Incidental Mutation 'R0546:Ccdc18'
ID |
44819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc18
|
Ensembl Gene |
ENSMUSG00000056531 |
Gene Name |
coiled-coil domain containing 18 |
Synonyms |
1700021E15Rik, 4932411G06Rik |
MMRRC Submission |
038738-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0546 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108322830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 643
(E643D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
AlphaFold |
Q640L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047677
AA Change: E643D
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000036507 Gene: ENSMUSG00000056531 AA Change: E643D
Domain | Start | End | E-Value | Type |
coiled coil region
|
109 |
140 |
N/A |
INTRINSIC |
coiled coil region
|
168 |
320 |
N/A |
INTRINSIC |
coiled coil region
|
344 |
405 |
N/A |
INTRINSIC |
coiled coil region
|
507 |
1307 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195973
|
Meta Mutation Damage Score |
0.0595 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
G |
6: 23,077,076 (GRCm39) |
|
probably null |
Het |
Actn1 |
C |
T |
12: 80,225,208 (GRCm39) |
R418Q |
probably benign |
Het |
Adam39 |
G |
A |
8: 41,279,468 (GRCm39) |
V620M |
probably damaging |
Het |
Agr3 |
C |
A |
12: 35,978,329 (GRCm39) |
T14K |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,439,788 (GRCm39) |
D1002G |
probably benign |
Het |
Amz2 |
T |
A |
11: 109,324,780 (GRCm39) |
N221K |
probably benign |
Het |
Aox4 |
A |
G |
1: 58,289,333 (GRCm39) |
E752G |
probably damaging |
Het |
Ap2a1 |
C |
T |
7: 44,554,132 (GRCm39) |
G500S |
probably damaging |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Ccdc112 |
A |
G |
18: 46,424,139 (GRCm39) |
S200P |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,904,597 (GRCm39) |
T398S |
possibly damaging |
Het |
Cnp |
A |
G |
11: 100,471,549 (GRCm39) |
Y397C |
probably damaging |
Het |
Cpa4 |
T |
C |
6: 30,580,962 (GRCm39) |
W184R |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,903,671 (GRCm39) |
I1856N |
probably damaging |
Het |
Ctrl |
A |
G |
8: 106,658,966 (GRCm39) |
I200T |
probably damaging |
Het |
Cyfip1 |
C |
T |
7: 55,572,564 (GRCm39) |
R934* |
probably null |
Het |
Dennd5a |
A |
G |
7: 109,520,633 (GRCm39) |
V408A |
probably benign |
Het |
Dhfr |
G |
A |
13: 92,504,692 (GRCm39) |
|
probably null |
Het |
Dnajc6 |
A |
T |
4: 101,492,388 (GRCm39) |
N740Y |
probably damaging |
Het |
Fam110a |
T |
C |
2: 151,812,732 (GRCm39) |
T13A |
probably benign |
Het |
Fars2 |
G |
T |
13: 36,388,569 (GRCm39) |
K19N |
probably benign |
Het |
Fer1l6 |
A |
T |
15: 58,430,257 (GRCm39) |
|
probably null |
Het |
Gabra1 |
T |
A |
11: 42,053,428 (GRCm39) |
T69S |
probably damaging |
Het |
Galnt18 |
T |
G |
7: 111,107,348 (GRCm39) |
N475T |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,268,836 (GRCm39) |
Y439C |
probably damaging |
Het |
Gpatch2l |
A |
G |
12: 86,335,622 (GRCm39) |
*409W |
probably null |
Het |
Hip1r |
T |
C |
5: 124,137,114 (GRCm39) |
V658A |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,229,605 (GRCm39) |
D73G |
probably benign |
Het |
Ifitm2 |
A |
G |
7: 140,535,656 (GRCm39) |
V58A |
possibly damaging |
Het |
Ift172 |
T |
C |
5: 31,414,945 (GRCm39) |
D1359G |
probably benign |
Het |
Ing1 |
A |
G |
8: 11,607,031 (GRCm39) |
D41G |
probably damaging |
Het |
Itgal |
C |
T |
7: 126,909,486 (GRCm39) |
T446I |
probably benign |
Het |
Itgav |
G |
T |
2: 83,633,586 (GRCm39) |
M978I |
probably benign |
Het |
Jazf1 |
A |
G |
6: 52,754,681 (GRCm39) |
Y132H |
possibly damaging |
Het |
Lgr4 |
T |
A |
2: 109,829,766 (GRCm39) |
N211K |
probably damaging |
Het |
Mgat4d |
A |
G |
8: 84,082,350 (GRCm39) |
N100S |
possibly damaging |
Het |
Mrgprb3 |
T |
C |
7: 48,293,263 (GRCm39) |
Y96C |
probably damaging |
Het |
Myh11 |
A |
C |
16: 14,023,492 (GRCm39) |
L1562R |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,397,139 (GRCm39) |
Y2667C |
probably damaging |
Het |
Or14j7 |
T |
A |
17: 38,235,229 (GRCm39) |
C257* |
probably null |
Het |
Or52ae7 |
A |
G |
7: 103,119,907 (GRCm39) |
I220M |
possibly damaging |
Het |
Or6c70 |
G |
A |
10: 129,710,407 (GRCm39) |
T73I |
possibly damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,573 (GRCm39) |
T160S |
possibly damaging |
Het |
Or8k38 |
C |
T |
2: 86,488,235 (GRCm39) |
C189Y |
possibly damaging |
Het |
Or9m2 |
T |
A |
2: 87,820,816 (GRCm39) |
Y120* |
probably null |
Het |
Paox |
G |
T |
7: 139,711,591 (GRCm39) |
G148W |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,799,112 (GRCm39) |
V2777A |
probably benign |
Het |
Plod2 |
T |
A |
9: 92,477,388 (GRCm39) |
V360E |
probably damaging |
Het |
Prune2 |
T |
C |
19: 16,998,030 (GRCm39) |
|
probably benign |
Het |
Sbds |
G |
T |
5: 130,282,919 (GRCm39) |
A3D |
possibly damaging |
Het |
Sec23a |
T |
C |
12: 59,031,953 (GRCm39) |
T426A |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,551,929 (GRCm39) |
Y148C |
probably damaging |
Het |
Shprh |
T |
A |
10: 11,059,631 (GRCm39) |
|
probably benign |
Het |
Slc16a7 |
A |
G |
10: 125,066,742 (GRCm39) |
V299A |
probably benign |
Het |
Smg8 |
T |
C |
11: 86,974,439 (GRCm39) |
Y174C |
possibly damaging |
Het |
Snx22 |
T |
A |
9: 65,976,059 (GRCm39) |
Y58F |
probably damaging |
Het |
Snx25 |
A |
G |
8: 46,556,667 (GRCm39) |
Y308H |
probably benign |
Het |
St3gal2 |
A |
G |
8: 111,696,738 (GRCm39) |
|
probably null |
Het |
Stab1 |
C |
T |
14: 30,861,507 (GRCm39) |
R2500H |
possibly damaging |
Het |
Steap4 |
T |
C |
5: 8,025,870 (GRCm39) |
S144P |
probably damaging |
Het |
Stfa3 |
T |
A |
16: 36,272,619 (GRCm39) |
|
probably benign |
Het |
Tmprss9 |
C |
A |
10: 80,735,157 (GRCm39) |
Q1095K |
probably benign |
Het |
Top2a |
A |
G |
11: 98,890,052 (GRCm39) |
V1217A |
possibly damaging |
Het |
Trhr2 |
A |
G |
8: 123,085,228 (GRCm39) |
|
probably null |
Het |
Trim7 |
A |
G |
11: 48,736,336 (GRCm39) |
E23G |
probably damaging |
Het |
Trpv3 |
A |
T |
11: 73,188,013 (GRCm39) |
E788V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,575,863 (GRCm39) |
I25010T |
probably damaging |
Het |
Ube2ql1 |
T |
C |
13: 69,887,419 (GRCm39) |
H14R |
unknown |
Het |
Uggt1 |
C |
T |
1: 36,235,052 (GRCm39) |
R419H |
probably benign |
Het |
Xpo4 |
A |
G |
14: 57,850,731 (GRCm39) |
V391A |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,520,819 (GRCm39) |
D647G |
probably damaging |
Het |
Zfp354c |
A |
T |
11: 50,706,457 (GRCm39) |
M206K |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,089,264 (GRCm39) |
N1031S |
possibly damaging |
Het |
Zfp868 |
A |
G |
8: 70,064,882 (GRCm39) |
V151A |
probably benign |
Het |
|
Other mutations in Ccdc18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00836:Ccdc18
|
APN |
5 |
108,328,391 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01380:Ccdc18
|
APN |
5 |
108,328,753 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01405:Ccdc18
|
APN |
5 |
108,350,052 (GRCm39) |
splice site |
probably benign |
|
IGL01718:Ccdc18
|
APN |
5 |
108,349,214 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02098:Ccdc18
|
APN |
5 |
108,349,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Ccdc18
|
APN |
5 |
108,296,788 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02391:Ccdc18
|
APN |
5 |
108,283,918 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02794:Ccdc18
|
APN |
5 |
108,319,614 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02808:Ccdc18
|
APN |
5 |
108,283,835 (GRCm39) |
splice site |
probably benign |
|
IGL02880:Ccdc18
|
APN |
5 |
108,283,310 (GRCm39) |
missense |
probably benign |
0.31 |
IGL03069:Ccdc18
|
APN |
5 |
108,376,767 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03390:Ccdc18
|
APN |
5 |
108,359,997 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4402001:Ccdc18
|
UTSW |
5 |
108,306,485 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0004:Ccdc18
|
UTSW |
5 |
108,309,566 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0112:Ccdc18
|
UTSW |
5 |
108,321,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Ccdc18
|
UTSW |
5 |
108,321,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Ccdc18
|
UTSW |
5 |
108,328,282 (GRCm39) |
missense |
probably benign |
0.04 |
R0648:Ccdc18
|
UTSW |
5 |
108,322,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R0648:Ccdc18
|
UTSW |
5 |
108,283,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R0666:Ccdc18
|
UTSW |
5 |
108,311,530 (GRCm39) |
missense |
probably benign |
0.19 |
R1271:Ccdc18
|
UTSW |
5 |
108,349,982 (GRCm39) |
nonsense |
probably null |
|
R1509:Ccdc18
|
UTSW |
5 |
108,336,844 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1539:Ccdc18
|
UTSW |
5 |
108,339,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R1542:Ccdc18
|
UTSW |
5 |
108,360,054 (GRCm39) |
missense |
probably benign |
|
R1663:Ccdc18
|
UTSW |
5 |
108,363,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Ccdc18
|
UTSW |
5 |
108,341,668 (GRCm39) |
missense |
probably benign |
0.00 |
R1870:Ccdc18
|
UTSW |
5 |
108,368,703 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1897:Ccdc18
|
UTSW |
5 |
108,343,908 (GRCm39) |
missense |
probably benign |
0.00 |
R1946:Ccdc18
|
UTSW |
5 |
108,376,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Ccdc18
|
UTSW |
5 |
108,376,454 (GRCm39) |
missense |
probably damaging |
0.96 |
R2421:Ccdc18
|
UTSW |
5 |
108,376,454 (GRCm39) |
missense |
probably damaging |
0.96 |
R2422:Ccdc18
|
UTSW |
5 |
108,376,454 (GRCm39) |
missense |
probably damaging |
0.96 |
R4078:Ccdc18
|
UTSW |
5 |
108,306,394 (GRCm39) |
nonsense |
probably null |
|
R4079:Ccdc18
|
UTSW |
5 |
108,306,394 (GRCm39) |
nonsense |
probably null |
|
R4244:Ccdc18
|
UTSW |
5 |
108,296,838 (GRCm39) |
nonsense |
probably null |
|
R4409:Ccdc18
|
UTSW |
5 |
108,368,708 (GRCm39) |
nonsense |
probably null |
|
R4428:Ccdc18
|
UTSW |
5 |
108,283,943 (GRCm39) |
missense |
probably benign |
0.01 |
R4455:Ccdc18
|
UTSW |
5 |
108,309,395 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4499:Ccdc18
|
UTSW |
5 |
108,376,826 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4612:Ccdc18
|
UTSW |
5 |
108,283,307 (GRCm39) |
missense |
probably benign |
0.01 |
R4907:Ccdc18
|
UTSW |
5 |
108,284,007 (GRCm39) |
missense |
probably benign |
0.01 |
R4972:Ccdc18
|
UTSW |
5 |
108,339,869 (GRCm39) |
missense |
probably benign |
|
R5039:Ccdc18
|
UTSW |
5 |
108,306,514 (GRCm39) |
critical splice donor site |
probably null |
|
R5835:Ccdc18
|
UTSW |
5 |
108,288,740 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5854:Ccdc18
|
UTSW |
5 |
108,354,594 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6128:Ccdc18
|
UTSW |
5 |
108,311,625 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6229:Ccdc18
|
UTSW |
5 |
108,319,484 (GRCm39) |
missense |
probably benign |
0.00 |
R6271:Ccdc18
|
UTSW |
5 |
108,322,753 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6315:Ccdc18
|
UTSW |
5 |
108,309,448 (GRCm39) |
missense |
probably benign |
|
R6359:Ccdc18
|
UTSW |
5 |
108,283,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R6375:Ccdc18
|
UTSW |
5 |
108,322,820 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6388:Ccdc18
|
UTSW |
5 |
108,349,214 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6415:Ccdc18
|
UTSW |
5 |
108,309,612 (GRCm39) |
missense |
probably benign |
0.03 |
R6560:Ccdc18
|
UTSW |
5 |
108,339,790 (GRCm39) |
missense |
probably benign |
0.09 |
R6645:Ccdc18
|
UTSW |
5 |
108,286,796 (GRCm39) |
missense |
probably benign |
|
R6664:Ccdc18
|
UTSW |
5 |
108,315,966 (GRCm39) |
nonsense |
probably null |
|
R6836:Ccdc18
|
UTSW |
5 |
108,345,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R6947:Ccdc18
|
UTSW |
5 |
108,309,401 (GRCm39) |
missense |
probably benign |
0.26 |
R7009:Ccdc18
|
UTSW |
5 |
108,321,728 (GRCm39) |
critical splice donor site |
probably null |
|
R7052:Ccdc18
|
UTSW |
5 |
108,309,554 (GRCm39) |
missense |
probably benign |
0.15 |
R7058:Ccdc18
|
UTSW |
5 |
108,341,664 (GRCm39) |
missense |
probably benign |
|
R7087:Ccdc18
|
UTSW |
5 |
108,343,988 (GRCm39) |
missense |
probably benign |
|
R7117:Ccdc18
|
UTSW |
5 |
108,296,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7176:Ccdc18
|
UTSW |
5 |
108,315,972 (GRCm39) |
missense |
probably benign |
|
R7382:Ccdc18
|
UTSW |
5 |
108,286,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R7477:Ccdc18
|
UTSW |
5 |
108,368,716 (GRCm39) |
missense |
probably damaging |
0.98 |
R7493:Ccdc18
|
UTSW |
5 |
108,354,483 (GRCm39) |
nonsense |
probably null |
|
R7506:Ccdc18
|
UTSW |
5 |
108,311,605 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7635:Ccdc18
|
UTSW |
5 |
108,376,915 (GRCm39) |
critical splice donor site |
probably null |
|
R7690:Ccdc18
|
UTSW |
5 |
108,376,528 (GRCm39) |
missense |
probably benign |
0.00 |
R7748:Ccdc18
|
UTSW |
5 |
108,296,907 (GRCm39) |
critical splice donor site |
probably null |
|
R7812:Ccdc18
|
UTSW |
5 |
108,328,699 (GRCm39) |
missense |
probably benign |
0.00 |
R8017:Ccdc18
|
UTSW |
5 |
108,376,511 (GRCm39) |
nonsense |
probably null |
|
R8019:Ccdc18
|
UTSW |
5 |
108,376,511 (GRCm39) |
nonsense |
probably null |
|
R8172:Ccdc18
|
UTSW |
5 |
108,311,640 (GRCm39) |
critical splice donor site |
probably null |
|
R8177:Ccdc18
|
UTSW |
5 |
108,345,661 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8344:Ccdc18
|
UTSW |
5 |
108,309,369 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8351:Ccdc18
|
UTSW |
5 |
108,303,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R8415:Ccdc18
|
UTSW |
5 |
108,363,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R8451:Ccdc18
|
UTSW |
5 |
108,303,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R8547:Ccdc18
|
UTSW |
5 |
108,345,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R8725:Ccdc18
|
UTSW |
5 |
108,328,283 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9137:Ccdc18
|
UTSW |
5 |
108,296,856 (GRCm39) |
missense |
probably damaging |
0.98 |
R9391:Ccdc18
|
UTSW |
5 |
108,376,770 (GRCm39) |
missense |
probably benign |
0.02 |
R9418:Ccdc18
|
UTSW |
5 |
108,303,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R9536:Ccdc18
|
UTSW |
5 |
108,286,792 (GRCm39) |
missense |
probably benign |
0.01 |
R9565:Ccdc18
|
UTSW |
5 |
108,339,800 (GRCm39) |
missense |
probably damaging |
0.99 |
RF013:Ccdc18
|
UTSW |
5 |
108,368,582 (GRCm39) |
missense |
probably benign |
0.05 |
X0024:Ccdc18
|
UTSW |
5 |
108,339,788 (GRCm39) |
missense |
probably benign |
0.01 |
X0063:Ccdc18
|
UTSW |
5 |
108,360,063 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGTCCTAATAGCACACGAGGTC -3'
(R):5'- TGTCAATGTCCTGGGTTCCATCAAC -3'
Sequencing Primer
(F):5'- tggcaggtccaagaatcag -3'
(R):5'- cagtgagaaattcatagtgacacc -3'
|
Posted On |
2013-06-11 |