Incidental Mutation 'R1946:Ccdc18'
| ID |
216665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
4932411G06Rik, 1700021E15Rik |
| MMRRC Submission |
039964-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108132875-108233628 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108228995 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1434
(E1434G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047677
AA Change: E1434G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: E1434G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 76,891,704 (GRCm38) |
S253P |
probably damaging |
Het |
| Adamts5 |
C |
A |
16: 85,899,243 (GRCm38) |
C342F |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,374,249 (GRCm38) |
C5923Y |
probably damaging |
Het |
| Aen |
G |
C |
7: 78,902,672 (GRCm38) |
E32Q |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,744,630 (GRCm38) |
|
probably null |
Het |
| Arhgap44 |
A |
G |
11: 65,012,096 (GRCm38) |
M509T |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,122,633 (GRCm38) |
T56A |
probably null |
Het |
| Atoh1 |
T |
C |
6: 64,729,459 (GRCm38) |
V46A |
probably benign |
Het |
| Bmpr2 |
T |
C |
1: 59,868,397 (GRCm38) |
V883A |
possibly damaging |
Het |
| Bpifa1 |
A |
T |
2: 154,145,634 (GRCm38) |
I135F |
probably damaging |
Het |
| Bsn |
A |
G |
9: 108,114,651 (GRCm38) |
F1301L |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,350,525 (GRCm38) |
E240G |
possibly damaging |
Het |
| Coq8b |
G |
A |
7: 27,239,874 (GRCm38) |
V150I |
possibly damaging |
Het |
| Cpn1 |
G |
A |
19: 43,956,518 (GRCm38) |
T450M |
probably benign |
Het |
| Dlg4 |
A |
G |
11: 70,039,575 (GRCm38) |
Y432C |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 30,712,385 (GRCm38) |
T1458K |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,786,316 (GRCm38) |
M1132K |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,580,548 (GRCm38) |
D192G |
probably damaging |
Het |
| F930017D23Rik |
G |
A |
10: 43,593,444 (GRCm38) |
|
noncoding transcript |
Het |
| Fndc11 |
A |
T |
2: 181,221,834 (GRCm38) |
D144V |
probably benign |
Het |
| Fut2 |
A |
G |
7: 45,651,324 (GRCm38) |
F8S |
probably damaging |
Het |
| Gad2 |
A |
T |
2: 22,685,428 (GRCm38) |
T515S |
probably benign |
Het |
| Ganab |
T |
A |
19: 8,910,808 (GRCm38) |
D439E |
probably damaging |
Het |
| Gm10228 |
C |
A |
16: 89,041,353 (GRCm38) |
G21V |
unknown |
Het |
| Gm13119 |
T |
A |
4: 144,361,865 (GRCm38) |
V77E |
probably benign |
Het |
| Gm9573 |
A |
T |
17: 35,622,524 (GRCm38) |
|
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,512,123 (GRCm38) |
W576R |
probably damaging |
Het |
| Gsdmc4 |
C |
A |
15: 63,902,780 (GRCm38) |
D51Y |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,405,635 (GRCm38) |
S2619P |
probably damaging |
Het |
| Kcnq2 |
T |
A |
2: 181,088,451 (GRCm38) |
D446V |
probably benign |
Het |
| Kera |
A |
G |
10: 97,609,147 (GRCm38) |
K123E |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,315,154 (GRCm38) |
V1986E |
probably benign |
Het |
| Lrp11 |
T |
C |
10: 7,623,776 (GRCm38) |
Y244H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,665,147 (GRCm38) |
D320V |
unknown |
Het |
| Lrrcc1 |
A |
G |
3: 14,550,393 (GRCm38) |
R394G |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,736,661 (GRCm38) |
|
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,845,755 (GRCm38) |
D133E |
probably damaging |
Het |
| Megf11 |
A |
T |
9: 64,679,276 (GRCm38) |
D461V |
probably damaging |
Het |
| Msrb3 |
A |
G |
10: 120,852,008 (GRCm38) |
V54A |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 166,059,177 (GRCm38) |
N896K |
possibly damaging |
Het |
| Ncor2 |
G |
A |
5: 125,034,412 (GRCm38) |
T1314I |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,978,514 (GRCm38) |
Q1316R |
possibly damaging |
Het |
| Nfe2l3 |
A |
C |
6: 51,457,315 (GRCm38) |
Q285P |
probably damaging |
Het |
| Nkd1 |
C |
T |
8: 88,592,117 (GRCm38) |
H357Y |
probably damaging |
Het |
| Nmt2 |
T |
A |
2: 3,322,635 (GRCm38) |
I355N |
probably benign |
Het |
| Olfr1333 |
T |
C |
4: 118,830,026 (GRCm38) |
N139S |
probably benign |
Het |
| Olfr1354 |
T |
A |
10: 78,916,924 (GRCm38) |
I28N |
probably damaging |
Het |
| Olfr1469 |
T |
C |
19: 13,410,779 (GRCm38) |
V70A |
possibly damaging |
Het |
| Olfr147 |
T |
A |
9: 38,402,886 (GRCm38) |
M1K |
probably null |
Het |
| Olfr290 |
T |
C |
7: 84,916,279 (GRCm38) |
S167P |
probably benign |
Het |
| Olfr353 |
A |
T |
2: 36,890,446 (GRCm38) |
M134K |
possibly damaging |
Het |
| Otx1 |
G |
T |
11: 21,998,482 (GRCm38) |
T46K |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 15,007,526 (GRCm38) |
C346R |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,478,899 (GRCm38) |
L304* |
probably null |
Het |
| Plet1 |
A |
G |
9: 50,504,352 (GRCm38) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,607,135 (GRCm38) |
S707G |
probably damaging |
Het |
| Plscr4 |
G |
A |
9: 92,483,836 (GRCm38) |
V120I |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,892,270 (GRCm38) |
V245A |
probably damaging |
Het |
| Ppp2r2d |
A |
G |
7: 138,868,467 (GRCm38) |
D19G |
probably damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,210,427 (GRCm38) |
V572I |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,131,849 (GRCm38) |
I110V |
probably damaging |
Het |
| Sec24d |
A |
T |
3: 123,353,394 (GRCm38) |
H667L |
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,573,843 (GRCm38) |
Q573R |
probably damaging |
Het |
| Snx19 |
T |
A |
9: 30,432,324 (GRCm38) |
N593K |
probably damaging |
Het |
| Sulf1 |
T |
C |
1: 12,796,907 (GRCm38) |
V105A |
probably benign |
Het |
| Syngr3 |
T |
C |
17: 24,687,706 (GRCm38) |
N45S |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,735,808 (GRCm38) |
H524L |
probably damaging |
Het |
| Tex30 |
C |
T |
1: 44,091,404 (GRCm38) |
G68D |
probably damaging |
Het |
| Tmem43 |
A |
T |
6: 91,486,909 (GRCm38) |
I389F |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 64,223,808 (GRCm38) |
N488Y |
probably damaging |
Het |
| Usf2 |
T |
C |
7: 30,956,238 (GRCm38) |
T1A |
probably null |
Het |
| Vill |
A |
T |
9: 119,058,492 (GRCm38) |
H108L |
probably benign |
Het |
| Vmn1r16 |
T |
C |
6: 57,322,900 (GRCm38) |
I246V |
probably benign |
Het |
| Vmn1r188 |
T |
G |
13: 22,088,645 (GRCm38) |
S256R |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,245,378 (GRCm38) |
E487K |
probably damaging |
Het |
| Zfp24 |
AC |
A |
18: 24,014,419 (GRCm38) |
|
probably null |
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 |
|
R2420:Ccdc18
|
UTSW |
5 |
108,228,588 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2421: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'- GTGCCAGTGACCTGAGTTTC -3'
(R):5'- AGGAAGCCTGGAACTTCTAACC -3'
Sequencing Primer
(F):5'- GCCAGTGACCTGAGTTTCAAAAGTC -3'
(R):5'- GGAACTTCTAACCCCACATTTTGG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation