Incidental Mutation 'R7773:Ccdc63'
ID |
598702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc63
|
Ensembl Gene |
ENSMUSG00000043036 |
Gene Name |
coiled-coil domain containing 63 |
Synonyms |
4921511C16Rik |
MMRRC Submission |
045829-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7773 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
122246115-122276143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 122247335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 503
(N503K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014080]
[ENSMUST00000058960]
[ENSMUST00000111750]
[ENSMUST00000111751]
[ENSMUST00000139213]
[ENSMUST00000146733]
[ENSMUST00000150535]
[ENSMUST00000152389]
[ENSMUST00000155612]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014080
|
SMART Domains |
Protein: ENSMUSP00000014080 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 damaging
Transcript: ENSMUST00000058960
AA Change: N503K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050582 Gene: ENSMUSG00000043036 AA Change: N503K
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: ENSMUST00000111750
|
SMART Domains |
Protein: ENSMUSP00000107379 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
EFh
|
28 |
56 |
2.81e-5 |
SMART |
EFh
|
98 |
126 |
4.53e0 |
SMART |
|
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: ENSMUST00000126006
|
SMART Domains |
Protein: ENSMUSP00000123261 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
PDB:2W4H|B
|
2 |
62 |
4e-8 |
PDB |
SCOP:d1wdcb_
|
10 |
62 |
4e-5 |
SMART |
Blast:EFh
|
37 |
62 |
3e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139213
|
SMART Domains |
Protein: ENSMUSP00000114156 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_7
|
6 |
54 |
7e-8 |
PFAM |
Pfam:EF-hand_1
|
9 |
37 |
6.4e-8 |
PFAM |
Pfam:EF-hand_6
|
9 |
40 |
6.2e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146733
|
SMART Domains |
Protein: ENSMUSP00000142592 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_7
|
6 |
54 |
1.2e-6 |
PFAM |
Pfam:EF-hand_1
|
9 |
37 |
1.1e-6 |
PFAM |
Pfam:EF-hand_6
|
9 |
40 |
1.1e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150535
|
SMART Domains |
Protein: ENSMUSP00000120274 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_7
|
6 |
54 |
6.2e-8 |
PFAM |
Pfam:EF-hand_1
|
9 |
37 |
5.8e-8 |
PFAM |
Pfam:EF-hand_6
|
9 |
40 |
5.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152389
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155612
|
SMART Domains |
Protein: ENSMUSP00000120105 Gene: ENSMUSG00000013936
Domain | Start | End | E-Value | Type |
EFh
|
9 |
37 |
2.81e-5 |
SMART |
EFh
|
79 |
107 |
4.53e0 |
SMART |
|
Meta Mutation Damage Score |
0.1864 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
G |
3: 124,206,180 (GRCm39) |
I336T |
probably benign |
Het |
4930519P11Rik |
T |
C |
2: 154,455,107 (GRCm39) |
Y84C |
unknown |
Het |
4930568D16Rik |
C |
T |
2: 35,244,606 (GRCm39) |
G249S |
probably damaging |
Het |
AAdacl4fm3 |
A |
T |
4: 144,430,047 (GRCm39) |
L314Q |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Agbl1 |
T |
A |
7: 76,348,585 (GRCm39) |
V894E |
unknown |
Het |
Amigo3 |
T |
C |
9: 107,931,867 (GRCm39) |
L430P |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,883,146 (GRCm39) |
I341V |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,990,055 (GRCm39) |
S223P |
probably benign |
Het |
Cacnb3 |
T |
C |
15: 98,537,819 (GRCm39) |
|
probably null |
Het |
Ccdc83 |
T |
A |
7: 89,879,120 (GRCm39) |
I225F |
probably damaging |
Het |
Cd200r1 |
A |
G |
16: 44,610,050 (GRCm39) |
T90A |
possibly damaging |
Het |
Cd8a |
A |
G |
6: 71,350,799 (GRCm39) |
N88S |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,567,642 (GRCm39) |
V152A |
|
Het |
Chid1 |
T |
C |
7: 141,109,518 (GRCm39) |
M123V |
probably benign |
Het |
Cnnm4 |
T |
C |
1: 36,538,603 (GRCm39) |
V595A |
probably benign |
Het |
Coro7 |
A |
G |
16: 4,449,870 (GRCm39) |
L630P |
probably damaging |
Het |
Cpvl |
A |
G |
6: 53,908,890 (GRCm39) |
|
probably null |
Het |
Edem3 |
A |
T |
1: 151,687,347 (GRCm39) |
K762* |
probably null |
Het |
Elp6 |
T |
A |
9: 110,141,627 (GRCm39) |
|
probably null |
Het |
Emilin3 |
A |
T |
2: 160,752,718 (GRCm39) |
Y77* |
probably null |
Het |
Fam234b |
T |
A |
6: 135,220,912 (GRCm39) |
I641N |
probably benign |
Het |
Farsa |
T |
C |
8: 85,590,781 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
C |
13: 31,811,182 (GRCm39) |
S374P |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,667 (GRCm39) |
I151N |
unknown |
Het |
Gm9817 |
C |
T |
13: 45,232,427 (GRCm39) |
Q77* |
probably null |
Het |
Gon4l |
A |
G |
3: 88,803,102 (GRCm39) |
K1238E |
probably benign |
Het |
H13 |
A |
G |
2: 152,537,431 (GRCm39) |
Y292C |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,139,504 (GRCm39) |
N928S |
probably benign |
Het |
Iqcf4 |
T |
C |
9: 106,445,812 (GRCm39) |
N112D |
probably benign |
Het |
Jak3 |
A |
C |
8: 72,131,686 (GRCm39) |
T125P |
probably benign |
Het |
Krt7 |
A |
C |
15: 101,311,913 (GRCm39) |
K124Q |
possibly damaging |
Het |
Ldc1 |
T |
C |
4: 130,114,169 (GRCm39) |
N83D |
probably damaging |
Het |
Lrrc66 |
G |
A |
5: 73,764,664 (GRCm39) |
S793F |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,485,840 (GRCm39) |
V1074I |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,581 (GRCm39) |
D657G |
probably benign |
Het |
Nt5el |
A |
G |
13: 105,218,793 (GRCm39) |
I42M |
probably damaging |
Het |
Or5b113 |
T |
A |
19: 13,342,598 (GRCm39) |
V202E |
probably benign |
Het |
Or8k21 |
T |
C |
2: 86,145,034 (GRCm39) |
I199V |
probably benign |
Het |
Osbpl7 |
A |
G |
11: 96,941,548 (GRCm39) |
S24G |
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,762,610 (GRCm39) |
E1385* |
probably null |
Het |
Poc5 |
A |
G |
13: 96,547,143 (GRCm39) |
T469A |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,596,222 (GRCm39) |
T296A |
probably benign |
Het |
Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
Rnf149 |
A |
C |
1: 39,604,299 (GRCm39) |
M188R |
possibly damaging |
Het |
Rpl10l |
T |
C |
12: 66,331,041 (GRCm39) |
I31V |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,797,592 (GRCm39) |
S32P |
probably damaging |
Het |
Sirt1 |
T |
A |
10: 63,162,562 (GRCm39) |
K137M |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,923,496 (GRCm39) |
Y251C |
probably damaging |
Het |
Sod3 |
A |
C |
5: 52,525,643 (GRCm39) |
E114A |
possibly damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,288,368 (GRCm39) |
V431A |
probably benign |
Het |
Tlr4 |
T |
C |
4: 66,757,836 (GRCm39) |
S210P |
probably damaging |
Het |
Trub2 |
G |
T |
2: 29,676,520 (GRCm39) |
T70N |
probably benign |
Het |
Tsga10 |
A |
T |
1: 37,874,323 (GRCm39) |
C159S |
unknown |
Het |
Vmn1r15 |
A |
T |
6: 57,235,644 (GRCm39) |
I171F |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,562 (GRCm39) |
H713L |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,378,514 (GRCm39) |
S43G |
unknown |
Het |
Zfp638 |
T |
C |
6: 83,956,196 (GRCm39) |
I1601T |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAGTGGCTATACTGTGGTG -3'
(R):5'- TGATAATGAGGGCTGCCTGG -3'
Sequencing Primer
(F):5'- TTCGTGGCCATGAGGGAAAC -3'
(R):5'- CTGGGCTGGCGGTCTTAAC -3'
|
Posted On |
2019-11-26 |