Incidental Mutation 'R7176:Ccdc18'
| ID |
558613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
045267-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108315972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 481
(C481S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047677
AA Change: C481S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: C481S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
T |
17: 46,635,203 (GRCm39) |
H267N |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,539,720 (GRCm39) |
D695G |
probably benign |
Het |
| Adam21 |
C |
T |
12: 81,607,022 (GRCm39) |
D247N |
possibly damaging |
Het |
| Adnp |
T |
C |
2: 168,024,578 (GRCm39) |
N906D |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,416,594 (GRCm39) |
H1079Q |
probably damaging |
Het |
| Aqp3 |
T |
A |
4: 41,095,202 (GRCm39) |
N60Y |
probably damaging |
Het |
| Art4 |
T |
G |
6: 136,834,166 (GRCm39) |
T26P |
probably benign |
Het |
| Arvcf |
T |
C |
16: 18,218,477 (GRCm39) |
L553P |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,243,908 (GRCm39) |
I1487N |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,334,973 (GRCm39) |
Y820F |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,401,941 (GRCm39) |
T39A |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,099,506 (GRCm39) |
S531T |
probably benign |
Het |
| Ccnf |
A |
G |
17: 24,468,376 (GRCm39) |
I7T |
possibly damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdkl4 |
A |
T |
17: 80,851,221 (GRCm39) |
Y160* |
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,722,961 (GRCm39) |
P2783S |
probably benign |
Het |
| Cisd3 |
A |
T |
11: 97,576,959 (GRCm39) |
D11V |
probably benign |
Het |
| Daxx |
A |
T |
17: 34,132,292 (GRCm39) |
H512L |
unknown |
Het |
| Dip2b |
A |
G |
15: 100,067,199 (GRCm39) |
H567R |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,469,969 (GRCm39) |
A18E |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,847,434 (GRCm39) |
V268D |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,004,162 (GRCm39) |
M625V |
unknown |
Het |
| Foxn1 |
T |
C |
11: 78,251,693 (GRCm39) |
R513G |
possibly damaging |
Het |
| Gemin5 |
C |
T |
11: 58,056,828 (GRCm39) |
V134I |
probably benign |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,433 (GRCm39) |
R161G |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,772,525 (GRCm39) |
|
probably null |
Het |
| Il1rl1 |
T |
C |
1: 40,485,766 (GRCm39) |
Y306H |
probably damaging |
Het |
| Kbtbd7 |
A |
T |
14: 79,665,194 (GRCm39) |
E342V |
possibly damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,600 (GRCm39) |
K404N |
possibly damaging |
Het |
| Lins1 |
T |
C |
7: 66,363,553 (GRCm39) |
W483R |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,723,207 (GRCm39) |
I194T |
possibly damaging |
Het |
| Mcm8 |
G |
T |
2: 132,661,992 (GRCm39) |
A137S |
probably benign |
Het |
| Mdm1 |
C |
A |
10: 117,978,770 (GRCm39) |
Q12K |
probably damaging |
Het |
| Mrgprb5 |
C |
A |
7: 47,818,059 (GRCm39) |
L225F |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,033,690 (GRCm39) |
H1068L |
|
Het |
| Ngef |
A |
T |
1: 87,408,417 (GRCm39) |
V550E |
possibly damaging |
Het |
| Nrg1 |
G |
A |
8: 32,458,064 (GRCm39) |
Q84* |
probably null |
Het |
| Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
| Ocln |
C |
A |
13: 100,651,590 (GRCm39) |
G327C |
probably damaging |
Het |
| Ocln |
A |
C |
13: 100,651,591 (GRCm39) |
N326K |
probably benign |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,378 (GRCm39) |
A248V |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,614,772 (GRCm39) |
D1960G |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,987,331 (GRCm39) |
D530G |
possibly damaging |
Het |
| Plod1 |
A |
T |
4: 147,997,744 (GRCm39) |
M655K |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,148,904 (GRCm39) |
N449D |
probably damaging |
Het |
| Ppp6r3 |
G |
T |
19: 3,521,989 (GRCm39) |
T563K |
probably damaging |
Het |
| Prepl |
T |
A |
17: 85,376,454 (GRCm39) |
L533F |
probably benign |
Het |
| Rbl1 |
G |
A |
2: 157,030,245 (GRCm39) |
R421W |
probably damaging |
Het |
| Rrp15 |
G |
A |
1: 186,453,730 (GRCm39) |
S239L |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,530,944 (GRCm39) |
S815P |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,506,632 (GRCm39) |
T1419I |
probably damaging |
Het |
| Setdb1 |
A |
G |
3: 95,244,458 (GRCm39) |
|
probably null |
Het |
| Shpk |
A |
G |
11: 73,113,814 (GRCm39) |
H409R |
probably benign |
Het |
| Slamf6 |
A |
C |
1: 171,761,858 (GRCm39) |
N93T |
probably benign |
Het |
| Slc27a4 |
A |
G |
2: 29,701,238 (GRCm39) |
N343S |
probably benign |
Het |
| Slc35g1 |
T |
A |
19: 38,391,771 (GRCm39) |
V351E |
probably damaging |
Het |
| Smcr8 |
A |
T |
11: 60,669,772 (GRCm39) |
I307F |
probably damaging |
Het |
| Spats2l |
T |
C |
1: 57,977,077 (GRCm39) |
I305T |
possibly damaging |
Het |
| Speer4c1 |
T |
C |
5: 15,916,536 (GRCm39) |
T144A |
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,919,732 (GRCm39) |
T774I |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,269,925 (GRCm39) |
H1724R |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,055 (GRCm39) |
S2830P |
probably benign |
Het |
| Vmn2r27 |
T |
A |
6: 124,168,995 (GRCm39) |
I712F |
probably benign |
Het |
| Wdr59 |
T |
G |
8: 112,219,388 (GRCm39) |
Q223P |
|
Het |
| Zfp28 |
T |
A |
7: 6,386,456 (GRCm39) |
C22S |
possibly damaging |
Het |
| Zfp536 |
T |
G |
7: 37,180,276 (GRCm39) |
|
probably null |
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 |
|
R0546:Ccdc18
|
UTSW |
5 |
108,322,830 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
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'- GAAGCCTACTTGATCGTGGTG -3'
(R):5'- ATGCAAAGTCTAAGAACTGCAC -3'
Sequencing Primer
(F):5'- CCTACTTGATCGTGGTGAATGATG -3'
(R):5'- GTCTAAGAACTGCACAATAATTCTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation