Incidental Mutation 'IGL01773:Ccdc63'
ID |
153719 |
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 # |
IGL01773
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
122246115-122276143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 122251208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 401
(K401E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058960]
[ENSMUST00000111751]
[ENSMUST00000152389]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058960
AA Change: K401E
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000050582 Gene: ENSMUSG00000043036 AA Change: K401E
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: ENSMUST00000111751
|
SMART Domains |
Protein: ENSMUSP00000107380 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
EFh
|
28 |
56 |
2.81e-5 |
SMART |
EFh
|
98 |
126 |
4.53e0 |
SMART |
EFh
|
134 |
162 |
3.97e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152389
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198618
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1s |
C |
A |
1: 136,046,491 (GRCm39) |
H1775Q |
probably benign |
Het |
Calcrl |
A |
G |
2: 84,200,787 (GRCm39) |
Y86H |
probably benign |
Het |
Col9a1 |
A |
G |
1: 24,244,147 (GRCm39) |
T127A |
probably benign |
Het |
Cpq |
T |
A |
15: 33,212,996 (GRCm39) |
F5Y |
probably benign |
Het |
Cuzd1 |
T |
A |
7: 130,916,614 (GRCm39) |
M282L |
probably damaging |
Het |
Ddx10 |
C |
A |
9: 53,115,430 (GRCm39) |
D635Y |
possibly damaging |
Het |
Ect2l |
T |
C |
10: 18,037,252 (GRCm39) |
D382G |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,290,365 (GRCm39) |
S901P |
possibly damaging |
Het |
Gpr179 |
G |
A |
11: 97,232,192 (GRCm39) |
R671C |
probably benign |
Het |
Isl2 |
T |
C |
9: 55,451,504 (GRCm39) |
L219P |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,357,733 (GRCm39) |
S296P |
possibly damaging |
Het |
Mtmr7 |
A |
T |
8: 41,034,461 (GRCm39) |
L287Q |
probably damaging |
Het |
Or11g25 |
T |
C |
14: 50,723,230 (GRCm39) |
F105S |
probably damaging |
Het |
Or52d13 |
T |
G |
7: 103,110,221 (GRCm39) |
M60L |
possibly damaging |
Het |
Or7a39 |
A |
G |
10: 78,715,770 (GRCm39) |
T255A |
possibly damaging |
Het |
Or8g28 |
A |
G |
9: 39,169,830 (GRCm39) |
I46T |
probably damaging |
Het |
Pik3c3 |
T |
A |
18: 30,410,155 (GRCm39) |
F130I |
probably damaging |
Het |
Rab3gap1 |
T |
A |
1: 127,845,958 (GRCm39) |
S277R |
possibly damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,494 (GRCm39) |
K290R |
probably benign |
Het |
Rnaseh2a |
A |
T |
8: 85,691,767 (GRCm39) |
V136D |
probably damaging |
Het |
Rnf39 |
C |
T |
17: 37,256,328 (GRCm39) |
S140L |
possibly damaging |
Het |
Sbno2 |
A |
G |
10: 79,893,665 (GRCm39) |
V1212A |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,021,101 (GRCm39) |
I50F |
probably damaging |
Het |
Slfn5 |
A |
T |
11: 82,852,157 (GRCm39) |
E761V |
probably damaging |
Het |
Sptlc1 |
A |
G |
13: 53,531,334 (GRCm39) |
Y18H |
probably damaging |
Het |
Tfam |
A |
G |
10: 71,072,805 (GRCm39) |
M9T |
possibly damaging |
Het |
Tmem186 |
A |
G |
16: 8,453,841 (GRCm39) |
L140P |
probably damaging |
Het |
Try4 |
A |
T |
6: 41,281,960 (GRCm39) |
N182I |
probably damaging |
Het |
Vmn1r209 |
C |
T |
13: 22,990,450 (GRCm39) |
C80Y |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,260,930 (GRCm39) |
S498T |
probably benign |
Het |
|
Other mutations in Ccdc63 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00919:Ccdc63
|
APN |
5 |
122,262,982 (GRCm39) |
splice site |
probably benign |
|
IGL01660:Ccdc63
|
APN |
5 |
122,249,027 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
2014-02-04 |