Incidental Mutation 'IGL03117:Ccdc187'
ID |
419479 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc187
|
Ensembl Gene |
ENSMUSG00000048038 |
Gene Name |
coiled-coil domain containing 187 |
Synonyms |
4932418E24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL03117
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
26161659-26184569 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26177980 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 270
(S270P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054283
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057224]
[ENSMUST00000217256]
[ENSMUST00000227200]
|
AlphaFold |
Q8C5V8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057224
AA Change: S270P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000054283 Gene: ENSMUSG00000048038 AA Change: S270P
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
132 |
N/A |
INTRINSIC |
low complexity region
|
536 |
557 |
N/A |
INTRINSIC |
coiled coil region
|
605 |
632 |
N/A |
INTRINSIC |
coiled coil region
|
717 |
745 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000217256
AA Change: S270P
|
Predicted Effect |
unknown
Transcript: ENSMUST00000227200
AA Change: S270P
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
Clk1 |
A |
G |
1: 58,456,166 (GRCm39) |
|
probably null |
Het |
Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
Dsel |
A |
T |
1: 111,786,908 (GRCm39) |
|
probably benign |
Het |
Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,473,886 (GRCm39) |
L231P |
probably damaging |
Het |
Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
Phf12 |
A |
T |
11: 77,913,846 (GRCm39) |
|
probably benign |
Het |
Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
Sec16b |
T |
C |
1: 157,362,970 (GRCm39) |
F267S |
probably damaging |
Het |
Slc44a5 |
T |
A |
3: 153,956,714 (GRCm39) |
M322K |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,257,323 (GRCm39) |
Y395* |
probably null |
Het |
Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
probably damaging |
Het |
|
Other mutations in Ccdc187 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01868:Ccdc187
|
APN |
2 |
26,170,960 (GRCm39) |
missense |
probably benign |
|
IGL02989:Ccdc187
|
APN |
2 |
26,166,443 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03017:Ccdc187
|
APN |
2 |
26,170,978 (GRCm39) |
missense |
probably benign |
|
IGL03059:Ccdc187
|
APN |
2 |
26,184,253 (GRCm39) |
missense |
probably null |
1.00 |
R0026:Ccdc187
|
UTSW |
2 |
26,171,365 (GRCm39) |
missense |
probably benign |
0.00 |
R0144:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
R1078:Ccdc187
|
UTSW |
2 |
26,184,389 (GRCm39) |
missense |
probably damaging |
0.98 |
R1226:Ccdc187
|
UTSW |
2 |
26,166,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R1624:Ccdc187
|
UTSW |
2 |
26,171,087 (GRCm39) |
missense |
probably benign |
|
R1733:Ccdc187
|
UTSW |
2 |
26,183,670 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1851:Ccdc187
|
UTSW |
2 |
26,166,080 (GRCm39) |
missense |
probably benign |
0.17 |
R2304:Ccdc187
|
UTSW |
2 |
26,171,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4278:Ccdc187
|
UTSW |
2 |
26,172,239 (GRCm39) |
intron |
probably benign |
|
R4344:Ccdc187
|
UTSW |
2 |
26,170,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R5151:Ccdc187
|
UTSW |
2 |
26,183,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R5416:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5537:Ccdc187
|
UTSW |
2 |
26,166,237 (GRCm39) |
missense |
probably benign |
0.32 |
R5761:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5762:Ccdc187
|
UTSW |
2 |
26,166,104 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5865:Ccdc187
|
UTSW |
2 |
26,183,380 (GRCm39) |
missense |
probably benign |
0.00 |
R5925:Ccdc187
|
UTSW |
2 |
26,183,593 (GRCm39) |
missense |
probably benign |
|
R6261:Ccdc187
|
UTSW |
2 |
26,166,215 (GRCm39) |
missense |
probably damaging |
0.98 |
R6803:Ccdc187
|
UTSW |
2 |
26,179,791 (GRCm39) |
missense |
probably benign |
0.02 |
R6888:Ccdc187
|
UTSW |
2 |
26,179,746 (GRCm39) |
missense |
probably damaging |
0.98 |
R6958:Ccdc187
|
UTSW |
2 |
26,179,731 (GRCm39) |
missense |
probably benign |
|
R7006:Ccdc187
|
UTSW |
2 |
26,171,102 (GRCm39) |
missense |
probably benign |
0.05 |
R7358:Ccdc187
|
UTSW |
2 |
26,146,007 (GRCm39) |
missense |
probably damaging |
0.97 |
R7818:Ccdc187
|
UTSW |
2 |
26,166,186 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8048:Ccdc187
|
UTSW |
2 |
26,183,526 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8327:Ccdc187
|
UTSW |
2 |
26,170,630 (GRCm39) |
missense |
probably benign |
0.01 |
R8353:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R8425:Ccdc187
|
UTSW |
2 |
26,171,548 (GRCm39) |
missense |
probably damaging |
0.99 |
R8453:Ccdc187
|
UTSW |
2 |
26,166,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R8461:Ccdc187
|
UTSW |
2 |
26,183,814 (GRCm39) |
missense |
probably damaging |
0.99 |
R8534:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8694:Ccdc187
|
UTSW |
2 |
26,165,505 (GRCm39) |
missense |
probably benign |
0.02 |
R8745:Ccdc187
|
UTSW |
2 |
26,170,526 (GRCm39) |
missense |
probably damaging |
0.99 |
R8958:Ccdc187
|
UTSW |
2 |
26,165,577 (GRCm39) |
missense |
probably benign |
0.02 |
R8972:Ccdc187
|
UTSW |
2 |
26,171,079 (GRCm39) |
missense |
probably benign |
|
R9214:Ccdc187
|
UTSW |
2 |
26,183,409 (GRCm39) |
missense |
probably benign |
0.19 |
R9454:Ccdc187
|
UTSW |
2 |
26,166,114 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9542:Ccdc187
|
UTSW |
2 |
26,145,930 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9562:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9565:Ccdc187
|
UTSW |
2 |
26,183,698 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9601:Ccdc187
|
UTSW |
2 |
26,143,445 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9702:Ccdc187
|
UTSW |
2 |
26,172,222 (GRCm39) |
missense |
unknown |
|
R9727:Ccdc187
|
UTSW |
2 |
26,171,204 (GRCm39) |
missense |
probably damaging |
0.99 |
R9790:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
R9791:Ccdc187
|
UTSW |
2 |
26,171,227 (GRCm39) |
missense |
probably benign |
|
Z1176:Ccdc187
|
UTSW |
2 |
26,171,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2016-08-02 |