Incidental Mutation 'IGL01919:Cpne7'
| ID |
180045 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpne7
|
| Ensembl Gene |
ENSMUSG00000034796 |
| Gene Name |
copine VII |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01919
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123844113-123861921 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 123852382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 195
(E195K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037900]
[ENSMUST00000127664]
|
| AlphaFold |
Q0VE82 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037900
AA Change: E195K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796
AA Change: E195K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
C2
|
21 |
127 |
7.18e-8 |
SMART |
|
C2
|
142 |
259 |
5.92e-9 |
SMART |
|
VWA
|
304 |
510 |
7.2e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127431
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134235
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184815
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,608,580 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,604,986 (GRCm39) |
F2212S |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,475,098 (GRCm39) |
I155V |
possibly damaging |
Het |
| Aoc1 |
G |
A |
6: 48,885,223 (GRCm39) |
V653M |
probably damaging |
Het |
| Arl8b |
T |
C |
6: 108,798,518 (GRCm39) |
|
probably benign |
Het |
| Bax |
A |
C |
7: 45,115,552 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,539,168 (GRCm39) |
I2330T |
possibly damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,501,940 (GRCm39) |
S297P |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,504,155 (GRCm39) |
K311E |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,691,906 (GRCm39) |
L410P |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,886 (GRCm39) |
T536A |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,245,806 (GRCm39) |
T2173I |
possibly damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,055,556 (GRCm39) |
V783A |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,811 (GRCm39) |
V509A |
unknown |
Het |
| Lrwd1 |
A |
T |
5: 136,164,729 (GRCm39) |
L26* |
probably null |
Het |
| Mal2 |
T |
A |
15: 54,451,728 (GRCm39) |
W50R |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,871 (GRCm39) |
E819V |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,170 (GRCm39) |
F635L |
probably benign |
Het |
| Mylip |
G |
A |
13: 45,562,178 (GRCm39) |
E327K |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,453,103 (GRCm39) |
D308G |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,824 (GRCm39) |
Q101* |
probably null |
Het |
| Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,454,254 (GRCm39) |
E26G |
probably damaging |
Het |
| Rgs16 |
T |
A |
1: 153,617,804 (GRCm39) |
S105T |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,354,291 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Slc35e2 |
A |
G |
4: 155,697,187 (GRCm39) |
M234V |
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,334 (GRCm39) |
V346A |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,847,654 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
A |
C |
8: 43,643,349 (GRCm39) |
T177P |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,267,245 (GRCm39) |
T959A |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Cpne7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02111:Cpne7
|
APN |
8 |
123,852,392 (GRCm39) |
intron |
probably benign |
|
|
IGL02245:Cpne7
|
APN |
8 |
123,844,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03000:Cpne7
|
APN |
8 |
123,853,435 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0501:Cpne7
|
UTSW |
8 |
123,852,994 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0727:Cpne7
|
UTSW |
8 |
123,853,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1750:Cpne7
|
UTSW |
8 |
123,861,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Cpne7
|
UTSW |
8 |
123,854,176 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2103:Cpne7
|
UTSW |
8 |
123,854,176 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2219:Cpne7
|
UTSW |
8 |
123,851,177 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2350:Cpne7
|
UTSW |
8 |
123,851,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Cpne7
|
UTSW |
8 |
123,844,406 (GRCm39) |
splice site |
probably null |
|
|
R4657:Cpne7
|
UTSW |
8 |
123,861,314 (GRCm39) |
makesense |
probably null |
|
|
R4961:Cpne7
|
UTSW |
8 |
123,860,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6148:Cpne7
|
UTSW |
8 |
123,854,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7566:Cpne7
|
UTSW |
8 |
123,860,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7712:Cpne7
|
UTSW |
8 |
123,850,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7984:Cpne7
|
UTSW |
8 |
123,846,461 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8185:Cpne7
|
UTSW |
8 |
123,854,168 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8978:Cpne7
|
UTSW |
8 |
123,861,177 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9031:Cpne7
|
UTSW |
8 |
123,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Cpne7
|
UTSW |
8 |
123,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Cpne7
|
UTSW |
8 |
123,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9079:Cpne7
|
UTSW |
8 |
123,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9080:Cpne7
|
UTSW |
8 |
123,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9083:Cpne7
|
UTSW |
8 |
123,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Cpne7
|
UTSW |
8 |
123,856,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9443:Cpne7
|
UTSW |
8 |
123,853,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation