Incidental Mutation 'R6128:Ccdc18'
| ID |
487502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
044275-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6128 (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 G
at 108311625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 444
(I444V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
[ENSMUST00000197718]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047677
AA Change: I444V
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: I444V
| 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 |
noncoding transcript
Transcript: ENSMUST00000195973
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197718
|
| SMART Domains |
Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
109 |
140 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| A430033K04Rik |
A |
G |
5: 138,646,038 (GRCm39) |
H641R |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Asah1 |
C |
T |
8: 41,807,092 (GRCm39) |
V111M |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,526,734 (GRCm39) |
L611P |
probably damaging |
Het |
| Atl2 |
C |
A |
17: 80,172,470 (GRCm39) |
|
probably null |
Het |
| Bhlhe22 |
A |
T |
3: 18,109,987 (GRCm39) |
S346C |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,776,313 (GRCm39) |
|
probably null |
Het |
| Bptf |
G |
T |
11: 106,965,516 (GRCm39) |
A1163D |
possibly damaging |
Het |
| Bub1b |
T |
A |
2: 118,448,293 (GRCm39) |
C382S |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,197,177 (GRCm39) |
Y158* |
probably null |
Het |
| Ccdc175 |
A |
T |
12: 72,175,933 (GRCm39) |
I473K |
probably benign |
Het |
| Cep131 |
T |
A |
11: 119,956,801 (GRCm39) |
I880F |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,655,428 (GRCm39) |
I117N |
probably benign |
Het |
| Clk2 |
C |
T |
3: 89,081,531 (GRCm39) |
T289M |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,122,123 (GRCm39) |
D672V |
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,962,588 (GRCm39) |
I73N |
probably damaging |
Het |
| Cyp2d12 |
C |
A |
15: 82,443,166 (GRCm39) |
D358E |
probably benign |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,788 (GRCm39) |
S142P |
possibly damaging |
Het |
| Daw1 |
T |
A |
1: 83,183,647 (GRCm39) |
C232* |
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,353,835 (GRCm39) |
K195R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
A |
G |
19: 4,972,420 (GRCm39) |
V168A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,001,563 (GRCm39) |
V459A |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,243,493 (GRCm39) |
N38K |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,821 (GRCm39) |
|
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,006,740 (GRCm39) |
E117G |
possibly damaging |
Het |
| Gbp4 |
A |
C |
5: 105,283,030 (GRCm39) |
V80G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,754,335 (GRCm39) |
D179V |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,002,086 (GRCm39) |
V314E |
probably null |
Het |
| Gzmf |
G |
T |
14: 56,443,443 (GRCm39) |
Y178* |
probably null |
Het |
| Hira |
C |
T |
16: 18,751,727 (GRCm39) |
P509S |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,454,823 (GRCm39) |
N134S |
probably benign |
Het |
| Igfbp2 |
T |
A |
1: 72,863,958 (GRCm39) |
C74S |
probably damaging |
Het |
| Il24 |
A |
G |
1: 130,813,435 (GRCm39) |
L54P |
probably damaging |
Het |
| Ints10 |
T |
C |
8: 69,274,904 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
A |
G |
1: 135,318,311 (GRCm39) |
C700R |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 34,033,255 (GRCm39) |
Q469L |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 40,750,667 (GRCm39) |
I2966L |
probably benign |
Het |
| Lta |
C |
A |
17: 35,422,817 (GRCm39) |
V169L |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,933,964 (GRCm39) |
V3554A |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,392 (GRCm39) |
|
probably benign |
Het |
| Myorg |
T |
A |
4: 41,498,445 (GRCm39) |
N395I |
probably damaging |
Het |
| Or10d1 |
C |
G |
9: 39,484,549 (GRCm39) |
R2T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,968,954 (GRCm39) |
C176* |
probably null |
Het |
| Or8c14-ps1 |
T |
C |
9: 38,101,299 (GRCm39) |
S93P |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,202,400 (GRCm39) |
|
probably null |
Het |
| Phf21a |
G |
T |
2: 92,181,953 (GRCm39) |
|
probably null |
Het |
| Pick1 |
T |
A |
15: 79,123,896 (GRCm39) |
M89K |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,946,152 (GRCm39) |
D558G |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,661 (GRCm39) |
D172G |
probably benign |
Het |
| Polr2a |
A |
C |
11: 69,627,803 (GRCm39) |
V1368G |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,109 (GRCm39) |
|
probably null |
Het |
| Pou2f1 |
T |
C |
1: 165,703,056 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,446,018 (GRCm39) |
V284A |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,784,639 (GRCm39) |
|
probably null |
Het |
| Scamp1 |
A |
C |
13: 94,344,735 (GRCm39) |
L202R |
possibly damaging |
Het |
| Snx25 |
C |
T |
8: 46,558,240 (GRCm39) |
V110I |
probably benign |
Het |
| Spata31e2 |
G |
A |
1: 26,724,506 (GRCm39) |
P225S |
probably benign |
Het |
| Susd6 |
T |
A |
12: 80,915,388 (GRCm39) |
H124Q |
possibly damaging |
Het |
| Tarm1 |
T |
C |
7: 3,537,720 (GRCm39) |
T248A |
probably benign |
Het |
| Tc2n |
A |
G |
12: 101,675,748 (GRCm39) |
M1T |
probably null |
Het |
| Tcerg1 |
C |
A |
18: 42,644,563 (GRCm39) |
|
probably null |
Het |
| Ticrr |
C |
A |
7: 79,343,716 (GRCm39) |
P1194T |
probably damaging |
Het |
| Trim31 |
T |
G |
17: 37,220,491 (GRCm39) |
V469G |
probably benign |
Het |
| Vcp |
T |
C |
4: 42,980,941 (GRCm39) |
E723G |
probably benign |
Het |
| Vmn1r177 |
C |
A |
7: 23,565,267 (GRCm39) |
S203I |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,268 (GRCm39) |
S203C |
probably damaging |
Het |
| Vmn1r210 |
A |
T |
13: 23,012,277 (GRCm39) |
L3* |
probably null |
Het |
| Wdr27 |
T |
A |
17: 15,152,796 (GRCm39) |
R104* |
probably null |
Het |
| Wnk1 |
A |
C |
6: 119,940,747 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
A |
G |
5: 138,453,281 (GRCm39) |
E88G |
possibly damaging |
Het |
| Zfp708 |
A |
T |
13: 67,222,965 (GRCm39) |
L22Q |
probably damaging |
Het |
| Zfp788 |
T |
C |
7: 41,299,785 (GRCm39) |
F787S |
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 |
|
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 |
|
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'- GAGTGTTAAGAAGAAGACAGTTGTAT -3'
(R):5'- AACCAAATTTAACTTGGGTAGTAAGT -3'
Sequencing Primer
(F):5'- TTGTAAGCACCAGAGGAG -3'
(R):5'- AGAGTACTGACTGCTCTTCCAGAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation