Incidental Mutation 'R7009:Ccdc18'
| ID |
544892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
045111-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7009 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 108321728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047677
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
| 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: 99.2%
|
| Validation Efficiency |
99% (82/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
G |
T |
13: 59,838,624 (GRCm39) |
D69E |
possibly damaging |
Het |
| Abat |
A |
C |
16: 8,420,231 (GRCm39) |
M177L |
probably benign |
Het |
| Acadvl |
A |
G |
11: 69,905,617 (GRCm39) |
|
probably null |
Het |
| Adam5 |
T |
C |
8: 25,296,454 (GRCm39) |
N331S |
probably benign |
Het |
| Ager |
A |
G |
17: 34,819,710 (GRCm39) |
E372G |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,386,991 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Apoa4 |
A |
T |
9: 46,154,178 (GRCm39) |
I260F |
possibly damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,157,272 (GRCm39) |
I90F |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,566,422 (GRCm39) |
Q1131L |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,691,322 (GRCm39) |
M1K |
probably null |
Het |
| Ccdc42 |
T |
C |
11: 68,485,442 (GRCm39) |
F267S |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,173,085 (GRCm39) |
Y1700F |
probably damaging |
Het |
| Cenpe |
A |
T |
3: 134,940,962 (GRCm39) |
S704C |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,940,963 (GRCm39) |
S704N |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,932,379 (GRCm39) |
D193V |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,710,881 (GRCm39) |
S2727T |
unknown |
Het |
| Clu |
T |
A |
14: 66,209,281 (GRCm39) |
V113D |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,161,954 (GRCm39) |
I98V |
probably benign |
Het |
| Copa |
G |
T |
1: 171,918,567 (GRCm39) |
R97L |
probably damaging |
Het |
| Epb41l1 |
C |
A |
2: 156,376,603 (GRCm39) |
|
probably null |
Het |
| Etnk1 |
T |
A |
6: 143,148,880 (GRCm39) |
|
probably null |
Het |
| Fnip1 |
A |
T |
11: 54,393,761 (GRCm39) |
K732N |
probably damaging |
Het |
| G6pd2 |
A |
G |
5: 61,966,234 (GRCm39) |
E3G |
probably benign |
Het |
| Gal3st2 |
A |
G |
1: 93,801,481 (GRCm39) |
T95A |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,590,829 (GRCm39) |
S948P |
probably damaging |
Het |
| Ggps1 |
A |
T |
13: 14,228,750 (GRCm39) |
Y8* |
probably null |
Het |
| Gria2 |
T |
C |
3: 80,614,279 (GRCm39) |
E587G |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,840,145 (GRCm39) |
E324G |
probably benign |
Het |
| Il16 |
G |
A |
7: 83,295,596 (GRCm39) |
T493I |
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,754,217 (GRCm39) |
T652A |
possibly damaging |
Het |
| Ism1 |
A |
G |
2: 139,599,199 (GRCm39) |
I391V |
probably damaging |
Het |
| Katnb1 |
A |
G |
8: 95,825,012 (GRCm39) |
D598G |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,647,441 (GRCm39) |
S880G |
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,102,147 (GRCm39) |
N96S |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,839,876 (GRCm39) |
D373V |
probably damaging |
Het |
| Lamtor4 |
G |
A |
5: 138,257,374 (GRCm39) |
R92Q |
probably benign |
Het |
| Lce1d |
C |
A |
3: 92,593,353 (GRCm39) |
C20F |
unknown |
Het |
| Limk1 |
T |
C |
5: 134,701,553 (GRCm39) |
T117A |
probably benign |
Het |
| Medag |
A |
T |
5: 149,350,708 (GRCm39) |
K61M |
probably benign |
Het |
| Mkrn3 |
T |
C |
7: 62,069,366 (GRCm39) |
M142V |
probably benign |
Het |
| Mob3c |
G |
A |
4: 115,688,779 (GRCm39) |
R104H |
probably benign |
Het |
| Morc1 |
G |
T |
16: 48,447,433 (GRCm39) |
R903L |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,189,749 (GRCm39) |
E1099G |
probably damaging |
Het |
| Nphp3 |
T |
G |
9: 103,893,315 (GRCm39) |
C434G |
probably null |
Het |
| Npr3 |
C |
T |
15: 11,905,334 (GRCm39) |
C131Y |
probably damaging |
Het |
| Oacyl |
C |
A |
18: 65,855,609 (GRCm39) |
Y112* |
probably null |
Het |
| Oprl1 |
A |
G |
2: 181,360,174 (GRCm39) |
T77A |
probably damaging |
Het |
| Osgep |
A |
G |
14: 51,162,165 (GRCm39) |
V24A |
probably damaging |
Het |
| Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,101,581 (GRCm39) |
L922P |
probably benign |
Het |
| Pgap4 |
A |
T |
4: 49,586,325 (GRCm39) |
M281K |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,605,705 (GRCm39) |
V375A |
probably damaging |
Het |
| Pip5k1b |
C |
T |
19: 24,337,299 (GRCm39) |
|
probably null |
Het |
| Psmd3 |
G |
A |
11: 98,573,592 (GRCm39) |
D13N |
probably benign |
Het |
| Ptprc |
G |
A |
1: 137,992,291 (GRCm39) |
H1140Y |
probably damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,063,064 (GRCm39) |
H291L |
probably damaging |
Het |
| Rasa4 |
T |
A |
5: 136,130,217 (GRCm39) |
D324E |
probably damaging |
Het |
| Rilpl1 |
T |
A |
5: 124,641,755 (GRCm39) |
|
silent |
Het |
| Rin2 |
A |
C |
2: 145,725,395 (GRCm39) |
D794A |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,045 (GRCm39) |
I522M |
probably damaging |
Het |
| Rnf31 |
T |
C |
14: 55,830,008 (GRCm39) |
Y143H |
probably benign |
Het |
| Rp1 |
T |
G |
1: 4,112,291 (GRCm39) |
I1187L |
unknown |
Het |
| Rps6ka5 |
G |
A |
12: 100,585,796 (GRCm39) |
H166Y |
probably damaging |
Het |
| Rrm1 |
T |
C |
7: 102,109,541 (GRCm39) |
V455A |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Scn5a |
T |
G |
9: 119,314,996 (GRCm39) |
E1904A |
probably damaging |
Het |
| Sec16a |
G |
T |
2: 26,326,014 (GRCm39) |
S240* |
probably null |
Het |
| Slc22a8 |
C |
T |
19: 8,582,781 (GRCm39) |
T154I |
probably benign |
Het |
| Slc25a16 |
T |
A |
10: 62,773,233 (GRCm39) |
V156E |
possibly damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,758,618 (GRCm39) |
S2T |
probably benign |
Het |
| Srd5a3 |
G |
A |
5: 76,297,713 (GRCm39) |
V48I |
probably benign |
Het |
| Srebf1 |
A |
C |
11: 60,091,352 (GRCm39) |
H1025Q |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,527,672 (GRCm39) |
K1310E |
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,246,381 (GRCm39) |
V848A |
possibly damaging |
Het |
| Tanc2 |
A |
T |
11: 105,731,525 (GRCm39) |
T434S |
possibly damaging |
Het |
| Tcf20 |
G |
A |
15: 82,738,883 (GRCm39) |
T856I |
probably benign |
Het |
| Tcf7l2 |
T |
C |
19: 55,883,165 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,839,195 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
T |
A |
6: 115,524,933 (GRCm39) |
M44K |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,787,139 (GRCm39) |
C715* |
probably null |
Het |
| Vmn2r102 |
G |
A |
17: 19,914,456 (GRCm39) |
V674I |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 67,665,173 (GRCm39) |
S430P |
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 |
|
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'- GAGGAGCAATTTGATTTTAAGATGC -3'
(R):5'- TCATGGATGAATGCGCCTC -3'
Sequencing Primer
(F):5'- GCATGTCAGTACTTTTAAAGTTGTG -3'
(R):5'- GGATGAATGCGCCTCAATATATAAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation