Incidental Mutation 'R2421:Ccdc18'
ID |
249281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc18
|
Ensembl Gene |
ENSMUSG00000056531 |
Gene Name |
coiled-coil domain containing 18 |
Synonyms |
4932411G06Rik, 1700021E15Rik |
MMRRC Submission |
040383-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2421 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108132875-108233628 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 108228588 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1298
(E1298D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
AlphaFold |
Q640L5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047677
AA Change: E1298D
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000036507 Gene: ENSMUSG00000056531 AA Change: E1298D
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 |
0.0809  |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
96% (81/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
C |
T |
5: 100,812,174 (GRCm38) |
R104H |
possibly damaging |
Het |
Adamts3 |
A |
G |
5: 89,683,175 (GRCm38) |
S1007P |
probably damaging |
Het |
Adcy10 |
T |
A |
1: 165,558,597 (GRCm38) |
L1118Q |
probably damaging |
Het |
Adgre4 |
A |
G |
17: 55,778,872 (GRCm38) |
E57G |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,306,616 (GRCm38) |
S1036G |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,982,204 (GRCm38) |
|
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,755,896 (GRCm38) |
|
probably benign |
Het |
Antxrl |
A |
G |
14: 34,071,689 (GRCm38) |
|
probably benign |
Het |
Apaf1 |
A |
T |
10: 91,020,723 (GRCm38) |
V874D |
probably damaging |
Het |
Arhgap39 |
T |
A |
15: 76,725,146 (GRCm38) |
T1025S |
probably damaging |
Het |
Arhgef12 |
A |
T |
9: 43,001,006 (GRCm38) |
C519S |
probably damaging |
Het |
Aspm |
G |
A |
1: 139,488,487 (GRCm38) |
V1512M |
possibly damaging |
Het |
Atp13a3 |
T |
C |
16: 30,349,825 (GRCm38) |
T449A |
probably benign |
Het |
Atxn2 |
A |
T |
5: 121,802,079 (GRCm38) |
|
probably null |
Het |
Birc6 |
T |
A |
17: 74,660,614 (GRCm38) |
L301Q |
probably damaging |
Het |
Camk2d |
A |
G |
3: 126,780,415 (GRCm38) |
D157G |
probably damaging |
Het |
Ccdc122 |
T |
C |
14: 77,091,663 (GRCm38) |
|
probably benign |
Het |
Ccdc137 |
G |
A |
11: 120,462,264 (GRCm38) |
|
probably null |
Het |
Col4a3 |
G |
A |
1: 82,670,275 (GRCm38) |
|
probably benign |
Het |
Coq10b |
G |
A |
1: 55,052,977 (GRCm38) |
A35T |
probably benign |
Het |
Cracdl |
C |
A |
1: 37,613,475 (GRCm38) |
V1084L |
probably benign |
Het |
Creb3l3 |
T |
C |
10: 81,091,818 (GRCm38) |
I47V |
probably benign |
Het |
Csgalnact1 |
A |
T |
8: 68,461,508 (GRCm38) |
I15N |
probably benign |
Het |
Dcp1b |
A |
G |
6: 119,215,266 (GRCm38) |
Q381R |
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,461,935 (GRCm38) |
S127P |
probably benign |
Het |
Dnal1 |
C |
T |
12: 84,136,706 (GRCm38) |
Q80* |
probably null |
Het |
Dtd2 |
A |
G |
12: 51,999,855 (GRCm38) |
V67A |
probably benign |
Het |
Gart |
A |
G |
16: 91,643,040 (GRCm38) |
|
probably null |
Het |
Gm17421 |
T |
A |
12: 113,369,487 (GRCm38) |
|
noncoding transcript |
Het |
Gm6327 |
T |
C |
16: 12,760,094 (GRCm38) |
|
noncoding transcript |
Het |
Gm8674 |
T |
C |
13: 49,900,663 (GRCm38) |
|
noncoding transcript |
Het |
Gpr107 |
G |
A |
2: 31,185,529 (GRCm38) |
G351S |
probably damaging |
Het |
H2-M10.5 |
A |
G |
17: 36,774,999 (GRCm38) |
I308V |
probably benign |
Het |
Krt13 |
A |
T |
11: 100,120,051 (GRCm38) |
L159Q |
probably benign |
Het |
Krt78 |
T |
C |
15: 101,947,264 (GRCm38) |
E704G |
probably damaging |
Het |
Lama1 |
A |
T |
17: 67,750,553 (GRCm38) |
M541L |
probably benign |
Het |
Lenep |
G |
A |
3: 89,402,574 (GRCm38) |
|
probably null |
Het |
Lrp1b |
T |
C |
2: 40,882,133 (GRCm38) |
|
probably benign |
Het |
Ly6g6e |
G |
A |
17: 35,078,146 (GRCm38) |
R121Q |
probably benign |
Het |
Lyn |
C |
T |
4: 3,748,787 (GRCm38) |
A255V |
possibly damaging |
Het |
Mdn1 |
T |
A |
4: 32,723,621 (GRCm38) |
I2519K |
probably damaging |
Het |
Mmaa |
T |
A |
8: 79,281,432 (GRCm38) |
R59W |
probably damaging |
Het |
Ms4a4b |
A |
G |
19: 11,454,697 (GRCm38) |
I61V |
possibly damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,655,737 (GRCm38) |
E298G |
probably damaging |
Het |
Olfr175-ps1 |
T |
C |
16: 58,824,346 (GRCm38) |
D121G |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,950,528 (GRCm38) |
L81P |
possibly damaging |
Het |
Or13a1 |
T |
A |
6: 116,493,713 (GRCm38) |
C35S |
probably benign |
Het |
Or4c114 |
T |
C |
2: 89,074,992 (GRCm38) |
Y33C |
possibly damaging |
Het |
Or5k15 |
T |
C |
16: 58,889,965 (GRCm38) |
E85G |
probably benign |
Het |
Pef1 |
C |
A |
4: 130,127,317 (GRCm38) |
C221* |
probably null |
Het |
Plekhg1 |
G |
A |
10: 3,958,048 (GRCm38) |
M988I |
probably benign |
Het |
Pnliprp1 |
T |
A |
19: 58,744,085 (GRCm38) |
I460N |
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,327,400 (GRCm38) |
N239S |
probably benign |
Het |
Ppp4r3a |
A |
G |
12: 101,042,653 (GRCm38) |
|
probably benign |
Het |
Prlr |
T |
A |
15: 10,319,257 (GRCm38) |
W91R |
probably damaging |
Het |
Psmd2 |
T |
A |
16: 20,660,106 (GRCm38) |
|
probably null |
Het |
Ptprt |
T |
A |
2: 162,278,040 (GRCm38) |
|
probably benign |
Het |
Pttg1ip2 |
T |
C |
5: 5,455,912 (GRCm38) |
Y123C |
probably benign |
Het |
Rbm12b2 |
T |
C |
4: 12,095,127 (GRCm38) |
F662S |
possibly damaging |
Het |
Rgs6 |
C |
A |
12: 83,116,283 (GRCm38) |
T421K |
possibly damaging |
Het |
Ryr2 |
T |
G |
13: 11,591,237 (GRCm38) |
Q4486H |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,726,302 (GRCm38) |
|
probably benign |
Het |
Smc1a |
A |
G |
X: 152,047,975 (GRCm38) |
|
probably benign |
Het |
Synrg |
A |
G |
11: 84,009,224 (GRCm38) |
E674G |
probably damaging |
Het |
Syt9 |
G |
A |
7: 107,436,781 (GRCm38) |
R335K |
probably benign |
Het |
Taar7a |
T |
C |
10: 23,992,517 (GRCm38) |
N322S |
probably damaging |
Het |
Tfb2m |
C |
A |
1: 179,533,666 (GRCm38) |
W252C |
possibly damaging |
Het |
Tmub2 |
T |
A |
11: 102,287,755 (GRCm38) |
D161E |
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,566 (GRCm38) |
S206L |
probably benign |
Het |
Tyw1 |
A |
T |
5: 130,269,260 (GRCm38) |
H214L |
probably damaging |
Het |
Tyw5 |
A |
G |
1: 57,396,748 (GRCm38) |
I82T |
possibly damaging |
Het |
Uba6 |
A |
G |
5: 86,132,616 (GRCm38) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,931,547 (GRCm38) |
Y674C |
probably damaging |
Het |
Vangl2 |
T |
C |
1: 172,007,959 (GRCm38) |
Y382C |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,227,835 (GRCm38) |
R242S |
probably benign |
Het |
Vmn2r12 |
A |
G |
5: 109,086,532 (GRCm38) |
Y605H |
probably benign |
Het |
Vps13a |
T |
G |
19: 16,759,671 (GRCm38) |
I101L |
probably benign |
Het |
Washc4 |
T |
A |
10: 83,579,521 (GRCm38) |
F792I |
probably damaging |
Het |
Wdhd1 |
G |
A |
14: 47,258,584 (GRCm38) |
H608Y |
probably benign |
Het |
Wdr48 |
T |
A |
9: 119,902,404 (GRCm38) |
I56K |
probably damaging |
Het |
Xpo4 |
T |
C |
14: 57,629,503 (GRCm38) |
D194G |
probably benign |
Het |
Zfp644 |
A |
G |
5: 106,637,244 (GRCm38) |
M479T |
possibly damaging |
Het |
Zfp821 |
T |
A |
8: 109,709,533 (GRCm38) |
|
probably null |
Het |
Zswim8 |
A |
G |
14: 20,719,457 (GRCm38) |
Y1237C |
probably damaging |
Het |
|
Other mutations in Ccdc18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00836:Ccdc18
|
APN |
5 |
108,180,525 (GRCm38) |
missense |
probably benign |
0.01 |
IGL01380:Ccdc18
|
APN |
5 |
108,180,887 (GRCm38) |
missense |
probably damaging |
0.96 |
IGL01405:Ccdc18
|
APN |
5 |
108,202,186 (GRCm38) |
splice site |
probably benign |
|
IGL01718:Ccdc18
|
APN |
5 |
108,201,348 (GRCm38) |
missense |
possibly damaging |
0.81 |
IGL02098:Ccdc18
|
APN |
5 |
108,202,111 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02227:Ccdc18
|
APN |
5 |
108,148,922 (GRCm38) |
missense |
possibly damaging |
0.89 |
IGL02391:Ccdc18
|
APN |
5 |
108,136,052 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02794:Ccdc18
|
APN |
5 |
108,171,748 (GRCm38) |
missense |
probably benign |
0.00 |
IGL02808:Ccdc18
|
APN |
5 |
108,135,969 (GRCm38) |
splice site |
probably benign |
|
IGL02880:Ccdc18
|
APN |
5 |
108,135,444 (GRCm38) |
missense |
probably benign |
0.31 |
IGL03069:Ccdc18
|
APN |
5 |
108,228,901 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03390:Ccdc18
|
APN |
5 |
108,212,131 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4402001:Ccdc18
|
UTSW |
5 |
108,158,619 (GRCm38) |
missense |
possibly damaging |
0.94 |
R0004:Ccdc18
|
UTSW |
5 |
108,161,700 (GRCm38) |
missense |
possibly damaging |
0.52 |
R0112:Ccdc18
|
UTSW |
5 |
108,173,761 (GRCm38) |
missense |
probably damaging |
1.00 |
R0295:Ccdc18
|
UTSW |
5 |
108,173,789 (GRCm38) |
missense |
probably damaging |
1.00 |
R0546:Ccdc18
|
UTSW |
5 |
108,174,964 (GRCm38) |
missense |
probably benign |
0.06 |
R0619:Ccdc18
|
UTSW |
5 |
108,180,416 (GRCm38) |
missense |
probably benign |
0.04 |
R0648:Ccdc18
|
UTSW |
5 |
108,174,987 (GRCm38) |
missense |
probably damaging |
1.00 |
R0648:Ccdc18
|
UTSW |
5 |
108,135,560 (GRCm38) |
missense |
probably damaging |
0.99 |
R0666:Ccdc18
|
UTSW |
5 |
108,163,664 (GRCm38) |
missense |
probably benign |
0.19 |
R1271:Ccdc18
|
UTSW |
5 |
108,202,116 (GRCm38) |
nonsense |
probably null |
|
R1509:Ccdc18
|
UTSW |
5 |
108,188,978 (GRCm38) |
missense |
possibly damaging |
0.89 |
R1539:Ccdc18
|
UTSW |
5 |
108,191,977 (GRCm38) |
missense |
probably damaging |
1.00 |
R1542:Ccdc18
|
UTSW |
5 |
108,212,188 (GRCm38) |
missense |
probably benign |
|
R1663:Ccdc18
|
UTSW |
5 |
108,216,090 (GRCm38) |
missense |
probably damaging |
1.00 |
R1865:Ccdc18
|
UTSW |
5 |
108,193,802 (GRCm38) |
missense |
probably benign |
0.00 |
R1870:Ccdc18
|
UTSW |
5 |
108,220,837 (GRCm38) |
missense |
possibly damaging |
0.90 |
R1897:Ccdc18
|
UTSW |
5 |
108,196,042 (GRCm38) |
missense |
probably benign |
0.00 |
R1946:Ccdc18
|
UTSW |
5 |
108,228,995 (GRCm38) |
missense |
probably damaging |
1.00 |
R2420:Ccdc18
|
UTSW |
5 |
108,228,588 (GRCm38) |
missense |
probably damaging |
0.96 |
R2422:Ccdc18
|
UTSW |
5 |
108,228,588 (GRCm38) |
missense |
probably damaging |
0.96 |
R4078:Ccdc18
|
UTSW |
5 |
108,158,528 (GRCm38) |
nonsense |
probably null |
|
R4079:Ccdc18
|
UTSW |
5 |
108,158,528 (GRCm38) |
nonsense |
probably null |
|
R4244:Ccdc18
|
UTSW |
5 |
108,148,972 (GRCm38) |
nonsense |
probably null |
|
R4409:Ccdc18
|
UTSW |
5 |
108,220,842 (GRCm38) |
nonsense |
probably null |
|
R4428:Ccdc18
|
UTSW |
5 |
108,136,077 (GRCm38) |
missense |
probably benign |
0.01 |
R4455:Ccdc18
|
UTSW |
5 |
108,161,529 (GRCm38) |
missense |
possibly damaging |
0.68 |
R4499:Ccdc18
|
UTSW |
5 |
108,228,960 (GRCm38) |
missense |
possibly damaging |
0.62 |
R4612:Ccdc18
|
UTSW |
5 |
108,135,441 (GRCm38) |
missense |
probably benign |
0.01 |
R4907:Ccdc18
|
UTSW |
5 |
108,136,141 (GRCm38) |
missense |
probably benign |
0.01 |
R4972:Ccdc18
|
UTSW |
5 |
108,192,003 (GRCm38) |
missense |
probably benign |
|
R5039:Ccdc18
|
UTSW |
5 |
108,158,648 (GRCm38) |
critical splice donor site |
probably null |
|
R5835:Ccdc18
|
UTSW |
5 |
108,140,874 (GRCm38) |
missense |
possibly damaging |
0.94 |
R5854:Ccdc18
|
UTSW |
5 |
108,206,728 (GRCm38) |
missense |
possibly damaging |
0.79 |
R6128:Ccdc18
|
UTSW |
5 |
108,163,759 (GRCm38) |
missense |
possibly damaging |
0.76 |
R6229:Ccdc18
|
UTSW |
5 |
108,171,618 (GRCm38) |
missense |
probably benign |
0.00 |
R6271:Ccdc18
|
UTSW |
5 |
108,174,887 (GRCm38) |
missense |
possibly damaging |
0.65 |
R6315:Ccdc18
|
UTSW |
5 |
108,161,582 (GRCm38) |
missense |
probably benign |
|
R6359:Ccdc18
|
UTSW |
5 |
108,135,525 (GRCm38) |
missense |
probably damaging |
1.00 |
R6375:Ccdc18
|
UTSW |
5 |
108,174,954 (GRCm38) |
missense |
possibly damaging |
0.79 |
R6388:Ccdc18
|
UTSW |
5 |
108,201,348 (GRCm38) |
missense |
possibly damaging |
0.81 |
R6415:Ccdc18
|
UTSW |
5 |
108,161,746 (GRCm38) |
missense |
probably benign |
0.03 |
R6560:Ccdc18
|
UTSW |
5 |
108,191,924 (GRCm38) |
missense |
probably benign |
0.09 |
R6645:Ccdc18
|
UTSW |
5 |
108,138,930 (GRCm38) |
missense |
probably benign |
|
R6664:Ccdc18
|
UTSW |
5 |
108,168,100 (GRCm38) |
nonsense |
probably null |
|
R6836:Ccdc18
|
UTSW |
5 |
108,197,967 (GRCm38) |
missense |
probably damaging |
1.00 |
R6947:Ccdc18
|
UTSW |
5 |
108,161,535 (GRCm38) |
missense |
probably benign |
0.26 |
R7009:Ccdc18
|
UTSW |
5 |
108,173,862 (GRCm38) |
critical splice donor site |
probably null |
|
R7052:Ccdc18
|
UTSW |
5 |
108,161,688 (GRCm38) |
missense |
probably benign |
0.15 |
R7058:Ccdc18
|
UTSW |
5 |
108,193,798 (GRCm38) |
missense |
probably benign |
|
R7087:Ccdc18
|
UTSW |
5 |
108,196,122 (GRCm38) |
missense |
probably benign |
|
R7117:Ccdc18
|
UTSW |
5 |
108,148,969 (GRCm38) |
missense |
possibly damaging |
0.95 |
R7176:Ccdc18
|
UTSW |
5 |
108,168,106 (GRCm38) |
missense |
probably benign |
|
R7382:Ccdc18
|
UTSW |
5 |
108,139,007 (GRCm38) |
missense |
probably damaging |
1.00 |
R7477:Ccdc18
|
UTSW |
5 |
108,220,850 (GRCm38) |
missense |
probably damaging |
0.98 |
R7493:Ccdc18
|
UTSW |
5 |
108,206,617 (GRCm38) |
nonsense |
probably null |
|
R7506:Ccdc18
|
UTSW |
5 |
108,163,739 (GRCm38) |
missense |
possibly damaging |
0.85 |
R7635:Ccdc18
|
UTSW |
5 |
108,229,049 (GRCm38) |
critical splice donor site |
probably null |
|
R7690:Ccdc18
|
UTSW |
5 |
108,228,662 (GRCm38) |
missense |
probably benign |
0.00 |
R7748:Ccdc18
|
UTSW |
5 |
108,149,041 (GRCm38) |
critical splice donor site |
probably null |
|
R7812:Ccdc18
|
UTSW |
5 |
108,180,833 (GRCm38) |
missense |
probably benign |
0.00 |
R8017:Ccdc18
|
UTSW |
5 |
108,228,645 (GRCm38) |
nonsense |
probably null |
|
R8019:Ccdc18
|
UTSW |
5 |
108,228,645 (GRCm38) |
nonsense |
probably null |
|
R8172:Ccdc18
|
UTSW |
5 |
108,163,774 (GRCm38) |
critical splice donor site |
probably null |
|
R8177:Ccdc18
|
UTSW |
5 |
108,197,795 (GRCm38) |
missense |
possibly damaging |
0.65 |
R8344:Ccdc18
|
UTSW |
5 |
108,161,503 (GRCm38) |
missense |
possibly damaging |
0.88 |
R8351:Ccdc18
|
UTSW |
5 |
108,155,797 (GRCm38) |
missense |
probably damaging |
1.00 |
R8415:Ccdc18
|
UTSW |
5 |
108,216,033 (GRCm38) |
missense |
probably damaging |
1.00 |
R8451:Ccdc18
|
UTSW |
5 |
108,155,797 (GRCm38) |
missense |
probably damaging |
1.00 |
R8547:Ccdc18
|
UTSW |
5 |
108,197,859 (GRCm38) |
missense |
probably damaging |
1.00 |
R8725:Ccdc18
|
UTSW |
5 |
108,180,417 (GRCm38) |
missense |
possibly damaging |
0.66 |
R9137:Ccdc18
|
UTSW |
5 |
108,148,990 (GRCm38) |
missense |
probably damaging |
0.98 |
R9391:Ccdc18
|
UTSW |
5 |
108,228,904 (GRCm38) |
missense |
probably benign |
0.02 |
R9418:Ccdc18
|
UTSW |
5 |
108,155,803 (GRCm38) |
missense |
probably damaging |
1.00 |
R9536:Ccdc18
|
UTSW |
5 |
108,138,926 (GRCm38) |
missense |
probably benign |
0.01 |
R9565:Ccdc18
|
UTSW |
5 |
108,191,934 (GRCm38) |
missense |
probably damaging |
0.99 |
RF013:Ccdc18
|
UTSW |
5 |
108,220,716 (GRCm38) |
missense |
probably benign |
0.05 |
X0024:Ccdc18
|
UTSW |
5 |
108,191,922 (GRCm38) |
missense |
probably benign |
0.01 |
X0063:Ccdc18
|
UTSW |
5 |
108,212,197 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAAGAAGGTTTGAACAACACTTGC -3'
(R):5'- ACTGGCACTAATAGACCGACGTAG -3'
Sequencing Primer
(F):5'- AATTTCTGAGTTCGAGGCCAGC -3'
(R):5'- CGTAGTTTTCTGCATTTGAAAAGTG -3'
|
Posted On |
2014-11-12 |