Incidental Mutation 'R6977:Ccdc186'
| ID |
542542 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6977 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56775913-56810622 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56787219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 583
(M583T)
|
| 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: M583T
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000075454
Gene: ENSMUSG00000035173
AA Change: M583T
| 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: M583T
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113457
Gene: ENSMUSG00000035173
AA Change: M583T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
G |
A |
13: 59,839,394 (GRCm39) |
S17L |
possibly damaging |
Het |
| Acap2 |
G |
T |
16: 30,936,079 (GRCm39) |
T336K |
probably damaging |
Het |
| Angptl7 |
A |
T |
4: 148,581,850 (GRCm39) |
W179R |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,796,317 (GRCm39) |
F909L |
probably damaging |
Het |
| BC051665 |
A |
T |
13: 60,932,486 (GRCm39) |
Y66* |
probably null |
Het |
| C8b |
A |
G |
4: 104,644,193 (GRCm39) |
T287A |
possibly damaging |
Het |
| Camk2a |
G |
A |
18: 61,093,076 (GRCm39) |
G301E |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,347,528 (GRCm39) |
K94N |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,704,914 (GRCm39) |
S466P |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,410,742 (GRCm39) |
|
probably null |
Het |
| Cep70 |
A |
G |
9: 99,173,729 (GRCm39) |
D420G |
probably damaging |
Het |
| Cnih4 |
T |
C |
1: 180,989,713 (GRCm39) |
S48P |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,294 (GRCm39) |
K507E |
probably benign |
Het |
| Cyp2b23 |
T |
C |
7: 26,380,745 (GRCm39) |
Y160C |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,998,735 (GRCm39) |
M1104I |
probably benign |
Het |
| Fam135a |
T |
A |
1: 24,093,179 (GRCm39) |
N149I |
probably damaging |
Het |
| Fbxl4 |
A |
T |
4: 22,376,930 (GRCm39) |
Q122L |
probably benign |
Het |
| Gm11232 |
T |
C |
4: 71,676,178 (GRCm39) |
|
probably benign |
Het |
| Gm5901 |
A |
G |
7: 105,026,367 (GRCm39) |
Y45C |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,476,219 (GRCm39) |
I553F |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,436,530 (GRCm39) |
F631S |
probably damaging |
Het |
| Kics2 |
A |
G |
10: 121,581,371 (GRCm39) |
H124R |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,865,040 (GRCm39) |
D544G |
probably damaging |
Het |
| Klc2 |
G |
A |
19: 5,159,393 (GRCm39) |
R552C |
probably damaging |
Het |
| Lamp1 |
T |
C |
8: 13,223,661 (GRCm39) |
V293A |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,556,633 (GRCm39) |
D3220V |
unknown |
Het |
| Myb |
A |
T |
10: 21,028,551 (GRCm39) |
I104K |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,392,342 (GRCm39) |
R3227L |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,148,472 (GRCm39) |
L1053Q |
probably damaging |
Het |
| Nelfe |
T |
A |
17: 35,073,688 (GRCm39) |
V316E |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,268,091 (GRCm39) |
I347V |
probably null |
Het |
| Or8g50 |
A |
G |
9: 39,648,330 (GRCm39) |
Y73C |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,735,202 (GRCm39) |
V1033A |
probably benign |
Het |
| Plekhh1 |
G |
C |
12: 79,112,491 (GRCm39) |
W589C |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,272 (GRCm39) |
F658L |
probably damaging |
Het |
| Prss55 |
A |
G |
14: 64,316,785 (GRCm39) |
M119T |
probably damaging |
Het |
| Rab28 |
G |
A |
5: 41,855,735 (GRCm39) |
Q87* |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sdr16c6 |
A |
T |
4: 4,076,865 (GRCm39) |
F11L |
probably benign |
Het |
| Serpinb5 |
T |
G |
1: 106,800,077 (GRCm39) |
V89G |
probably benign |
Het |
| Slc12a9 |
A |
T |
5: 137,314,075 (GRCm39) |
V628E |
probably damaging |
Het |
| Slc25a34 |
G |
A |
4: 141,347,809 (GRCm39) |
R291C |
probably damaging |
Het |
| Slmap |
C |
T |
14: 26,254,574 (GRCm39) |
R36H |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,541,091 (GRCm39) |
S324P |
probably benign |
Het |
| Syk |
A |
T |
13: 52,787,094 (GRCm39) |
M363L |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,906,200 (GRCm39) |
V934A |
probably benign |
Het |
| Thpo |
A |
G |
16: 20,544,433 (GRCm39) |
L200P |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,568,934 (GRCm39) |
S1693R |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,377,671 (GRCm39) |
D232G |
probably damaging |
Het |
| Wasf1 |
A |
G |
10: 40,802,581 (GRCm39) |
S79G |
probably damaging |
Het |
| Zfp90 |
G |
T |
8: 107,151,948 (GRCm39) |
D554Y |
probably damaging |
Het |
| Zfp90 |
A |
T |
8: 107,151,949 (GRCm39) |
D554V |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
| Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (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 |
|
|
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'- CTCACCAGATTACGGTTAGCC -3'
(R):5'- CGAAGCCGACGATGATGATG -3'
Sequencing Primer
(F):5'- TTGCAGCTGGCTCTCAGTACAG -3'
(R):5'- TGTCATGGATGGATGAATGACTAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation