Incidental Mutation 'IGL02933:Cpne4'
| ID |
364178 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpne4
|
| Ensembl Gene |
ENSMUSG00000032564 |
| Gene Name |
copine IV |
| Synonyms |
3632411M23Rik, 4933406O10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
104443900-104911747 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104896966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 373
(V373A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057742]
[ENSMUST00000077190]
[ENSMUST00000213452]
|
| AlphaFold |
Q8BLR2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057742
AA Change: V373A
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: V373A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
24 |
130 |
4.29e-6 |
SMART |
|
C2
|
144 |
261 |
4.22e-5 |
SMART |
|
low complexity region
|
269 |
279 |
N/A |
INTRINSIC |
|
VWA
|
305 |
507 |
2.61e-12 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000077190
AA Change: V291A
|
| SMART Domains |
Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: V291A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
24 |
130 |
4.29e-6 |
SMART |
|
C2
|
144 |
275 |
1.94e1 |
SMART |
|
VWA
|
223 |
425 |
9.73e-12 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213452
AA Change: V124A
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,644,697 (GRCm39) |
F267S |
possibly damaging |
Het |
| C2cd2 |
A |
T |
16: 97,693,401 (GRCm39) |
F157I |
probably benign |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cnpy1 |
T |
A |
5: 28,412,119 (GRCm39) |
H138L |
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Git1 |
C |
A |
11: 77,391,902 (GRCm39) |
H241Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Traf1 |
C |
A |
2: 34,839,107 (GRCm39) |
D73Y |
possibly damaging |
Het |
| Trnt1 |
G |
A |
6: 106,750,387 (GRCm39) |
G97D |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,869,422 (GRCm39) |
H72R |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
Het |
|
| Other mutations in Cpne4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01650:Cpne4
|
APN |
9 |
104,778,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01871:Cpne4
|
APN |
9 |
104,802,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02097:Cpne4
|
APN |
9 |
104,563,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02698:Cpne4
|
APN |
9 |
104,909,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Cpne4
|
UTSW |
9 |
104,899,481 (GRCm39) |
splice site |
probably null |
|
|
R0528:Cpne4
|
UTSW |
9 |
104,563,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0698:Cpne4
|
UTSW |
9 |
104,802,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1025:Cpne4
|
UTSW |
9 |
104,871,057 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1054:Cpne4
|
UTSW |
9 |
104,899,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1300:Cpne4
|
UTSW |
9 |
104,870,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Cpne4
|
UTSW |
9 |
104,777,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1439:Cpne4
|
UTSW |
9 |
104,866,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1634:Cpne4
|
UTSW |
9 |
104,866,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1777:Cpne4
|
UTSW |
9 |
104,749,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2992:Cpne4
|
UTSW |
9 |
104,899,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Cpne4
|
UTSW |
9 |
104,563,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Cpne4
|
UTSW |
9 |
104,799,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4943:Cpne4
|
UTSW |
9 |
104,896,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Cpne4
|
UTSW |
9 |
104,778,720 (GRCm39) |
splice site |
probably null |
|
|
R5787:Cpne4
|
UTSW |
9 |
104,899,600 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5839:Cpne4
|
UTSW |
9 |
104,803,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Cpne4
|
UTSW |
9 |
104,802,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7386:Cpne4
|
UTSW |
9 |
104,749,939 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7849:Cpne4
|
UTSW |
9 |
104,563,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7887:Cpne4
|
UTSW |
9 |
104,909,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Cpne4
|
UTSW |
9 |
104,799,706 (GRCm39) |
intron |
probably benign |
|
|
R9267:Cpne4
|
UTSW |
9 |
104,884,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9368:Cpne4
|
UTSW |
9 |
104,563,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9407:Cpne4
|
UTSW |
9 |
104,749,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation