Incidental Mutation 'IGL00919:Ccdc63'
| ID |
27414 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc63
|
| Ensembl Gene |
ENSMUSG00000043036 |
| Gene Name |
coiled-coil domain containing 63 |
| Synonyms |
4921511C16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL00919
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122246115-122276143 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 122262982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058960]
[ENSMUST00000128101]
[ENSMUST00000132701]
[ENSMUST00000152389]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058960
|
| SMART Domains |
Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
140 |
158 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
318 |
N/A |
INTRINSIC |
|
coiled coil region
|
393 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128101
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152389
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef1 |
A |
G |
1: 10,243,462 (GRCm39) |
V1029A |
probably damaging |
Het |
| Arhgap9 |
T |
C |
10: 127,163,762 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Ctps1 |
A |
G |
4: 120,424,545 (GRCm39) |
V23A |
probably benign |
Het |
| Ehd4 |
T |
C |
2: 119,927,535 (GRCm39) |
E333G |
possibly damaging |
Het |
| Espl1 |
T |
C |
15: 102,207,064 (GRCm39) |
V176A |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,455,552 (GRCm39) |
I544T |
probably damaging |
Het |
| Fut9 |
A |
G |
4: 25,620,316 (GRCm39) |
V166A |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,926,549 (GRCm39) |
|
probably null |
Het |
| Nell2 |
T |
A |
15: 95,281,608 (GRCm39) |
D366V |
possibly damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,683 (GRCm39) |
I197N |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,093,481 (GRCm39) |
Y61* |
probably null |
Het |
| Or4c121 |
T |
G |
2: 89,023,848 (GRCm39) |
M177L |
probably benign |
Het |
| Pcdh1 |
T |
A |
18: 38,335,865 (GRCm39) |
K118* |
probably null |
Het |
| Phf12 |
T |
A |
11: 77,874,166 (GRCm39) |
I10N |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,041,380 (GRCm39) |
C250S |
probably damaging |
Het |
| Rtl8c |
A |
G |
X: 52,610,187 (GRCm39) |
T59A |
possibly damaging |
Het |
| Serpine1 |
A |
G |
5: 137,092,376 (GRCm39) |
I377T |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,965,008 (GRCm39) |
D865V |
probably damaging |
Het |
| Ski |
A |
T |
4: 155,306,799 (GRCm39) |
V60E |
possibly damaging |
Het |
| St7l |
T |
A |
3: 104,833,782 (GRCm39) |
L481H |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,998,662 (GRCm39) |
I375T |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,041,086 (GRCm39) |
D266G |
probably damaging |
Het |
|
| Other mutations in Ccdc63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01660:Ccdc63
|
APN |
5 |
122,249,027 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01773:Ccdc63
|
APN |
5 |
122,251,208 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02341:Ccdc63
|
APN |
5 |
122,251,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03030:Ccdc63
|
APN |
5 |
122,260,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02991:Ccdc63
|
UTSW |
5 |
122,246,275 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0267:Ccdc63
|
UTSW |
5 |
122,255,107 (GRCm39) |
splice site |
probably benign |
|
|
R0961:Ccdc63
|
UTSW |
5 |
122,249,009 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1333:Ccdc63
|
UTSW |
5 |
122,246,224 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1802:Ccdc63
|
UTSW |
5 |
122,267,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1999:Ccdc63
|
UTSW |
5 |
122,265,628 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2048:Ccdc63
|
UTSW |
5 |
122,268,350 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2150:Ccdc63
|
UTSW |
5 |
122,265,628 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2350:Ccdc63
|
UTSW |
5 |
122,260,948 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4049:Ccdc63
|
UTSW |
5 |
122,260,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5072:Ccdc63
|
UTSW |
5 |
122,259,118 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5847:Ccdc63
|
UTSW |
5 |
122,254,908 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6031:Ccdc63
|
UTSW |
5 |
122,267,799 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6031:Ccdc63
|
UTSW |
5 |
122,267,799 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6249:Ccdc63
|
UTSW |
5 |
122,263,062 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6782:Ccdc63
|
UTSW |
5 |
122,249,077 (GRCm39) |
nonsense |
probably null |
|
|
R7073:Ccdc63
|
UTSW |
5 |
122,249,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Ccdc63
|
UTSW |
5 |
122,260,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Ccdc63
|
UTSW |
5 |
122,246,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Ccdc63
|
UTSW |
5 |
122,251,267 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7773:Ccdc63
|
UTSW |
5 |
122,247,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Ccdc63
|
UTSW |
5 |
122,268,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8114:Ccdc63
|
UTSW |
5 |
122,251,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8933:Ccdc63
|
UTSW |
5 |
122,251,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Ccdc63
|
UTSW |
5 |
122,247,346 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9136:Ccdc63
|
UTSW |
5 |
122,259,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Ccdc63
|
UTSW |
5 |
122,247,238 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2013-04-17 |
Incidental Mutation