Incidental Mutation 'RF013:Ccdc18'
| ID |
603326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF013 (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 108368582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1235
(N1235D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047677
AA Change: N1235D
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: N1235D
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
| Adamts9 |
A |
G |
6: 92,920,126 (GRCm39) |
V4A |
possibly damaging |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,260 (GRCm39) |
|
probably benign |
Het |
| Alk |
A |
G |
17: 72,202,931 (GRCm39) |
Y1135H |
probably damaging |
Het |
| Ankhd1 |
CGGCGG |
CGGCGGAGGCGG |
18: 36,693,979 (GRCm39) |
|
probably benign |
Het |
| Ano3 |
A |
C |
2: 110,527,381 (GRCm39) |
L609R |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,771,660 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
TTAT |
TTATTATTATTATTAGTAT |
3: 37,104,906 (GRCm39) |
|
probably benign |
Het |
| Card6 |
T |
C |
15: 5,129,624 (GRCm39) |
I591V |
probably benign |
Het |
| Ccdc121rt2 |
T |
A |
5: 112,597,937 (GRCm39) |
N161K |
probably benign |
Het |
| Cd109 |
TTAT |
TTATTTATTTATCTAT |
9: 78,619,813 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
CCT |
CCTGCT |
17: 47,047,670 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
GCAGTC |
GCAGTCTCCAGTC |
9: 105,755,796 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GACACACTGCCCAGGGA |
GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA |
9: 86,922,485 (GRCm39) |
|
probably benign |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,561 (GRCm39) |
M257K |
possibly damaging |
Het |
| Dbf4 |
A |
T |
5: 8,447,985 (GRCm39) |
H408Q |
possibly damaging |
Het |
| Defb22 |
TTGCGGCA |
TTGCGGCAGAGCTGGCCTGTGCGGCA |
2: 152,327,751 (GRCm39) |
|
probably benign |
Het |
| Ercc6l2 |
A |
T |
13: 64,000,831 (GRCm39) |
T417S |
probably benign |
Het |
| Exd2 |
AGCCACAG |
A |
12: 80,522,706 (GRCm39) |
|
probably null |
Het |
| Fam171b |
GC |
GCAGCATC |
2: 83,643,239 (GRCm39) |
|
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,793,960 (GRCm39) |
L112Q |
probably damaging |
Het |
| Flywch1 |
GTG |
GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG |
17: 23,981,149 (GRCm39) |
|
probably null |
Het |
| Gabre |
TCAGGCTCAGGCT |
TCAGGCTCAGGCTCAGGCT |
X: 71,314,022 (GRCm39) |
|
probably benign |
Het |
| Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA |
7: 44,149,944 (GRCm39) |
|
probably null |
Het |
| Gm4884 |
C |
A |
7: 40,690,233 (GRCm39) |
P43Q |
probably damaging |
Het |
| Grm8 |
A |
G |
6: 27,363,779 (GRCm39) |
W579R |
probably damaging |
Het |
| Hsdl2 |
AG |
AGCAGCAGCCACAGCTGCCG |
4: 59,610,657 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CTGCTGCTGCTGCTGT |
C |
3: 92,479,650 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
T |
C |
11: 102,803,192 (GRCm39) |
D506G |
probably benign |
Het |
| Krtap28-10 |
AGCCAC |
AGCCACGGCCAC |
1: 83,019,856 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
GCCACAGCCACCACA |
GCCACAGCCACCACATCCACAGCCACCACA |
1: 83,019,995 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
C |
A |
17: 68,088,057 (GRCm39) |
S1558R |
|
Het |
| Lcmt1 |
C |
CCGCGGGGCTT |
7: 122,969,059 (GRCm39) |
|
probably null |
Het |
| Lmna |
A |
G |
3: 88,391,361 (GRCm39) |
V494A |
probably benign |
Het |
| Mapk6 |
CCAC |
CCACCTCAC |
9: 75,295,542 (GRCm39) |
|
probably null |
Het |
| Mboat7 |
T |
A |
7: 3,694,856 (GRCm39) |
H52L |
probably damaging |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,387 (GRCm39) |
|
probably benign |
Het |
| Morc2a |
T |
A |
11: 3,626,191 (GRCm39) |
M225K |
probably benign |
Het |
| Mpdz |
G |
A |
4: 81,211,829 (GRCm39) |
A1566V |
possibly damaging |
Het |
| Mpi |
T |
C |
9: 57,455,924 (GRCm39) |
D186G |
probably benign |
Het |
| Mtmr12 |
C |
A |
15: 12,261,984 (GRCm39) |
N386K |
probably damaging |
Het |
| Myh3 |
ATTAC |
ATTACTTAC |
11: 66,977,182 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
A |
15: 25,799,565 (GRCm39) |
M1376K |
probably damaging |
Het |
| Nbas |
C |
T |
12: 13,329,409 (GRCm39) |
T118I |
possibly damaging |
Het |
| Nedd4l |
C |
T |
18: 65,342,751 (GRCm39) |
R755C |
probably damaging |
Het |
| Nefh |
GACTTGGCCTCACCTGGG |
GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG |
11: 4,891,032 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,648,987 (GRCm39) |
L906P |
probably damaging |
Het |
| Or6s1 |
G |
A |
14: 51,308,469 (GRCm39) |
A127V |
probably damaging |
Het |
| Or7h8 |
T |
C |
9: 20,124,190 (GRCm39) |
S182P |
probably benign |
Het |
| Otop2 |
G |
T |
11: 115,214,492 (GRCm39) |
R83L |
probably benign |
Het |
| Pmm1 |
T |
A |
15: 81,842,014 (GRCm39) |
Q62L |
probably damaging |
Het |
| Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,301,514 (GRCm39) |
L206* |
probably null |
Het |
| Rassf6 |
TC |
TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC |
5: 90,756,800 (GRCm39) |
|
probably benign |
Het |
| Rps19 |
A |
AGAAAAT |
7: 24,588,605 (GRCm39) |
|
probably benign |
Het |
| Rsrp1 |
T |
A |
4: 134,651,266 (GRCm39) |
V10E |
unknown |
Het |
| Sh2d6 |
C |
T |
6: 72,493,371 (GRCm39) |
|
probably null |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Slc6a15 |
T |
A |
10: 103,236,077 (GRCm39) |
V264D |
probably damaging |
Het |
| Snapc5 |
ATGGAAGAAGAGG |
A |
9: 64,089,493 (GRCm39) |
|
probably benign |
Het |
| Sost |
A |
T |
11: 101,854,958 (GRCm39) |
I117N |
probably damaging |
Het |
| Spmip5 |
A |
G |
19: 58,777,726 (GRCm39) |
F28S |
probably damaging |
Het |
| Tbc1d22a |
AGGTGTGTG |
A |
15: 86,183,975 (GRCm39) |
|
probably null |
Het |
| Tcaf1 |
C |
T |
6: 42,656,107 (GRCm39) |
V290I |
probably benign |
Het |
| Tcof1 |
GCA |
GCACCA |
18: 60,968,815 (GRCm39) |
|
probably benign |
Het |
| Tex55 |
T |
C |
16: 38,648,363 (GRCm39) |
T249A |
probably benign |
Het |
| Tgfbr1 |
A |
G |
4: 47,353,354 (GRCm39) |
I15V |
unknown |
Het |
| Tmem241 |
A |
T |
18: 12,116,618 (GRCm39) |
L288Q |
probably damaging |
Het |
| Tnfrsf13b |
T |
G |
11: 61,032,270 (GRCm39) |
V100G |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,059,960 (GRCm39) |
S809P |
probably damaging |
Het |
| Tubb4a |
C |
G |
17: 57,394,464 (GRCm39) |
G17A |
possibly damaging |
Het |
| Txndc16 |
A |
G |
14: 45,406,795 (GRCm39) |
V220A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,389,982 (GRCm39) |
Q4830L |
unknown |
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 |
|
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 |
|
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'- CGTATTTCTCCAGTTGTCTCTAAAG -3'
(R):5'- TGCTTCATTTGCAGCTTCAATG -3'
Sequencing Primer
(F):5'- GTGTGAAATCAGATGTTTACAG -3'
(R):5'- GCAGCTTCAATGACTTCATTCCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation