Incidental Mutation 'R7382:Ccdc18'
| ID |
572790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
045464-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 108286873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 136
(Q136K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
[ENSMUST00000197718]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047677
AA Change: Q136K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: Q136K
| 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 |
probably damaging
Transcript: ENSMUST00000197718
AA Change: Q136K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531
AA Change: Q136K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
109 |
140 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,103 (GRCm39) |
H404Q |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,651,037 (GRCm39) |
M53K |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,570,020 (GRCm39) |
T82S |
possibly damaging |
Het |
| Adgrl2 |
T |
G |
3: 148,522,919 (GRCm39) |
Q435P |
|
Het |
| Ahr |
A |
T |
12: 35,554,514 (GRCm39) |
M535K |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,188,954 (GRCm39) |
I2123V |
probably benign |
Het |
| Ankrd2 |
G |
T |
19: 42,033,411 (GRCm39) |
G318C |
|
Het |
| Ap4e1 |
T |
A |
2: 126,850,822 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
G |
A |
14: 59,892,043 (GRCm39) |
P1102S |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,216,048 (GRCm39) |
S105F |
probably damaging |
Het |
| Cad |
C |
A |
5: 31,233,173 (GRCm39) |
P1872T |
probably benign |
Het |
| Catsperg1 |
A |
G |
7: 28,904,269 (GRCm39) |
F251L |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,288,271 (GRCm39) |
|
probably null |
Het |
| Cd209d |
A |
T |
8: 3,927,965 (GRCm39) |
Y46* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,208,262 (GRCm39) |
M728K |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,944 (GRCm39) |
D866G |
probably damaging |
Het |
| Cenpl |
A |
G |
1: 160,906,031 (GRCm39) |
H135R |
probably benign |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,681,451 (GRCm39) |
L63* |
probably null |
Het |
| Cpeb4 |
A |
G |
11: 31,822,828 (GRCm39) |
T181A |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,169 (GRCm39) |
E830G |
probably damaging |
Het |
| Endou |
T |
A |
15: 97,616,807 (GRCm39) |
K239* |
probably null |
Het |
| Ezh2 |
T |
C |
6: 47,528,770 (GRCm39) |
N263S |
possibly damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,697,314 (GRCm39) |
D351G |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,862,669 (GRCm39) |
Y1720* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,491,229 (GRCm39) |
|
probably null |
Het |
| Frmpd1 |
T |
A |
4: 45,278,880 (GRCm39) |
V535E |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,382 (GRCm39) |
V139A |
probably benign |
Het |
| Gpr180 |
T |
G |
14: 118,400,035 (GRCm39) |
V401G |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,110,936 (GRCm39) |
R971S |
possibly damaging |
Het |
| Igkv8-34 |
C |
A |
6: 70,021,103 (GRCm39) |
A120S |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,645,370 (GRCm39) |
H219Q |
probably benign |
Het |
| Itprid1 |
G |
T |
6: 55,955,404 (GRCm39) |
G1004V |
probably benign |
Het |
| Kremen2 |
T |
C |
17: 23,962,526 (GRCm39) |
|
probably null |
Het |
| Mael |
G |
A |
1: 166,029,167 (GRCm39) |
P419S |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,121,266 (GRCm39) |
T102A |
probably damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,845,916 (GRCm39) |
I119N |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,685 (GRCm39) |
V1877A |
unknown |
Het |
| Myo5c |
A |
C |
9: 75,211,332 (GRCm39) |
S1733R |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,265,176 (GRCm39) |
V248A |
probably benign |
Het |
| Npc1 |
A |
T |
18: 12,334,763 (GRCm39) |
I663N |
probably damaging |
Het |
| Olig3 |
T |
A |
10: 19,232,413 (GRCm39) |
S13T |
unknown |
Het |
| Or1j17 |
G |
T |
2: 36,578,046 (GRCm39) |
E11* |
probably null |
Het |
| Or8k39 |
T |
C |
2: 86,563,129 (GRCm39) |
I276V |
probably benign |
Het |
| Piezo2 |
A |
C |
18: 63,150,590 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
T |
8: 117,781,610 (GRCm39) |
L812M |
possibly damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,759 (GRCm39) |
T387I |
probably damaging |
Het |
| Ppara |
C |
T |
15: 85,671,429 (GRCm39) |
S110L |
probably damaging |
Het |
| Ranbp9 |
C |
T |
13: 43,578,590 (GRCm39) |
R161Q |
probably damaging |
Het |
| Rufy2 |
G |
T |
10: 62,833,748 (GRCm39) |
R270L |
probably benign |
Het |
| Septin12 |
C |
T |
16: 4,806,346 (GRCm39) |
E272K |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,182 (GRCm39) |
E128G |
possibly damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,007,093 (GRCm39) |
S21N |
probably benign |
Het |
| Sil1 |
A |
T |
18: 35,458,466 (GRCm39) |
D176E |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,295,621 (GRCm39) |
Y82N |
probably damaging |
Het |
| Slc41a1 |
C |
T |
1: 131,774,370 (GRCm39) |
P479L |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,570,229 (GRCm39) |
K744R |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,688,180 (GRCm39) |
D495G |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,695,494 (GRCm39) |
S156P |
probably benign |
Het |
| Syt3 |
A |
T |
7: 44,042,170 (GRCm39) |
D343V |
probably damaging |
Het |
| Tbl3 |
G |
T |
17: 24,924,265 (GRCm39) |
T164N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,977,326 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
T |
A |
19: 55,915,172 (GRCm39) |
W461R |
unknown |
Het |
| Tmprss11c |
A |
T |
5: 86,379,723 (GRCm39) |
F395Y |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,932,280 (GRCm39) |
Y711* |
probably null |
Het |
| Tnpo2 |
G |
A |
8: 85,776,748 (GRCm39) |
R485H |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,612,374 (GRCm39) |
K1216E |
probably damaging |
Het |
| Ube2q2 |
A |
C |
9: 55,070,298 (GRCm39) |
D80A |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,389,379 (GRCm39) |
K227* |
probably null |
Het |
| Uhrf2 |
T |
C |
19: 30,048,788 (GRCm39) |
Y265H |
possibly damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,756 (GRCm39) |
Y247S |
probably damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,174,276 (GRCm39) |
C525R |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,596,849 (GRCm39) |
T3090A |
probably damaging |
Het |
| Whrn |
T |
C |
4: 63,336,573 (GRCm39) |
K674R |
probably benign |
Het |
| Zfp202 |
G |
T |
9: 40,122,801 (GRCm39) |
R521I |
probably damaging |
Het |
| Zfp433 |
T |
C |
10: 81,556,659 (GRCm39) |
V387A |
probably benign |
Het |
| Zpld1 |
T |
C |
16: 55,067,046 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- CCCTAATGCTCATTGTCCTGAGTTG -3'
(R):5'- GCAAGTGCTCTCTAACATATAAGC -3'
Sequencing Primer
(F):5'- GGCAATTACTGCTATTTTCTAT -3'
(R):5'- TCTGGTGCCTCTAAAGACAGCTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation