Incidental Mutation 'IGL02755:Ccdc186'
ID |
306401 |
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 # |
IGL02755
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56801828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 96
(N96K)
|
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: N96K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000075454 Gene: ENSMUSG00000035173 AA Change: N96K
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: N96K
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113457 Gene: ENSMUSG00000035173 AA Change: N96K
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 |
noncoding transcript
Transcript: ENSMUST00000140184
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930512M02Rik |
T |
A |
11: 11,539,358 (GRCm39) |
N189I |
unknown |
Het |
Adamts19 |
T |
A |
18: 59,103,005 (GRCm39) |
I682K |
probably benign |
Het |
Adra1a |
G |
A |
14: 66,965,110 (GRCm39) |
V367I |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,743,507 (GRCm39) |
E1108G |
possibly damaging |
Het |
Ccnb1 |
A |
G |
13: 100,918,168 (GRCm39) |
Y160H |
possibly damaging |
Het |
Cebpz |
A |
T |
17: 79,238,759 (GRCm39) |
V683E |
probably damaging |
Het |
Cep104 |
A |
G |
4: 154,081,416 (GRCm39) |
H786R |
possibly damaging |
Het |
Chd9 |
T |
C |
8: 91,760,210 (GRCm39) |
I1985T |
probably benign |
Het |
Cntn2 |
T |
A |
1: 132,457,040 (GRCm39) |
T36S |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,671,189 (GRCm39) |
S1126P |
probably benign |
Het |
Cpt2 |
A |
T |
4: 107,764,972 (GRCm39) |
V264E |
probably damaging |
Het |
Degs2 |
T |
C |
12: 108,658,842 (GRCm39) |
T46A |
probably benign |
Het |
Dip2c |
T |
C |
13: 9,600,356 (GRCm39) |
|
probably null |
Het |
Dnaaf1 |
A |
G |
8: 120,317,410 (GRCm39) |
D313G |
probably damaging |
Het |
Ephb3 |
T |
G |
16: 21,040,448 (GRCm39) |
D561E |
probably damaging |
Het |
Eps15 |
A |
G |
4: 109,186,895 (GRCm39) |
T321A |
probably benign |
Het |
Ercc6 |
A |
G |
14: 32,297,705 (GRCm39) |
|
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,742,065 (GRCm39) |
|
probably null |
Het |
Gm28177 |
G |
A |
1: 52,136,031 (GRCm39) |
|
probably benign |
Het |
Gucy2g |
C |
A |
19: 55,198,786 (GRCm39) |
V786F |
probably benign |
Het |
H2-M3 |
T |
C |
17: 37,581,913 (GRCm39) |
V123A |
possibly damaging |
Het |
Hmgxb3 |
T |
C |
18: 61,305,260 (GRCm39) |
K33E |
probably damaging |
Het |
Ift22 |
T |
C |
5: 136,940,640 (GRCm39) |
W102R |
probably damaging |
Het |
Lgi4 |
T |
C |
7: 30,762,530 (GRCm39) |
F44L |
probably damaging |
Het |
Lingo3 |
T |
C |
10: 80,671,843 (GRCm39) |
E29G |
possibly damaging |
Het |
Nf2 |
A |
G |
11: 4,768,542 (GRCm39) |
L109P |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 78,110,187 (GRCm39) |
H349R |
probably benign |
Het |
Or6c8 |
T |
A |
10: 128,915,065 (GRCm39) |
M256L |
probably benign |
Het |
Otub1 |
T |
A |
19: 7,183,624 (GRCm39) |
M1L |
probably benign |
Het |
Pkp3 |
A |
G |
7: 140,668,318 (GRCm39) |
|
probably null |
Het |
Popdc3 |
C |
A |
10: 45,191,314 (GRCm39) |
H142N |
probably damaging |
Het |
Pot1a |
A |
G |
6: 25,771,612 (GRCm39) |
F203S |
possibly damaging |
Het |
Prdx5 |
A |
G |
19: 6,886,963 (GRCm39) |
V8A |
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,427,326 (GRCm39) |
Y636H |
probably damaging |
Het |
Rad51d |
A |
T |
11: 82,772,458 (GRCm39) |
I236N |
probably benign |
Het |
Reep3 |
G |
T |
10: 66,857,656 (GRCm39) |
T145K |
possibly damaging |
Het |
Samd3 |
G |
T |
10: 26,120,475 (GRCm39) |
L156F |
probably damaging |
Het |
Sh3bp5l |
A |
G |
11: 58,228,829 (GRCm39) |
T101A |
probably benign |
Het |
Slc3a1 |
T |
C |
17: 85,344,605 (GRCm39) |
V257A |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,092,247 (GRCm39) |
V506A |
probably damaging |
Het |
Stab1 |
A |
T |
14: 30,861,595 (GRCm39) |
S2471T |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,381 (GRCm39) |
T319A |
probably damaging |
Het |
Vmn2r94 |
C |
T |
17: 18,464,761 (GRCm39) |
V510I |
probably benign |
Het |
Wscd2 |
T |
A |
5: 113,712,092 (GRCm39) |
M337K |
possibly damaging |
Het |
Zfp866 |
A |
G |
8: 70,219,290 (GRCm39) |
|
probably null |
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 |
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 |
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 |
2015-04-16 |