Incidental Mutation 'R8537:Ccdc186'
ID |
659313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc186
|
Ensembl Gene |
ENSMUSG00000035173 |
Gene Name |
coiled-coil domain containing 186 |
Synonyms |
1810028B20Rik, A630007B06Rik, Otg1 |
MMRRC Submission |
067891-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8537 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56798677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 270
(I270M)
|
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: I270M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075454 Gene: ENSMUSG00000035173 AA Change: I270M
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: I270M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113457 Gene: ENSMUSG00000035173 AA Change: I270M
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
A |
13: 81,684,491 (GRCm39) |
D1790V |
probably damaging |
Het |
Aopep |
A |
T |
13: 63,338,364 (GRCm39) |
E579V |
probably damaging |
Het |
Avl9 |
T |
A |
6: 56,705,644 (GRCm39) |
Y175* |
probably null |
Het |
Bmp2 |
A |
T |
2: 133,403,202 (GRCm39) |
D251V |
probably damaging |
Het |
Camsap2 |
T |
A |
1: 136,204,943 (GRCm39) |
K1191N |
probably damaging |
Het |
Ccdc102a |
A |
C |
8: 95,632,684 (GRCm39) |
F431C |
probably benign |
Het |
Copb2 |
A |
G |
9: 98,469,672 (GRCm39) |
Q851R |
probably null |
Het |
Cyp11b2 |
C |
T |
15: 74,728,016 (GRCm39) |
R22K |
probably benign |
Het |
Ddx50 |
A |
G |
10: 62,478,628 (GRCm39) |
F186S |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,280,012 (GRCm39) |
Y926C |
probably damaging |
Het |
Dmrt2 |
T |
C |
19: 25,651,300 (GRCm39) |
M162T |
possibly damaging |
Het |
Dnah10 |
G |
T |
5: 124,893,164 (GRCm39) |
G3309V |
probably damaging |
Het |
Dnajb2 |
T |
C |
1: 75,216,242 (GRCm39) |
F107S |
probably damaging |
Het |
Dock8 |
T |
A |
19: 25,107,870 (GRCm39) |
S867T |
probably benign |
Het |
Eif2ak1 |
C |
A |
5: 143,835,887 (GRCm39) |
T526K |
probably damaging |
Het |
Gnas |
T |
C |
2: 174,140,394 (GRCm39) |
S188P |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,084,671 (GRCm39) |
D36G |
probably benign |
Het |
Gucy2e |
C |
A |
11: 69,127,179 (GRCm39) |
R98L |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Hnrnpu |
T |
C |
1: 178,161,199 (GRCm39) |
|
probably benign |
Het |
Icos |
A |
G |
1: 61,033,101 (GRCm39) |
D100G |
probably damaging |
Het |
Ifi203 |
A |
T |
1: 173,756,472 (GRCm39) |
|
probably benign |
Het |
Ift46 |
T |
A |
9: 44,695,280 (GRCm39) |
L92Q |
probably damaging |
Het |
Kcnip2 |
C |
T |
19: 45,804,169 (GRCm39) |
|
probably null |
Het |
Lgr5 |
T |
C |
10: 115,288,307 (GRCm39) |
Y779C |
probably damaging |
Het |
Ltk |
G |
T |
2: 119,588,588 (GRCm39) |
P287Q |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,120,652 (GRCm39) |
C852* |
probably null |
Het |
Mmp27 |
A |
G |
9: 7,579,776 (GRCm39) |
M443V |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,234,184 (GRCm39) |
D769G |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,110,142 (GRCm39) |
I1107V |
probably benign |
Het |
Nebl |
T |
A |
2: 17,355,520 (GRCm39) |
H211L |
probably benign |
Het |
Oaz3 |
T |
A |
3: 94,343,742 (GRCm39) |
K40N |
probably damaging |
Het |
Or5as1 |
T |
A |
2: 86,980,382 (GRCm39) |
T208S |
probably benign |
Het |
Or7e169 |
T |
A |
9: 19,757,848 (GRCm39) |
E22D |
probably damaging |
Het |
Osbpl10 |
G |
T |
9: 115,058,977 (GRCm39) |
A718S |
probably benign |
Het |
Ppp3ca |
T |
A |
3: 136,503,619 (GRCm39) |
I64K |
possibly damaging |
Het |
Prlr |
T |
C |
15: 10,314,266 (GRCm39) |
|
probably benign |
Het |
Rab3ip |
A |
G |
10: 116,746,059 (GRCm39) |
I424T |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Sec62 |
G |
T |
3: 30,872,961 (GRCm39) |
R348L |
unknown |
Het |
Sema5b |
C |
T |
16: 35,471,979 (GRCm39) |
A479V |
possibly damaging |
Het |
Shank3 |
T |
C |
15: 89,416,418 (GRCm39) |
I222T |
probably damaging |
Het |
Sp1 |
C |
T |
15: 102,316,964 (GRCm39) |
T154I |
possibly damaging |
Het |
Spata31e1 |
A |
G |
13: 49,940,108 (GRCm39) |
V534A |
possibly damaging |
Het |
Srek1 |
A |
G |
13: 103,888,957 (GRCm39) |
|
probably benign |
Het |
Tmem129 |
A |
G |
5: 33,812,920 (GRCm39) |
S143P |
possibly damaging |
Het |
Tmem202 |
A |
T |
9: 59,426,929 (GRCm39) |
C194S |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,884,403 (GRCm39) |
I93K |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,606,653 (GRCm39) |
Y16340H |
probably damaging |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
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 |
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 |
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'- CAGAAGCCTCGAGGTTACTAC -3'
(R):5'- TGATCAGTGGTGTCCATGTC -3'
Sequencing Primer
(F):5'- GAAGCCTCGAGGTTACTACTGTTAAC -3'
(R):5'- ATCAGTGGTGTCCATGTCTAATC -3'
|
Posted On |
2021-01-18 |