Incidental Mutation 'R7058:Ccdc18'
ID |
548048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc18
|
Ensembl Gene |
ENSMUSG00000056531 |
Gene Name |
coiled-coil domain containing 18 |
Synonyms |
1700021E15Rik, 4932411G06Rik |
MMRRC Submission |
045155-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7058 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108341664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 853
(V853A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
AlphaFold |
Q640L5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047677
AA Change: V853A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036507 Gene: ENSMUSG00000056531 AA Change: V853A
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (87/87) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,275,554 (GRCm39) |
I419T |
possibly damaging |
Het |
Afap1 |
T |
C |
5: 36,119,604 (GRCm39) |
V294A |
probably benign |
Het |
Amotl1 |
T |
A |
9: 14,486,532 (GRCm39) |
Q454L |
possibly damaging |
Het |
Ap2a1 |
T |
C |
7: 44,550,215 (GRCm39) |
S961G |
probably damaging |
Het |
Asxl3 |
A |
G |
18: 22,650,731 (GRCm39) |
K907E |
probably damaging |
Het |
BC028528 |
A |
T |
3: 95,792,323 (GRCm39) |
L137I |
possibly damaging |
Het |
Cand1 |
A |
T |
10: 119,047,659 (GRCm39) |
N610K |
probably benign |
Het |
Cat |
A |
G |
2: 103,304,698 (GRCm39) |
I109T |
probably benign |
Het |
Chd4 |
C |
A |
6: 125,085,405 (GRCm39) |
D805E |
possibly damaging |
Het |
Cnih1 |
A |
C |
14: 47,017,652 (GRCm39) |
F77V |
probably damaging |
Het |
Cntd1 |
A |
T |
11: 101,178,252 (GRCm39) |
I284F |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,755,759 (GRCm39) |
E177* |
probably null |
Het |
Cpxm2 |
T |
A |
7: 131,745,408 (GRCm39) |
D139V |
probably benign |
Het |
Cyp1a2 |
G |
T |
9: 57,584,525 (GRCm39) |
R510S |
probably damaging |
Het |
D2hgdh |
T |
C |
1: 93,763,096 (GRCm39) |
S294P |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,406,228 (GRCm39) |
C2335R |
probably benign |
Het |
Disc1 |
G |
T |
8: 125,977,724 (GRCm39) |
C719F |
probably damaging |
Het |
Dnah14 |
A |
C |
1: 181,525,614 (GRCm39) |
D2180A |
probably benign |
Het |
Dop1b |
G |
A |
16: 93,573,878 (GRCm39) |
R1582Q |
probably benign |
Het |
Dsg2 |
A |
T |
18: 20,725,332 (GRCm39) |
H481L |
probably benign |
Het |
Epha6 |
A |
G |
16: 59,503,013 (GRCm39) |
S965P |
probably damaging |
Het |
Esrrg |
G |
T |
1: 187,882,503 (GRCm39) |
L253F |
probably damaging |
Het |
Exoc6b |
T |
C |
6: 84,831,704 (GRCm39) |
K438R |
probably damaging |
Het |
Fam98a |
C |
A |
17: 75,845,384 (GRCm39) |
R454L |
unknown |
Het |
Fam98c |
A |
T |
7: 28,855,308 (GRCm39) |
|
probably null |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
Galnt13 |
A |
G |
2: 54,988,587 (GRCm39) |
T470A |
probably damaging |
Het |
Ggt7 |
A |
T |
2: 155,345,015 (GRCm39) |
|
probably null |
Het |
Golim4 |
T |
C |
3: 75,785,957 (GRCm39) |
E606G |
probably damaging |
Het |
Gpd2 |
G |
A |
2: 57,197,112 (GRCm39) |
|
probably null |
Het |
Grin2b |
T |
C |
6: 135,757,304 (GRCm39) |
M386V |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,059,306 (GRCm39) |
S239T |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,649,641 (GRCm39) |
T615I |
probably benign |
Het |
Hook2 |
G |
A |
8: 85,724,040 (GRCm39) |
E446K |
possibly damaging |
Het |
Hsd3b1 |
C |
T |
3: 98,765,131 (GRCm39) |
|
probably null |
Het |
Igsf9b |
A |
G |
9: 27,234,150 (GRCm39) |
Y421C |
probably damaging |
Het |
Il21 |
A |
G |
3: 37,286,629 (GRCm39) |
L29P |
probably damaging |
Het |
Ildr1 |
A |
G |
16: 36,542,730 (GRCm39) |
S421G |
probably benign |
Het |
Kat2b |
C |
A |
17: 53,972,894 (GRCm39) |
T736K |
probably benign |
Het |
Kcng1 |
A |
G |
2: 168,104,529 (GRCm39) |
V439A |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,833,106 (GRCm39) |
|
probably null |
Het |
Lat |
A |
G |
7: 125,968,318 (GRCm39) |
|
probably null |
Het |
Mastl |
T |
A |
2: 23,023,425 (GRCm39) |
K433* |
probably null |
Het |
Mettl2 |
A |
G |
11: 105,019,719 (GRCm39) |
R119G |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,231,021 (GRCm39) |
P1223L |
possibly damaging |
Het |
Mkrn2os |
G |
T |
6: 115,563,635 (GRCm39) |
D133E |
probably benign |
Het |
Mslnl |
A |
G |
17: 25,962,186 (GRCm39) |
T195A |
probably benign |
Het |
Muc16 |
T |
G |
9: 18,551,051 (GRCm39) |
T5081P |
probably benign |
Het |
Mylpf |
G |
C |
7: 126,813,139 (GRCm39) |
R110P |
probably damaging |
Het |
Myo19 |
G |
T |
11: 84,798,194 (GRCm39) |
C738F |
possibly damaging |
Het |
Nat8f4 |
T |
A |
6: 85,878,271 (GRCm39) |
N84I |
possibly damaging |
Het |
Nol8 |
C |
T |
13: 49,829,862 (GRCm39) |
R1104C |
probably damaging |
Het |
Notch1 |
A |
T |
2: 26,353,830 (GRCm39) |
D1932E |
probably benign |
Het |
Nsun3 |
A |
T |
16: 62,596,663 (GRCm39) |
C152S |
possibly damaging |
Het |
Opcml |
G |
A |
9: 28,586,507 (GRCm39) |
W75* |
probably null |
Het |
Or14j10 |
A |
G |
17: 37,934,597 (GRCm39) |
F310L |
probably benign |
Het |
Pcdh7 |
G |
A |
5: 57,879,582 (GRCm39) |
E1046K |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,536,334 (GRCm39) |
V776D |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,727,103 (GRCm39) |
L551S |
probably damaging |
Het |
Plaa |
G |
A |
4: 94,458,060 (GRCm39) |
Q637* |
probably null |
Het |
Plekhh1 |
A |
T |
12: 79,122,204 (GRCm39) |
E1099V |
probably damaging |
Het |
Ppp4r1 |
A |
T |
17: 66,136,495 (GRCm39) |
N551Y |
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,320,382 (GRCm39) |
V554A |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,357,150 (GRCm39) |
|
probably null |
Het |
Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,034,521 (GRCm39) |
T1119A |
probably damaging |
Het |
Rims2 |
A |
G |
15: 39,449,044 (GRCm39) |
D1194G |
probably damaging |
Het |
Scarb1 |
A |
T |
5: 125,374,294 (GRCm39) |
C280S |
probably damaging |
Het |
Sde2 |
T |
C |
1: 180,693,827 (GRCm39) |
F439S |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,092,532 (GRCm39) |
I304T |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,449,896 (GRCm39) |
E1106G |
probably benign |
Het |
Sis |
T |
G |
3: 72,810,940 (GRCm39) |
S1694R |
probably damaging |
Het |
Smad9 |
T |
A |
3: 54,693,614 (GRCm39) |
F181Y |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,797,502 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,425,516 (GRCm39) |
Y46H |
probably damaging |
Het |
Tdrd12 |
A |
G |
7: 35,177,534 (GRCm39) |
M940T |
unknown |
Het |
Tmem44 |
G |
T |
16: 30,366,213 (GRCm39) |
T71K |
possibly damaging |
Het |
Tmf1 |
T |
A |
6: 97,133,911 (GRCm39) |
E1009V |
probably damaging |
Het |
Ttc39a |
C |
T |
4: 109,288,763 (GRCm39) |
R288W |
probably damaging |
Het |
Ttc9c |
G |
A |
19: 8,796,191 (GRCm39) |
|
probably benign |
Het |
Usp28 |
T |
A |
9: 48,950,456 (GRCm39) |
Y634N |
probably damaging |
Het |
Vmn1r211 |
C |
T |
13: 23,036,063 (GRCm39) |
M201I |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,349,722 (GRCm39) |
Q620L |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,831,110 (GRCm39) |
L1580P |
probably benign |
Het |
Vrk3 |
C |
A |
7: 44,417,890 (GRCm39) |
F308L |
probably damaging |
Het |
Zdbf2 |
T |
A |
1: 63,346,563 (GRCm39) |
H1647Q |
possibly damaging |
Het |
Zfp984 |
A |
T |
4: 147,840,002 (GRCm39) |
M283K |
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 |
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 |
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'- TTTCACCATACCAAAGCTTACCTTG -3'
(R):5'- TGCTACAGGAACTTAGGCTATG -3'
Sequencing Primer
(F):5'- ACAGGTATCAAAGCAAGAAC -3'
(R):5'- CAATACATCATTGAAAGGGCT -3'
|
Posted On |
2019-05-13 |