Incidental Mutation 'R8725:Ccdc18'
| ID |
673175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
068574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108328283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 661
(K661I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047677
AA Change: K661I
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: K661I
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
A |
14: 103,287,075 (GRCm39) |
W69R |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,792,743 (GRCm39) |
V1328E |
possibly damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,356 (GRCm39) |
H244R |
possibly damaging |
Het |
| Camk1 |
C |
A |
6: 113,315,109 (GRCm39) |
V199L |
probably damaging |
Het |
| Cdh16 |
C |
T |
8: 105,344,874 (GRCm39) |
V444I |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,243,715 (GRCm39) |
Y1580* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,362,663 (GRCm39) |
N339Y |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Deup1 |
T |
A |
9: 15,503,721 (GRCm39) |
D280V |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Evpl |
T |
A |
11: 116,113,019 (GRCm39) |
D1557V |
probably benign |
Het |
| Ext1 |
A |
G |
15: 53,208,065 (GRCm39) |
V232A |
possibly damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,105,726 (GRCm39) |
I514T |
possibly damaging |
Het |
| Gm14443 |
A |
T |
2: 175,010,693 (GRCm39) |
C584* |
probably null |
Het |
| Gm2696 |
T |
A |
10: 77,672,034 (GRCm39) |
C78S |
unknown |
Het |
| Gm4131 |
T |
C |
14: 62,701,300 (GRCm39) |
D276G |
possibly damaging |
Het |
| Gm5114 |
C |
T |
7: 39,060,657 (GRCm39) |
G64D |
probably benign |
Het |
| Gsx2 |
G |
T |
5: 75,236,755 (GRCm39) |
A112S |
probably benign |
Het |
| Hebp1 |
G |
T |
6: 135,114,919 (GRCm39) |
R181S |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,488,557 (GRCm39) |
G3616D |
probably damaging |
Het |
| Hemgn |
T |
G |
4: 46,394,638 (GRCm39) |
T491P |
probably benign |
Het |
| Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
| Itsn1 |
T |
C |
16: 91,636,721 (GRCm39) |
S723P |
unknown |
Het |
| Kat6a |
G |
A |
8: 23,398,293 (GRCm39) |
G287D |
probably damaging |
Het |
| Ktn1 |
T |
G |
14: 47,907,757 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
C |
A |
7: 140,778,246 (GRCm39) |
D79E |
possibly damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,544,303 (GRCm39) |
Q34* |
probably null |
Het |
| Mlxipl |
A |
G |
5: 135,157,483 (GRCm39) |
M340V |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,756,563 (GRCm39) |
T604A |
possibly damaging |
Het |
| Or13a26 |
G |
T |
7: 140,284,607 (GRCm39) |
V148L |
probably benign |
Het |
| Or1n1 |
T |
A |
2: 36,749,610 (GRCm39) |
Y250F |
probably damaging |
Het |
| Or4c122 |
A |
T |
2: 89,079,658 (GRCm39) |
S115T |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,710,884 (GRCm39) |
V1022G |
unknown |
Het |
| Pank1 |
T |
G |
19: 34,855,989 (GRCm39) |
H163P |
possibly damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,154,736 (GRCm39) |
Q485R |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,734 (GRCm39) |
S655R |
probably damaging |
Het |
| Pcdhgb1 |
T |
A |
18: 37,814,467 (GRCm39) |
C319* |
probably null |
Het |
| Pipox |
A |
T |
11: 77,774,804 (GRCm39) |
L93* |
probably null |
Het |
| Pkd1l1 |
A |
C |
11: 8,911,482 (GRCm39) |
V265G |
|
Het |
| Pld3 |
G |
A |
7: 27,239,079 (GRCm39) |
Q149* |
probably null |
Het |
| Pramel34 |
A |
T |
5: 93,784,316 (GRCm39) |
Y383N |
probably damaging |
Het |
| Prpf3 |
T |
A |
3: 95,748,021 (GRCm39) |
T415S |
possibly damaging |
Het |
| Rasgef1b |
G |
A |
5: 99,447,895 (GRCm39) |
T105I |
unknown |
Het |
| Rere |
G |
T |
4: 150,701,792 (GRCm39) |
E24* |
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Ric3 |
A |
T |
7: 108,637,924 (GRCm39) |
D277E |
probably benign |
Het |
| Rnf44 |
A |
T |
13: 54,831,826 (GRCm39) |
M82K |
probably damaging |
Het |
| Rsph14 |
T |
C |
10: 74,795,516 (GRCm39) |
N223S |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,415,396 (GRCm39) |
E234G |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,642,900 (GRCm39) |
N349S |
probably benign |
Het |
| Sema3d |
G |
A |
5: 12,555,822 (GRCm39) |
C183Y |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,402,912 (GRCm39) |
I74T |
|
Het |
| Slc39a12 |
T |
C |
2: 14,454,670 (GRCm39) |
S563P |
probably damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,315,454 (GRCm39) |
D526V |
probably damaging |
Het |
| Smpdl3b |
G |
T |
4: 132,461,060 (GRCm39) |
T339N |
probably damaging |
Het |
| Speer1e |
A |
T |
5: 11,236,408 (GRCm39) |
Q147L |
probably benign |
Het |
| Spi1 |
G |
A |
2: 90,945,516 (GRCm39) |
G199D |
probably damaging |
Het |
| Stx2 |
T |
C |
5: 129,070,564 (GRCm39) |
T118A |
probably damaging |
Het |
| Synj2 |
C |
A |
17: 6,088,015 (GRCm39) |
S1355R |
possibly damaging |
Het |
| Taf15 |
A |
G |
11: 83,389,964 (GRCm39) |
T245A |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,760,653 (GRCm39) |
A120V |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,370,934 (GRCm39) |
G198W |
probably damaging |
Het |
| Wdtc1 |
G |
T |
4: 133,041,114 (GRCm39) |
H46N |
probably damaging |
Het |
| Zbtb1 |
C |
A |
12: 76,432,646 (GRCm39) |
R211S |
probably damaging |
Het |
| Zc3h8 |
A |
G |
2: 128,775,207 (GRCm39) |
V151A |
probably benign |
Het |
| Zfp219 |
T |
C |
14: 52,244,899 (GRCm39) |
T499A |
possibly damaging |
Het |
| Zfp689 |
A |
G |
7: 127,047,940 (GRCm39) |
F31L |
probably damaging |
Het |
| Zfp879 |
C |
T |
11: 50,729,321 (GRCm39) |
D26N |
probably 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 |
|
|
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 |
|
|
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 |
|
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'- GCAGAAAGAGATCGGCATATAATT -3'
(R):5'- AGATACATGAATCTGCAATGCTTTT -3'
Sequencing Primer
(F):5'- GTTTAAAGTGTTCTCAGTGCT -3'
(R):5'- GATTCAAGGTGATGCTGT -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation