Incidental Mutation 'R1897:Ccdc18'
| ID |
212038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
039917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1897 (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 108343908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 884
(M884L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047677
AA Change: M884L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: M884L
| 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 |
|
| Meta Mutation Damage Score |
0.0580 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.8%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,434,564 (GRCm39) |
S61G |
probably damaging |
Het |
| Acot12 |
A |
G |
13: 91,932,516 (GRCm39) |
N504S |
probably benign |
Het |
| Adcy3 |
C |
T |
12: 4,223,450 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
A |
T |
6: 55,456,179 (GRCm39) |
H168L |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,206,065 (GRCm39) |
E213G |
probably benign |
Het |
| Aldh1l2 |
G |
T |
10: 83,338,389 (GRCm39) |
T510K |
probably damaging |
Het |
| Apol7e |
A |
T |
15: 77,602,094 (GRCm39) |
M231L |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,474,647 (GRCm39) |
|
probably null |
Het |
| Atf7ip2 |
C |
T |
16: 10,028,948 (GRCm39) |
P160L |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,895,772 (GRCm39) |
L554P |
probably damaging |
Het |
| Ccdc93 |
A |
G |
1: 121,418,941 (GRCm39) |
I499V |
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,095,616 (GRCm39) |
D60G |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,095,192 (GRCm39) |
T626A |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,818,015 (GRCm39) |
E789G |
probably damaging |
Het |
| Cmpk2 |
T |
C |
12: 26,524,046 (GRCm39) |
L281P |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,746,047 (GRCm39) |
R1691C |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,655,595 (GRCm39) |
V90M |
probably damaging |
Het |
| Cul2 |
T |
G |
18: 3,414,164 (GRCm39) |
M86R |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,584 (GRCm39) |
F79S |
probably damaging |
Het |
| Dkk1 |
G |
T |
19: 30,526,678 (GRCm39) |
N34K |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,158,745 (GRCm39) |
L619F |
probably benign |
Het |
| Eif2b5 |
T |
C |
16: 20,325,787 (GRCm39) |
V588A |
probably damaging |
Het |
| Elf3 |
A |
T |
1: 135,184,875 (GRCm39) |
Y104N |
probably damaging |
Het |
| Fahd2a |
T |
C |
2: 127,278,530 (GRCm39) |
D272G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,387,271 (GRCm39) |
C188* |
probably null |
Het |
| Fbxw8 |
T |
C |
5: 118,266,941 (GRCm39) |
Y174C |
probably benign |
Het |
| Gnl1 |
C |
A |
17: 36,299,584 (GRCm39) |
P585Q |
possibly damaging |
Het |
| Greb1l |
T |
C |
18: 10,498,992 (GRCm39) |
S292P |
probably benign |
Het |
| Gsk3b |
G |
A |
16: 38,037,446 (GRCm39) |
|
probably null |
Het |
| Hcls1 |
C |
T |
16: 36,783,005 (GRCm39) |
P452L |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,350,007 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,552,525 (GRCm39) |
S25P |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,928,928 (GRCm39) |
V100A |
probably benign |
Het |
| Isl1 |
C |
T |
13: 116,439,866 (GRCm39) |
E161K |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,162,555 (GRCm39) |
N160K |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
| Mpc1 |
G |
A |
17: 8,515,710 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,199,523 (GRCm39) |
N1377I |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,195,596 (GRCm39) |
I607V |
probably benign |
Het |
| Or2g1 |
T |
G |
17: 38,107,075 (GRCm39) |
S247A |
probably benign |
Het |
| Or8g53 |
A |
T |
9: 39,683,361 (GRCm39) |
I245K |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 132,994,654 (GRCm39) |
D206G |
possibly damaging |
Het |
| Pipox |
A |
G |
11: 77,773,568 (GRCm39) |
Y228H |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,610,131 (GRCm39) |
V401D |
possibly damaging |
Het |
| Plod1 |
C |
T |
4: 148,010,657 (GRCm39) |
E265K |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,646,664 (GRCm39) |
|
probably null |
Het |
| Qars1 |
C |
T |
9: 108,391,282 (GRCm39) |
Q7* |
probably null |
Het |
| Rpap2 |
T |
A |
5: 107,780,961 (GRCm39) |
V479E |
possibly damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,421,749 (GRCm39) |
Y723C |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,765,818 (GRCm39) |
M1306K |
probably benign |
Het |
| Sesn3 |
A |
C |
9: 14,219,941 (GRCm39) |
Y110S |
probably damaging |
Het |
| Sgce |
C |
T |
6: 4,691,511 (GRCm39) |
V319I |
probably benign |
Het |
| Slc15a5 |
G |
T |
6: 138,056,762 (GRCm39) |
F51L |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,395,765 (GRCm39) |
C723S |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,027,862 (GRCm39) |
|
probably null |
Het |
| Snx2 |
T |
A |
18: 53,330,950 (GRCm39) |
D138E |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,729,740 (GRCm39) |
L126* |
probably null |
Het |
| Stam |
T |
C |
2: 14,133,837 (GRCm39) |
S195P |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,990,271 (GRCm39) |
I82V |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,072,412 (GRCm39) |
C202* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,899,681 (GRCm39) |
D683G |
probably benign |
Het |
| Tfec |
A |
G |
6: 16,835,307 (GRCm39) |
V157A |
probably damaging |
Het |
| Tff1 |
T |
G |
17: 31,383,912 (GRCm39) |
Q28P |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,314 (GRCm39) |
Y396H |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,307,829 (GRCm39) |
M803K |
probably damaging |
Het |
| Vmn2r90 |
A |
G |
17: 17,953,566 (GRCm39) |
K577E |
probably damaging |
Het |
| Vrk1 |
T |
C |
12: 106,002,799 (GRCm39) |
|
probably benign |
Het |
| Wdr20 |
A |
G |
12: 110,760,157 (GRCm39) |
T348A |
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 |
|
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 |
|
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'- GGAACTGTCACGTGCTTATCC -3'
(R):5'- GGCCATTCTTATTCAAACCACC -3'
Sequencing Primer
(F):5'- AATAGGTGACTTAAAAATCTGAGTGG -3'
(R):5'- TTCTTATTCAAACCACCATACACAC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation