Incidental Mutation 'R1509:Ccdc18'
ID |
168130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc18
|
Ensembl Gene |
ENSMUSG00000056531 |
Gene Name |
coiled-coil domain containing 18 |
Synonyms |
1700021E15Rik, 4932411G06Rik |
MMRRC Submission |
039556-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1509 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 108336844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 741
(A741D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
AlphaFold |
Q640L5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047677
AA Change: A741D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036507 Gene: ENSMUSG00000056531 AA Change: A741D
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
Validation Efficiency |
99% (89/90) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,340,766 (GRCm39) |
S132P |
probably benign |
Het |
AC153895.1 |
T |
C |
6: 50,020,451 (GRCm39) |
R54G |
unknown |
Het |
Acot12 |
G |
A |
13: 91,919,994 (GRCm39) |
|
probably null |
Het |
Adhfe1 |
T |
A |
1: 9,623,671 (GRCm39) |
D98E |
probably benign |
Het |
Ago2 |
A |
G |
15: 72,988,213 (GRCm39) |
F594S |
probably damaging |
Het |
Aldh18a1 |
A |
G |
19: 40,545,927 (GRCm39) |
I620T |
probably damaging |
Het |
Aspscr1 |
C |
A |
11: 120,592,342 (GRCm39) |
A294D |
probably damaging |
Het |
Bod1l |
C |
G |
5: 41,976,883 (GRCm39) |
R1477T |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cfap52 |
C |
T |
11: 67,829,819 (GRCm39) |
V317I |
probably benign |
Het |
Cgn |
A |
T |
3: 94,681,568 (GRCm39) |
L509Q |
probably benign |
Het |
Crb2 |
A |
G |
2: 37,676,631 (GRCm39) |
H204R |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,504,790 (GRCm39) |
N431S |
probably damaging |
Het |
Ddx39a |
G |
A |
8: 84,446,527 (GRCm39) |
V99M |
probably damaging |
Het |
Dis3l2 |
T |
A |
1: 86,948,808 (GRCm39) |
C582S |
possibly damaging |
Het |
Dmbt1 |
G |
A |
7: 130,676,061 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,004,425 (GRCm39) |
E3846G |
probably damaging |
Het |
Dstyk |
A |
G |
1: 132,384,084 (GRCm39) |
E655G |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,357,523 (GRCm39) |
Y825C |
probably damaging |
Het |
Esp36 |
T |
A |
17: 38,728,173 (GRCm39) |
N36I |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fem1c |
A |
G |
18: 46,657,280 (GRCm39) |
S145P |
probably benign |
Het |
Galnt13 |
T |
C |
2: 54,623,094 (GRCm39) |
I80T |
probably damaging |
Het |
Gm5698 |
T |
C |
1: 31,016,728 (GRCm39) |
T108A |
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,271,607 (GRCm39) |
S442P |
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,204,491 (GRCm39) |
V22D |
possibly damaging |
Het |
Hspg2 |
C |
T |
4: 137,238,552 (GRCm39) |
|
probably benign |
Het |
Ide |
A |
G |
19: 37,262,603 (GRCm39) |
|
probably null |
Het |
Ifnar1 |
C |
A |
16: 91,300,384 (GRCm39) |
P462Q |
probably damaging |
Het |
Itgb2l |
T |
A |
16: 96,228,049 (GRCm39) |
I485F |
probably benign |
Het |
Jakmip3 |
C |
T |
7: 138,629,505 (GRCm39) |
R549W |
possibly damaging |
Het |
Lrrc36 |
A |
G |
8: 106,187,761 (GRCm39) |
Q680R |
probably damaging |
Het |
Lysmd3 |
T |
G |
13: 81,817,390 (GRCm39) |
H122Q |
probably benign |
Het |
Macf1 |
C |
A |
4: 123,577,802 (GRCm39) |
V61L |
possibly damaging |
Het |
Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
Map3k20 |
A |
T |
2: 72,194,968 (GRCm39) |
|
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,075,125 (GRCm39) |
V457A |
probably benign |
Het |
Mrpl40 |
T |
A |
16: 18,694,159 (GRCm39) |
|
probably null |
Het |
Ms4a10 |
C |
T |
19: 10,941,472 (GRCm39) |
V166I |
probably benign |
Het |
Mycl |
A |
G |
4: 122,894,100 (GRCm39) |
D300G |
probably damaging |
Het |
Naca |
T |
A |
10: 127,879,266 (GRCm39) |
|
probably benign |
Het |
Ncoa4 |
T |
C |
14: 31,895,391 (GRCm39) |
S172P |
probably damaging |
Het |
Nfatc3 |
T |
C |
8: 106,810,486 (GRCm39) |
F421L |
possibly damaging |
Het |
Nucb1 |
C |
A |
7: 45,144,649 (GRCm39) |
K301N |
probably benign |
Het |
Or1af1 |
A |
G |
2: 37,109,966 (GRCm39) |
H155R |
probably damaging |
Het |
Or52ae9 |
A |
T |
7: 103,390,243 (GRCm39) |
M68K |
probably benign |
Het |
Or5b99 |
T |
A |
19: 12,976,815 (GRCm39) |
I155N |
possibly damaging |
Het |
Panx1 |
A |
T |
9: 14,921,341 (GRCm39) |
V178E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,367,402 (GRCm39) |
V1210I |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,638,039 (GRCm39) |
H143Q |
possibly damaging |
Het |
Potefam1 |
A |
T |
2: 111,048,972 (GRCm39) |
M269K |
probably benign |
Het |
Prdm12 |
G |
A |
2: 31,544,186 (GRCm39) |
R263H |
probably damaging |
Het |
Prkdc |
A |
C |
16: 15,549,430 (GRCm39) |
K1998T |
probably damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,643,051 (GRCm39) |
S583T |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,237,921 (GRCm39) |
T567S |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,417,917 (GRCm39) |
K1065R |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,418,760 (GRCm39) |
I784T |
probably benign |
Het |
Rps10 |
A |
C |
17: 27,850,182 (GRCm39) |
F150V |
probably benign |
Het |
Rrp12 |
A |
T |
19: 41,870,639 (GRCm39) |
F499I |
probably damaging |
Het |
Sez6l2 |
G |
A |
7: 126,562,535 (GRCm39) |
R604H |
probably damaging |
Het |
Slc25a21 |
G |
T |
12: 56,904,864 (GRCm39) |
Q57K |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,395,234 (GRCm39) |
T54A |
possibly damaging |
Het |
Slc9a9 |
T |
A |
9: 95,111,011 (GRCm39) |
S610T |
probably benign |
Het |
Smc1b |
A |
T |
15: 84,970,335 (GRCm39) |
S973T |
probably benign |
Het |
Smc6 |
G |
A |
12: 11,329,734 (GRCm39) |
S164N |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,316,314 (GRCm39) |
T32A |
possibly damaging |
Het |
Spen |
T |
C |
4: 141,202,946 (GRCm39) |
I1894V |
probably benign |
Het |
Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
Stab1 |
C |
A |
14: 30,873,541 (GRCm39) |
|
probably benign |
Het |
Taar7d |
T |
G |
10: 23,904,102 (GRCm39) |
F328C |
probably damaging |
Het |
Ticam1 |
A |
T |
17: 56,578,113 (GRCm39) |
S327R |
probably benign |
Het |
Tmem248 |
C |
T |
5: 130,258,295 (GRCm39) |
|
probably benign |
Het |
Tom1 |
T |
C |
8: 75,781,259 (GRCm39) |
S83P |
probably damaging |
Het |
Txk |
T |
A |
5: 72,856,453 (GRCm39) |
Y446F |
probably damaging |
Het |
Ubap1l |
T |
A |
9: 65,279,237 (GRCm39) |
C179S |
probably benign |
Het |
Utrn |
T |
C |
10: 12,331,185 (GRCm39) |
E474G |
possibly damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,363,862 (GRCm39) |
M685V |
probably benign |
Het |
Vmn2r7 |
A |
T |
3: 64,623,881 (GRCm39) |
Y146* |
probably null |
Het |
Wdr1 |
G |
A |
5: 38,697,905 (GRCm39) |
T220M |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,915,582 (GRCm39) |
D726G |
probably damaging |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
Zeb1os1 |
A |
G |
18: 5,583,794 (GRCm39) |
|
noncoding transcript |
Het |
Zfp462 |
T |
A |
4: 55,007,667 (GRCm39) |
D35E |
probably damaging |
Het |
Zfp467 |
A |
G |
6: 48,415,621 (GRCm39) |
S344P |
possibly damaging |
Het |
Zfpm1 |
A |
T |
8: 123,034,285 (GRCm39) |
D73V |
possibly damaging |
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 |
|
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 |
|
Posted On |
2014-04-13 |