Incidental Mutation 'IGL00951:Cpne8'
ID |
29081 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpne8
|
Ensembl Gene |
ENSMUSG00000052560 |
Gene Name |
copine VIII |
Synonyms |
1500031E20Rik, 1200003E11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
IGL00951
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
90371684-90563591 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 90486096 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064391]
[ENSMUST00000088649]
|
AlphaFold |
Q9DC53 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064391
|
SMART Domains |
Protein: ENSMUSP00000067774 Gene: ENSMUSG00000052560
Domain | Start | End | E-Value | Type |
C2
|
37 |
145 |
9.76e-10 |
SMART |
C2
|
170 |
277 |
1.06e-10 |
SMART |
low complexity region
|
284 |
291 |
N/A |
INTRINSIC |
VWA
|
320 |
518 |
1.34e-9 |
SMART |
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088649
|
SMART Domains |
Protein: ENSMUSP00000086024 Gene: ENSMUSG00000052560
Domain | Start | End | E-Value | Type |
C2
|
37 |
139 |
8.78e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the copine family of highly conserved, calcium-dependent phospholipid binding proteins. The encoded protein has two characteristic C2 domains and a VWFA domain and may play a role in membrane trafficking. A related pseudogene is found on chromosome 8. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc8 |
C |
A |
9: 99,387,757 (GRCm39) |
R388L |
probably benign |
Het |
Bcan |
T |
C |
3: 87,901,481 (GRCm39) |
E407G |
probably damaging |
Het |
Brms1l |
A |
G |
12: 55,912,834 (GRCm39) |
I276V |
possibly damaging |
Het |
Brpf1 |
C |
A |
6: 113,299,514 (GRCm39) |
D1182E |
probably damaging |
Het |
Clpb |
A |
G |
7: 101,400,467 (GRCm39) |
M268V |
probably benign |
Het |
Ddx25 |
A |
T |
9: 35,464,131 (GRCm39) |
|
probably null |
Het |
Dgki |
A |
G |
6: 36,977,094 (GRCm39) |
M672T |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,371,620 (GRCm39) |
T112A |
possibly damaging |
Het |
Galnt7 |
A |
T |
8: 58,036,858 (GRCm39) |
M177K |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
Hp |
T |
C |
8: 110,304,129 (GRCm39) |
D24G |
possibly damaging |
Het |
Jak2 |
A |
G |
19: 29,276,983 (GRCm39) |
R847G |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,906,281 (GRCm39) |
D2391E |
probably benign |
Het |
Mpzl1 |
A |
G |
1: 165,433,391 (GRCm39) |
F87L |
probably damaging |
Het |
Ms4a4d |
A |
T |
19: 11,532,285 (GRCm39) |
I144F |
probably benign |
Het |
Or5h18 |
G |
A |
16: 58,848,216 (GRCm39) |
T18I |
probably benign |
Het |
Or5h23 |
A |
C |
16: 58,906,756 (GRCm39) |
L30R |
possibly damaging |
Het |
Or5i1 |
A |
T |
2: 87,612,883 (GRCm39) |
I2F |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
Or6d14 |
G |
A |
6: 116,534,027 (GRCm39) |
V214I |
probably benign |
Het |
Prr16 |
A |
G |
18: 51,436,411 (GRCm39) |
R297G |
probably damaging |
Het |
Ralgps1 |
A |
C |
2: 33,163,614 (GRCm39) |
L148V |
probably damaging |
Het |
Rara |
A |
G |
11: 98,858,992 (GRCm39) |
D150G |
probably benign |
Het |
Rb1 |
A |
T |
14: 73,559,512 (GRCm39) |
V64D |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,019,348 (GRCm39) |
Y742H |
probably damaging |
Het |
Rpl7a |
A |
G |
2: 26,802,441 (GRCm39) |
D160G |
possibly damaging |
Het |
Sdccag8 |
A |
G |
1: 176,705,568 (GRCm39) |
M461V |
possibly damaging |
Het |
Tagln |
T |
A |
9: 45,842,170 (GRCm39) |
N141I |
probably benign |
Het |
Tas2r140 |
A |
T |
6: 40,468,913 (GRCm39) |
R248* |
probably null |
Het |
Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,940,270 (GRCm39) |
C384R |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 187,995,662 (GRCm39) |
E144D |
probably benign |
Het |
Vkorc1l1 |
C |
T |
5: 130,011,108 (GRCm39) |
T144I |
probably benign |
Het |
Zfp235 |
T |
C |
7: 23,836,505 (GRCm39) |
F17S |
probably damaging |
Het |
|
Other mutations in Cpne8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Cpne8
|
APN |
15 |
90,381,261 (GRCm39) |
splice site |
probably benign |
|
IGL00545:Cpne8
|
APN |
15 |
90,424,462 (GRCm39) |
missense |
probably benign |
|
IGL01069:Cpne8
|
APN |
15 |
90,499,313 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01294:Cpne8
|
APN |
15 |
90,385,648 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01720:Cpne8
|
APN |
15 |
90,385,703 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01843:Cpne8
|
APN |
15 |
90,453,700 (GRCm39) |
missense |
probably benign |
0.17 |
PIT4431001:Cpne8
|
UTSW |
15 |
90,436,178 (GRCm39) |
missense |
probably damaging |
0.98 |
R0016:Cpne8
|
UTSW |
15 |
90,385,608 (GRCm39) |
splice site |
probably benign |
|
R0016:Cpne8
|
UTSW |
15 |
90,385,608 (GRCm39) |
splice site |
probably benign |
|
R0032:Cpne8
|
UTSW |
15 |
90,453,771 (GRCm39) |
splice site |
probably benign |
|
R0032:Cpne8
|
UTSW |
15 |
90,453,771 (GRCm39) |
splice site |
probably benign |
|
R0096:Cpne8
|
UTSW |
15 |
90,384,118 (GRCm39) |
missense |
probably benign |
0.24 |
R0545:Cpne8
|
UTSW |
15 |
90,381,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Cpne8
|
UTSW |
15 |
90,532,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Cpne8
|
UTSW |
15 |
90,424,462 (GRCm39) |
missense |
probably benign |
|
R0894:Cpne8
|
UTSW |
15 |
90,533,474 (GRCm39) |
missense |
probably damaging |
0.97 |
R1568:Cpne8
|
UTSW |
15 |
90,503,845 (GRCm39) |
missense |
probably damaging |
0.98 |
R1629:Cpne8
|
UTSW |
15 |
90,456,175 (GRCm39) |
missense |
probably benign |
0.03 |
R1747:Cpne8
|
UTSW |
15 |
90,469,118 (GRCm39) |
missense |
probably benign |
0.00 |
R1761:Cpne8
|
UTSW |
15 |
90,532,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R1884:Cpne8
|
UTSW |
15 |
90,532,831 (GRCm39) |
splice site |
probably benign |
|
R2357:Cpne8
|
UTSW |
15 |
90,503,877 (GRCm39) |
missense |
probably damaging |
0.99 |
R2434:Cpne8
|
UTSW |
15 |
90,393,714 (GRCm39) |
missense |
probably benign |
0.07 |
R4043:Cpne8
|
UTSW |
15 |
90,456,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Cpne8
|
UTSW |
15 |
90,532,771 (GRCm39) |
splice site |
probably benign |
|
R4969:Cpne8
|
UTSW |
15 |
90,503,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Cpne8
|
UTSW |
15 |
90,563,438 (GRCm39) |
missense |
probably benign |
0.05 |
R5086:Cpne8
|
UTSW |
15 |
90,532,771 (GRCm39) |
splice site |
probably benign |
|
R5154:Cpne8
|
UTSW |
15 |
90,384,121 (GRCm39) |
missense |
probably benign |
0.10 |
R5199:Cpne8
|
UTSW |
15 |
90,532,812 (GRCm39) |
missense |
probably benign |
0.10 |
R5424:Cpne8
|
UTSW |
15 |
90,400,260 (GRCm39) |
missense |
probably benign |
0.00 |
R5528:Cpne8
|
UTSW |
15 |
90,503,893 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5946:Cpne8
|
UTSW |
15 |
90,373,191 (GRCm39) |
makesense |
probably null |
|
R6158:Cpne8
|
UTSW |
15 |
90,456,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R6977:Cpne8
|
UTSW |
15 |
90,381,294 (GRCm39) |
missense |
probably benign |
0.10 |
R7486:Cpne8
|
UTSW |
15 |
90,400,109 (GRCm39) |
critical splice donor site |
probably null |
|
R7522:Cpne8
|
UTSW |
15 |
90,486,022 (GRCm39) |
missense |
probably benign |
0.09 |
R7684:Cpne8
|
UTSW |
15 |
90,533,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7726:Cpne8
|
UTSW |
15 |
90,385,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7799:Cpne8
|
UTSW |
15 |
90,424,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8162:Cpne8
|
UTSW |
15 |
90,503,881 (GRCm39) |
missense |
probably benign |
|
R8353:Cpne8
|
UTSW |
15 |
90,425,496 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8405:Cpne8
|
UTSW |
15 |
90,456,235 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8842:Cpne8
|
UTSW |
15 |
90,456,218 (GRCm39) |
missense |
probably benign |
|
R8856:Cpne8
|
UTSW |
15 |
90,486,044 (GRCm39) |
missense |
probably benign |
0.06 |
R8922:Cpne8
|
UTSW |
15 |
90,456,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R9058:Cpne8
|
UTSW |
15 |
90,381,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R9550:Cpne8
|
UTSW |
15 |
90,453,760 (GRCm39) |
missense |
probably benign |
0.06 |
|
Posted On |
2013-04-17 |