Incidental Mutation 'R6806:Ccdc186'
ID |
537501 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc186
|
Ensembl Gene |
ENSMUSG00000035173 |
Gene Name |
coiled-coil domain containing 186 |
Synonyms |
1810028B20Rik, A630007B06Rik, Otg1 |
MMRRC Submission |
044919-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6806 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56788561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 549
(K549N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076085]
[ENSMUST00000118592]
|
AlphaFold |
Q8C9S4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076085
AA Change: K549N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075454 Gene: ENSMUSG00000035173 AA Change: K549N
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 damaging
Transcript: ENSMUST00000118592
AA Change: K549N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113457 Gene: ENSMUSG00000035173 AA Change: K549N
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: ENSMUST00000135666
|
SMART Domains |
Protein: ENSMUSP00000122539 Gene: ENSMUSG00000035173
Domain | Start | End | E-Value | Type |
Blast:SPEC
|
2 |
75 |
2e-15 |
BLAST |
coiled coil region
|
149 |
188 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0902 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
95% (39/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
Apba2 |
T |
A |
7: 64,345,207 (GRCm39) |
D132E |
probably damaging |
Het |
Atp13a4 |
A |
G |
16: 29,288,098 (GRCm39) |
S258P |
probably damaging |
Het |
Bach2 |
T |
A |
4: 32,575,301 (GRCm39) |
M509K |
possibly damaging |
Het |
Chrna3 |
C |
T |
9: 54,923,094 (GRCm39) |
R238H |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 99,868,374 (GRCm39) |
C30Y |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,216,342 (GRCm39) |
Q520R |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,951,411 (GRCm39) |
|
probably null |
Het |
Ebna1bp2 |
T |
C |
4: 118,478,174 (GRCm39) |
C16R |
probably benign |
Het |
Grin2b |
A |
G |
6: 135,751,826 (GRCm39) |
Y579H |
possibly damaging |
Het |
Ifi206 |
C |
T |
1: 173,309,137 (GRCm39) |
M286I |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,492,908 (GRCm39) |
V2478I |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,511,950 (GRCm39) |
E6G |
unknown |
Het |
Ltbp2 |
T |
C |
12: 84,856,012 (GRCm39) |
S744G |
possibly damaging |
Het |
Magi3 |
T |
A |
3: 103,954,285 (GRCm39) |
N684I |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,449,206 (GRCm39) |
|
probably null |
Het |
Nphp4 |
G |
T |
4: 152,622,558 (GRCm39) |
Q614H |
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,217,509 (GRCm39) |
I11T |
probably damaging |
Het |
Or51q1 |
G |
T |
7: 103,628,771 (GRCm39) |
R124L |
possibly damaging |
Het |
Pank2 |
T |
C |
2: 131,104,627 (GRCm39) |
|
probably benign |
Het |
Prss58 |
A |
T |
6: 40,874,666 (GRCm39) |
N58K |
probably damaging |
Het |
Ptk7 |
C |
T |
17: 46,884,454 (GRCm39) |
V759M |
probably damaging |
Het |
Rassf7 |
A |
G |
7: 140,796,722 (GRCm39) |
T28A |
probably damaging |
Het |
Rbm45 |
C |
T |
2: 76,210,804 (GRCm39) |
T445I |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsrc2 |
T |
G |
5: 123,877,594 (GRCm39) |
|
probably benign |
Het |
Saxo2 |
A |
T |
7: 82,284,240 (GRCm39) |
I206N |
probably benign |
Het |
Sh3d19 |
T |
A |
3: 86,011,640 (GRCm39) |
Y409N |
probably damaging |
Het |
Spata31d1a |
A |
T |
13: 59,851,032 (GRCm39) |
N365K |
probably benign |
Het |
Stkld1 |
C |
G |
2: 26,833,922 (GRCm39) |
N136K |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,461,166 (GRCm39) |
D904G |
possibly damaging |
Het |
Tmf1 |
G |
A |
6: 97,138,408 (GRCm39) |
R837* |
probably null |
Het |
Tnn |
T |
C |
1: 159,948,278 (GRCm39) |
T812A |
possibly damaging |
Het |
Trgj4 |
T |
C |
13: 19,526,365 (GRCm39) |
L15P |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,059,147 (GRCm39) |
I905V |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,786,308 (GRCm39) |
|
probably benign |
Het |
Zfp446 |
T |
C |
7: 12,713,043 (GRCm39) |
L27P |
probably damaging |
Het |
Zfp719 |
A |
G |
7: 43,235,809 (GRCm39) |
D57G |
possibly damaging |
Het |
Zfp747l1 |
T |
C |
7: 126,985,766 (GRCm39) |
|
probably benign |
Het |
Zfp978 |
G |
A |
4: 147,475,284 (GRCm39) |
R277K |
probably benign |
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 |
IGL02899:Ccdc186
|
APN |
19 |
56,781,920 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCGTGACAGGAGTTCAAAGAC -3'
(R):5'- TGAGATAAGGACAGCAGCTTCC -3'
Sequencing Primer
(F):5'- CACAAACTGAAGAATTGTTAACTGG -3'
(R):5'- CTCCTGCAGCACTTGTCTCAG -3'
|
Posted On |
2018-10-18 |