified |
probably benign |
|
|
R7260:Cpped1
|
UTSW |
16 |
11,646,327 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7610:Cpped1
|
UTSW |
16 |
11,712,742 (GRCm39) |
splice site |
probably null |
|
|
R8008:Cpped1
|
UTSW |
16 |
11,646,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Cpped1
|
UTSW |
16 |
11,623,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8356:Cpped1
|
UTSW |
16 |
11,712,793 (GRCm39) |
nonsense |
probably null |
|
|
R9100:Cpped1
|
UTSW |
16 |
11,646,419 (GRCm39) |
missense |
|
|
|
X0017:Cpped1
|
UTSW |
16 |
11,646,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation