Incidental Mutation 'IGL02899:Ccdc186'
ID |
363522 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc186
|
Ensembl Gene |
ENSMUSG00000035173 |
Gene Name |
coiled-coil domain containing 186 |
Synonyms |
1810028B20Rik, A630007B06Rik, Otg1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02899
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56781920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 753
(I753N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076085]
[ENSMUST00000118592]
|
AlphaFold |
Q8C9S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076085
AA Change: I753N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000075454 Gene: ENSMUSG00000035173 AA Change: I753N
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
104 |
8.63e-6 |
PROSPERO |
internal_repeat_1
|
119 |
216 |
8.63e-6 |
PROSPERO |
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
low complexity region
|
619 |
631 |
N/A |
INTRINSIC |
low complexity region
|
641 |
651 |
N/A |
INTRINSIC |
low complexity region
|
656 |
670 |
N/A |
INTRINSIC |
Blast:SPEC
|
671 |
799 |
1e-37 |
BLAST |
coiled coil region
|
874 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118592
AA Change: I753N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113457 Gene: ENSMUSG00000035173 AA Change: I753N
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
7 |
104 |
8.63e-6 |
PROSPERO |
internal_repeat_1
|
119 |
216 |
8.63e-6 |
PROSPERO |
low complexity region
|
252 |
264 |
N/A |
INTRINSIC |
low complexity region
|
426 |
447 |
N/A |
INTRINSIC |
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
low complexity region
|
619 |
631 |
N/A |
INTRINSIC |
low complexity region
|
641 |
651 |
N/A |
INTRINSIC |
low complexity region
|
656 |
670 |
N/A |
INTRINSIC |
Blast:SPEC
|
671 |
799 |
1e-37 |
BLAST |
coiled coil region
|
874 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000135666
AA Change: I28N
|
SMART Domains |
Protein: ENSMUSP00000122539 Gene: ENSMUSG00000035173 AA Change: I28N
Domain | Start | End | E-Value | Type |
Blast:SPEC
|
2 |
75 |
2e-15 |
BLAST |
coiled coil region
|
149 |
188 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140705
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156708
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
A |
G |
2: 166,710,971 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
A |
G |
12: 102,803,921 (GRCm39) |
L373P |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccser2 |
G |
A |
14: 36,662,716 (GRCm39) |
T156I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,927 (GRCm39) |
M682T |
probably damaging |
Het |
Cep97 |
C |
A |
16: 55,738,903 (GRCm39) |
S267I |
probably damaging |
Het |
Dhx35 |
A |
G |
2: 158,643,370 (GRCm39) |
Y39C |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,510,447 (GRCm39) |
D937E |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,043,562 (GRCm39) |
Y202H |
probably damaging |
Het |
Fyco1 |
T |
C |
9: 123,659,396 (GRCm39) |
N260S |
possibly damaging |
Het |
Gm5591 |
A |
G |
7: 38,218,842 (GRCm39) |
L677P |
probably damaging |
Het |
Gmppa |
A |
G |
1: 75,418,474 (GRCm39) |
|
probably null |
Het |
Hltf |
C |
T |
3: 20,153,981 (GRCm39) |
T639I |
probably damaging |
Het |
Inhca |
C |
A |
9: 103,154,773 (GRCm39) |
V173L |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,066,612 (GRCm39) |
Y321C |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,748,598 (GRCm39) |
G45R |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,179,547 (GRCm39) |
D1538G |
probably benign |
Het |
Maf1 |
T |
A |
15: 76,237,220 (GRCm39) |
|
probably benign |
Het |
Morn5 |
T |
C |
2: 35,945,049 (GRCm39) |
F91S |
probably damaging |
Het |
Ncan |
C |
T |
8: 70,567,698 (GRCm39) |
R138H |
possibly damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,859 (GRCm39) |
M62K |
probably damaging |
Het |
Or5ac21 |
G |
T |
16: 59,123,649 (GRCm39) |
L44F |
probably damaging |
Het |
Parg |
T |
C |
14: 31,960,531 (GRCm39) |
L82S |
probably damaging |
Het |
Ppp2r2b |
A |
T |
18: 42,778,874 (GRCm39) |
H417Q |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,334,807 (GRCm39) |
L98P |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,748,220 (GRCm39) |
V3752L |
possibly damaging |
Het |
Slc25a12 |
A |
G |
2: 71,109,979 (GRCm39) |
L489P |
probably damaging |
Het |
Slc38a8 |
C |
T |
8: 120,212,282 (GRCm39) |
V354M |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,930,459 (GRCm39) |
E512G |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,180,583 (GRCm39) |
M597T |
probably damaging |
Het |
Tgfb3 |
G |
A |
12: 86,116,550 (GRCm39) |
R163C |
probably damaging |
Het |
Tmco5b |
A |
G |
2: 113,127,265 (GRCm39) |
M279V |
probably benign |
Het |
Ttll9 |
G |
A |
2: 152,844,871 (GRCm39) |
G413D |
probably damaging |
Het |
Tut1 |
A |
G |
19: 8,939,751 (GRCm39) |
D245G |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,041,589 (GRCm39) |
V2023E |
probably damaging |
Het |
Vps33a |
C |
T |
5: 123,669,239 (GRCm39) |
G554D |
probably damaging |
Het |
Zfp27 |
C |
A |
7: 29,595,680 (GRCm39) |
R95M |
possibly damaging |
Het |
|
Other mutations in Ccdc186 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00708:Ccdc186
|
APN |
19 |
56,801,879 (GRCm39) |
missense |
probably benign |
0.18 |
IGL00976:Ccdc186
|
APN |
19 |
56,785,932 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01146:Ccdc186
|
APN |
19 |
56,797,749 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01316:Ccdc186
|
APN |
19 |
56,801,845 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01627:Ccdc186
|
APN |
19 |
56,780,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02325:Ccdc186
|
APN |
19 |
56,801,788 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02755:Ccdc186
|
APN |
19 |
56,801,828 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03408:Ccdc186
|
APN |
19 |
56,787,163 (GRCm39) |
missense |
probably benign |
0.00 |
receding
|
UTSW |
19 |
56,788,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R1256:Ccdc186
|
UTSW |
19 |
56,786,053 (GRCm39) |
missense |
probably benign |
0.20 |
R1728:Ccdc186
|
UTSW |
19 |
56,797,652 (GRCm39) |
missense |
probably benign |
0.04 |
R1729:Ccdc186
|
UTSW |
19 |
56,797,652 (GRCm39) |
missense |
probably benign |
0.04 |
R1784:Ccdc186
|
UTSW |
19 |
56,797,652 (GRCm39) |
missense |
probably benign |
0.04 |
R1813:Ccdc186
|
UTSW |
19 |
56,788,601 (GRCm39) |
missense |
probably benign |
0.03 |
R1909:Ccdc186
|
UTSW |
19 |
56,781,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R2110:Ccdc186
|
UTSW |
19 |
56,788,574 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2319:Ccdc186
|
UTSW |
19 |
56,785,999 (GRCm39) |
missense |
possibly damaging |
0.50 |
R2351:Ccdc186
|
UTSW |
19 |
56,787,129 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2970:Ccdc186
|
UTSW |
19 |
56,795,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R4159:Ccdc186
|
UTSW |
19 |
56,781,924 (GRCm39) |
nonsense |
probably null |
|
R4898:Ccdc186
|
UTSW |
19 |
56,790,432 (GRCm39) |
splice site |
probably null |
|
R4910:Ccdc186
|
UTSW |
19 |
56,787,123 (GRCm39) |
missense |
probably damaging |
0.98 |
R5325:Ccdc186
|
UTSW |
19 |
56,801,613 (GRCm39) |
missense |
probably damaging |
0.99 |
R5338:Ccdc186
|
UTSW |
19 |
56,801,689 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5662:Ccdc186
|
UTSW |
19 |
56,781,920 (GRCm39) |
missense |
probably benign |
|
R5773:Ccdc186
|
UTSW |
19 |
56,801,919 (GRCm39) |
missense |
probably benign |
0.06 |
R6621:Ccdc186
|
UTSW |
19 |
56,801,919 (GRCm39) |
missense |
probably benign |
0.06 |
R6806:Ccdc186
|
UTSW |
19 |
56,788,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6908:Ccdc186
|
UTSW |
19 |
56,780,371 (GRCm39) |
critical splice donor site |
probably null |
|
R6977:Ccdc186
|
UTSW |
19 |
56,787,219 (GRCm39) |
missense |
probably benign |
0.05 |
R7108:Ccdc186
|
UTSW |
19 |
56,787,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7190:Ccdc186
|
UTSW |
19 |
56,780,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R7407:Ccdc186
|
UTSW |
19 |
56,801,817 (GRCm39) |
missense |
probably benign |
0.00 |
R7408:Ccdc186
|
UTSW |
19 |
56,796,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7437:Ccdc186
|
UTSW |
19 |
56,795,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R8219:Ccdc186
|
UTSW |
19 |
56,781,777 (GRCm39) |
missense |
probably benign |
0.42 |
R8422:Ccdc186
|
UTSW |
19 |
56,801,617 (GRCm39) |
missense |
probably benign |
0.26 |
R8537:Ccdc186
|
UTSW |
19 |
56,798,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Ccdc186
|
UTSW |
19 |
56,801,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R8777-TAIL:Ccdc186
|
UTSW |
19 |
56,801,793 (GRCm39) |
missense |
probably damaging |
0.98 |
R9510:Ccdc186
|
UTSW |
19 |
56,802,016 (GRCm39) |
missense |
probably benign |
0.00 |
RF014:Ccdc186
|
UTSW |
19 |
56,801,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-12-18 |