Incidental Mutation 'IGL01146:Ccdc186'
ID |
53301 |
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 # |
IGL01146
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56797749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 274
(E274G)
|
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: E274G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075454 Gene: ENSMUSG00000035173 AA Change: E274G
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: E274G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113457 Gene: ENSMUSG00000035173 AA Change: E274G
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
C |
6: 40,943,217 (GRCm39) |
I54T |
probably damaging |
Het |
Acss2 |
T |
C |
2: 155,403,957 (GRCm39) |
V701A |
possibly damaging |
Het |
Adam6a |
A |
T |
12: 113,507,840 (GRCm39) |
Y71F |
probably damaging |
Het |
Arhgef37 |
A |
T |
18: 61,651,081 (GRCm39) |
I148N |
possibly damaging |
Het |
Bhlhe40 |
T |
C |
6: 108,641,901 (GRCm39) |
S282P |
possibly damaging |
Het |
Bmp2 |
A |
T |
2: 133,403,220 (GRCm39) |
Q257L |
probably benign |
Het |
C2cd4d |
A |
G |
3: 94,271,770 (GRCm39) |
|
probably benign |
Het |
Calcr |
T |
A |
6: 3,700,144 (GRCm39) |
Y316F |
possibly damaging |
Het |
Cdc34b |
G |
T |
11: 94,633,420 (GRCm39) |
D207Y |
probably benign |
Het |
Chst5 |
C |
T |
8: 112,617,314 (GRCm39) |
C102Y |
probably damaging |
Het |
Cnbd2 |
T |
A |
2: 156,154,534 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
C |
T |
2: 130,612,591 (GRCm39) |
|
probably null |
Het |
Dnm1l |
T |
C |
16: 16,132,189 (GRCm39) |
D549G |
probably benign |
Het |
Gm4847 |
T |
A |
1: 166,462,521 (GRCm39) |
D323V |
probably damaging |
Het |
Gm9843 |
G |
A |
16: 76,200,255 (GRCm39) |
|
noncoding transcript |
Het |
Gopc |
A |
G |
10: 52,234,963 (GRCm39) |
V120A |
probably benign |
Het |
Kmt2c |
T |
G |
5: 25,513,510 (GRCm39) |
M3095L |
probably damaging |
Het |
Man1a |
T |
C |
10: 53,783,615 (GRCm39) |
E629G |
possibly damaging |
Het |
Pde4b |
T |
A |
4: 102,112,460 (GRCm39) |
S12T |
possibly damaging |
Het |
Phf2 |
A |
T |
13: 48,973,083 (GRCm39) |
L391Q |
unknown |
Het |
Phf8-ps |
A |
G |
17: 33,284,357 (GRCm39) |
L815S |
possibly damaging |
Het |
Plekha7 |
G |
A |
7: 115,756,708 (GRCm39) |
|
probably benign |
Het |
Pmpcb |
T |
A |
5: 21,945,476 (GRCm39) |
|
probably benign |
Het |
Poc1a |
T |
C |
9: 106,182,503 (GRCm39) |
Y285H |
probably benign |
Het |
Polr1e |
T |
C |
4: 45,031,369 (GRCm39) |
L387S |
probably damaging |
Het |
Prr9 |
A |
T |
3: 92,030,504 (GRCm39) |
C45* |
probably null |
Het |
Rnf157 |
T |
C |
11: 116,240,912 (GRCm39) |
H393R |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,808,496 (GRCm39) |
F554L |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,576,275 (GRCm39) |
S861P |
probably damaging |
Het |
Sh3tc2 |
G |
T |
18: 62,122,582 (GRCm39) |
D448Y |
probably damaging |
Het |
Smg6 |
T |
G |
11: 74,821,254 (GRCm39) |
Y508* |
probably null |
Het |
Sult6b2 |
C |
T |
6: 142,750,034 (GRCm39) |
G28D |
probably benign |
Het |
Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
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 |
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 |
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 |
2013-06-21 |