Incidental Mutation 'R6229:Ccdc18'
ID |
504545 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc18
|
Ensembl Gene |
ENSMUSG00000056531 |
Gene Name |
coiled-coil domain containing 18 |
Synonyms |
1700021E15Rik, 4932411G06Rik |
MMRRC Submission |
044358-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6229 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108319484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 502
(I502L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
AlphaFold |
Q640L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047677
AA Change: I502L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000036507 Gene: ENSMUSG00000056531 AA Change: I502L
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
G |
A |
1: 120,099,213 (GRCm39) |
|
probably null |
Het |
Adamts6 |
G |
A |
13: 104,483,900 (GRCm39) |
|
probably null |
Het |
Add3 |
C |
A |
19: 53,223,277 (GRCm39) |
A343D |
probably benign |
Het |
Ankub1 |
T |
C |
3: 57,572,528 (GRCm39) |
D398G |
probably benign |
Het |
Apbb1 |
C |
T |
7: 105,222,937 (GRCm39) |
A225T |
probably damaging |
Het |
Apbb1 |
C |
A |
7: 105,222,938 (GRCm39) |
W224C |
probably damaging |
Het |
Arhgef40 |
A |
T |
14: 52,227,547 (GRCm39) |
Q431L |
probably benign |
Het |
Calm4 |
A |
G |
13: 3,888,038 (GRCm39) |
D48G |
possibly damaging |
Het |
Cftr |
T |
C |
6: 18,220,683 (GRCm39) |
S185P |
probably damaging |
Het |
Chd2 |
C |
A |
7: 73,101,471 (GRCm39) |
K1418N |
possibly damaging |
Het |
Cmya5 |
A |
C |
13: 93,229,814 (GRCm39) |
V1758G |
probably benign |
Het |
Cpsf4l |
T |
C |
11: 113,599,680 (GRCm39) |
K35R |
possibly damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,727,622 (GRCm39) |
V119E |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnah3 |
G |
T |
7: 119,564,711 (GRCm39) |
Q2651K |
probably benign |
Het |
Eif4g2 |
T |
C |
7: 110,676,920 (GRCm39) |
|
probably null |
Het |
Enc1 |
A |
G |
13: 97,381,999 (GRCm39) |
R170G |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,741,228 (GRCm39) |
R357G |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,375,734 (GRCm39) |
K58E |
possibly damaging |
Het |
Fis1 |
A |
G |
5: 136,994,528 (GRCm39) |
|
probably null |
Het |
Fmo9 |
A |
C |
1: 166,505,126 (GRCm39) |
M89R |
possibly damaging |
Het |
Gm6096 |
A |
C |
7: 33,950,676 (GRCm39) |
I72L |
possibly damaging |
Het |
Golga5 |
G |
A |
12: 102,450,740 (GRCm39) |
M464I |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,688,464 (GRCm39) |
|
probably null |
Het |
Ift56 |
T |
A |
6: 38,371,975 (GRCm39) |
N188K |
probably benign |
Het |
Igfbpl1 |
A |
G |
4: 45,813,517 (GRCm39) |
Y233H |
probably damaging |
Het |
Il18r1 |
T |
C |
1: 40,513,923 (GRCm39) |
I43T |
probably benign |
Het |
Ints8 |
T |
C |
4: 11,252,891 (GRCm39) |
N64D |
probably damaging |
Het |
Kalrn |
A |
G |
16: 33,875,441 (GRCm39) |
S44P |
probably damaging |
Het |
Kif13b |
G |
T |
14: 64,976,016 (GRCm39) |
G444W |
probably damaging |
Het |
Lmo1 |
A |
G |
7: 108,742,832 (GRCm39) |
C13R |
probably damaging |
Het |
Lrfn2 |
T |
A |
17: 49,404,160 (GRCm39) |
M761K |
possibly damaging |
Het |
Lrrd1 |
T |
C |
5: 3,913,887 (GRCm39) |
I719T |
probably damaging |
Het |
Madd |
A |
T |
2: 90,974,015 (GRCm39) |
V1423E |
probably damaging |
Het |
Mbnl1 |
T |
A |
3: 60,528,749 (GRCm39) |
|
probably null |
Het |
Mrps28 |
T |
C |
3: 8,965,097 (GRCm39) |
D114G |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,226,792 (GRCm39) |
M1412L |
probably benign |
Het |
Myf6 |
T |
C |
10: 107,330,280 (GRCm39) |
K96E |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,197,162 (GRCm39) |
V462A |
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,287,524 (GRCm39) |
S923P |
possibly damaging |
Het |
Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
Nfatc2ip |
C |
T |
7: 125,995,113 (GRCm39) |
|
probably null |
Het |
Or11g24 |
A |
G |
14: 50,662,662 (GRCm39) |
R229G |
probably benign |
Het |
Or12e10 |
G |
T |
2: 87,640,431 (GRCm39) |
C89F |
probably damaging |
Het |
Or2w4 |
T |
C |
13: 21,795,819 (GRCm39) |
I107V |
probably benign |
Het |
Or7g33 |
T |
A |
9: 19,449,014 (GRCm39) |
I71F |
possibly damaging |
Het |
Plin2 |
A |
G |
4: 86,586,903 (GRCm39) |
V5A |
probably benign |
Het |
Pramel31 |
T |
C |
4: 144,090,199 (GRCm39) |
M413T |
probably benign |
Het |
Ptprm |
T |
A |
17: 66,995,295 (GRCm39) |
D1311V |
probably damaging |
Het |
Recql5 |
A |
T |
11: 115,821,540 (GRCm39) |
I72N |
probably damaging |
Het |
Sall2 |
A |
T |
14: 52,550,648 (GRCm39) |
M847K |
probably benign |
Het |
Slc23a1 |
T |
C |
18: 35,752,577 (GRCm39) |
R567G |
probably benign |
Het |
Slc28a1 |
G |
A |
7: 80,774,753 (GRCm39) |
R200H |
probably benign |
Het |
Smc4 |
T |
A |
3: 68,937,580 (GRCm39) |
Y843* |
probably null |
Het |
Syne2 |
C |
A |
12: 75,967,994 (GRCm39) |
Q915K |
probably benign |
Het |
Tas2r131 |
T |
A |
6: 132,933,985 (GRCm39) |
I275F |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,739,081 (GRCm39) |
H790R |
probably damaging |
Het |
Tm7sf3 |
A |
G |
6: 146,514,887 (GRCm39) |
F310S |
possibly damaging |
Het |
Tmem9b |
T |
A |
7: 109,344,627 (GRCm39) |
|
probably null |
Het |
Tnfaip8 |
A |
G |
18: 50,184,742 (GRCm39) |
|
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,838 (GRCm38) |
L835R |
probably damaging |
Het |
Trappc8 |
A |
T |
18: 21,003,802 (GRCm39) |
S209T |
probably benign |
Het |
Uap1 |
C |
T |
1: 169,994,302 (GRCm39) |
R58Q |
probably benign |
Het |
Upk3bl |
A |
G |
5: 136,092,915 (GRCm39) |
|
probably null |
Het |
Usp34 |
A |
G |
11: 23,396,778 (GRCm39) |
H596R |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,580 (GRCm39) |
A15V |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,365,883 (GRCm39) |
K350N |
probably benign |
Het |
Vmn2r89 |
A |
G |
14: 51,693,178 (GRCm39) |
H176R |
probably benign |
Het |
Vwa7 |
A |
G |
17: 35,243,241 (GRCm39) |
R640G |
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 |
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 |
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'- GCACAAATTGAGACAGTCATATGG -3'
(R):5'- TGCTAGCATTTGAAGCTTTCTC -3'
Sequencing Primer
(F):5'- GAGACAGTCATATGGTTTTTGTCC -3'
(R):5'- GCATTTGAAGCTTTCTCTAGTAGTTC -3'
|
Posted On |
2018-02-28 |