Incidental Mutation 'R0112:Ccdc18'
| ID |
20498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
038398-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0112 (G1)
|
| Quality Score |
112 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108321627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 577
(K577R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047677
AA Change: K577R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: K577R
| 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 |
0.1060 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (86/86) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,815 (GRCm39) |
Y179F |
probably benign |
Het |
| Abcd4 |
A |
G |
12: 84,659,673 (GRCm39) |
|
probably benign |
Het |
| Abhd12b |
C |
T |
12: 70,227,791 (GRCm39) |
T191M |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 34,976,548 (GRCm39) |
E27G |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,282,902 (GRCm39) |
|
probably benign |
Het |
| Afdn |
T |
C |
17: 14,104,899 (GRCm39) |
S1186P |
probably damaging |
Het |
| Atf6b |
G |
T |
17: 34,870,600 (GRCm39) |
R351L |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,830,223 (GRCm39) |
S348P |
possibly damaging |
Het |
| Bfsp1 |
A |
C |
2: 143,669,563 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
G |
15: 88,614,586 (GRCm39) |
V103A |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,642,547 (GRCm39) |
K392N |
probably damaging |
Het |
| Csmd2 |
G |
T |
4: 128,389,822 (GRCm39) |
G2186C |
probably damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
| Defb3 |
T |
A |
8: 19,343,423 (GRCm39) |
L12Q |
probably null |
Het |
| Defb7 |
G |
T |
8: 19,545,186 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
T |
A |
2: 158,682,540 (GRCm39) |
M491K |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,965,260 (GRCm39) |
S2261G |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,263,825 (GRCm39) |
E853D |
probably benign |
Het |
| Dner |
C |
A |
1: 84,560,774 (GRCm39) |
A23S |
probably benign |
Het |
| Dock5 |
A |
C |
14: 68,057,090 (GRCm39) |
S539A |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,716,099 (GRCm39) |
F317I |
probably benign |
Het |
| Enox1 |
A |
T |
14: 77,936,638 (GRCm39) |
I539F |
possibly damaging |
Het |
| Eogt |
G |
A |
6: 97,112,245 (GRCm39) |
|
probably benign |
Het |
| Fbxo22 |
A |
G |
9: 55,130,630 (GRCm39) |
T300A |
probably benign |
Het |
| Fes |
T |
C |
7: 80,033,753 (GRCm39) |
D166G |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,648,812 (GRCm39) |
S1366P |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,777,935 (GRCm39) |
|
probably benign |
Het |
| Foxh1 |
T |
C |
15: 76,553,210 (GRCm39) |
H168R |
probably benign |
Het |
| Galnt14 |
T |
G |
17: 73,881,979 (GRCm39) |
|
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,844,482 (GRCm39) |
D2G |
probably damaging |
Het |
| Gp6 |
C |
A |
7: 4,373,183 (GRCm39) |
A247S |
probably benign |
Het |
| Gp6 |
G |
C |
7: 4,374,626 (GRCm39) |
P232A |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,981,340 (GRCm39) |
T198A |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,563,774 (GRCm39) |
|
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,311 (GRCm39) |
E180G |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,233,429 (GRCm39) |
V1768A |
probably benign |
Het |
| Ints10 |
A |
T |
8: 69,279,954 (GRCm39) |
T694S |
probably damaging |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lipc |
T |
A |
9: 70,727,709 (GRCm39) |
Y131F |
probably damaging |
Het |
| Litaf |
G |
T |
16: 10,784,375 (GRCm39) |
T45K |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,124,629 (GRCm39) |
R363* |
probably null |
Het |
| Lrrc37a |
A |
T |
11: 103,391,739 (GRCm39) |
Y1229N |
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,008,024 (GRCm39) |
A943T |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,565,380 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Naalad2 |
G |
T |
9: 18,262,743 (GRCm39) |
Y384* |
probably null |
Het |
| Nat2 |
C |
T |
8: 67,954,378 (GRCm39) |
Q163* |
probably null |
Het |
| Nell2 |
A |
G |
15: 95,329,562 (GRCm39) |
|
probably benign |
Het |
| Nphp3 |
C |
T |
9: 103,914,547 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,869 (GRCm39) |
S46G |
possibly damaging |
Het |
| Or2y13 |
A |
T |
11: 49,414,961 (GRCm39) |
H137L |
possibly damaging |
Het |
| Or52x1 |
A |
T |
7: 104,852,866 (GRCm39) |
M228K |
probably benign |
Het |
| Or5b94 |
C |
T |
19: 12,652,121 (GRCm39) |
T184I |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,390 (GRCm39) |
A63E |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,245,714 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,544,761 (GRCm39) |
C629R |
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,454,978 (GRCm39) |
T620A |
probably benign |
Het |
| Rskr |
T |
C |
11: 78,182,507 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,376,031 (GRCm39) |
D410A |
possibly damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,511,934 (GRCm39) |
|
probably benign |
Het |
| Slc19a1 |
T |
C |
10: 76,877,999 (GRCm39) |
I178T |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,616,837 (GRCm39) |
Y390F |
probably benign |
Het |
| Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
| Tbc1d9 |
C |
A |
8: 83,991,466 (GRCm39) |
|
probably benign |
Het |
| Tmem131l |
G |
A |
3: 83,847,894 (GRCm39) |
Q324* |
probably null |
Het |
| Trf |
A |
G |
9: 103,104,155 (GRCm39) |
|
probably benign |
Het |
| Trp53 |
T |
G |
11: 69,479,505 (GRCm39) |
Y202D |
probably damaging |
Het |
| Trpv1 |
T |
A |
11: 73,144,098 (GRCm39) |
M618K |
probably damaging |
Het |
| Trrap |
C |
A |
5: 144,759,571 (GRCm39) |
Y2250* |
probably null |
Het |
| Ttc3 |
A |
G |
16: 94,186,181 (GRCm39) |
|
probably benign |
Het |
| Ubtfl1 |
T |
G |
9: 18,321,083 (GRCm39) |
S204A |
probably benign |
Het |
| Uck2 |
A |
T |
1: 167,055,340 (GRCm39) |
Y203N |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,562,209 (GRCm39) |
L1280* |
probably null |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,609 (GRCm39) |
H146L |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,897 (GRCm39) |
M209V |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,990,991 (GRCm39) |
T790I |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,463,866 (GRCm39) |
R808L |
probably benign |
Het |
| Zbtb7c |
A |
T |
18: 76,269,962 (GRCm39) |
S17C |
probably damaging |
Het |
| Zfp811 |
C |
T |
17: 33,016,738 (GRCm39) |
R434Q |
probably damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,705,689 (GRCm39) |
|
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 |
|
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 |
|
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'- cctggctACCAGCCTAGTTTTCAAG -3'
(R):5'- GACCAGAGAAGAGACTCTCTCCAACA -3'
Sequencing Primer
(F):5'- CACAATATAGCCTAAGT -3'
(R):5'- atccaatttcaaacactaaaaggaac -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation