Incidental Mutation 'R7493:Ccdc18'
| ID |
580908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc18
|
| Ensembl Gene |
ENSMUSG00000056531 |
| Gene Name |
coiled-coil domain containing 18 |
| Synonyms |
1700021E15Rik, 4932411G06Rik |
| MMRRC Submission |
045567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
108280741-108381494 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 108354483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 1074
(L1074*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047677]
|
| AlphaFold |
Q640L5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047677
AA Change: L1074*
|
| SMART Domains |
Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: L1074*
| 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 |
|
| Meta Mutation Damage Score |
0.9713 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,385,257 (GRCm39) |
L236P |
possibly damaging |
Het |
| Abca7 |
T |
A |
10: 79,837,896 (GRCm39) |
D488E |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,423 (GRCm39) |
K296E |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,163,345 (GRCm39) |
D122G |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,290,774 (GRCm39) |
E225V |
|
Het |
| Bpifb2 |
A |
G |
2: 153,731,397 (GRCm39) |
M258V |
possibly damaging |
Het |
| Brd2 |
G |
A |
17: 34,341,231 (GRCm39) |
|
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,987,005 (GRCm39) |
V1700F |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,076,433 (GRCm39) |
I797V |
|
Het |
| Ccdc148 |
T |
G |
2: 58,899,160 (GRCm39) |
E71A |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,198,772 (GRCm39) |
D215G |
probably damaging |
Het |
| Cers6 |
T |
A |
2: 68,692,151 (GRCm39) |
|
probably null |
Het |
| Copz1 |
A |
G |
15: 103,204,971 (GRCm39) |
E110G |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,512 (GRCm39) |
D682V |
probably damaging |
Het |
| Crb1 |
A |
T |
1: 139,164,768 (GRCm39) |
C1180S |
probably damaging |
Het |
| Cyren |
A |
T |
6: 34,851,593 (GRCm39) |
L114Q |
probably damaging |
Het |
| Echdc3 |
A |
T |
2: 6,194,368 (GRCm39) |
L229Q |
probably damaging |
Het |
| Etfb |
C |
T |
7: 43,104,000 (GRCm39) |
P145L |
probably damaging |
Het |
| Exoc3l2 |
G |
T |
7: 19,203,813 (GRCm39) |
R135L |
|
Het |
| Fam83a |
G |
A |
15: 57,849,569 (GRCm39) |
A38T |
probably damaging |
Het |
| G6pc2 |
T |
C |
2: 69,053,344 (GRCm39) |
Y133H |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,518 (GRCm39) |
I193V |
probably benign |
Het |
| Ggnbp2 |
T |
C |
11: 84,744,899 (GRCm39) |
T208A |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,795 (GRCm39) |
M1019K |
probably damaging |
Het |
| Gm45783 |
T |
C |
7: 7,373,599 (GRCm39) |
D61G |
probably damaging |
Het |
| Golga5 |
T |
C |
12: 102,450,835 (GRCm39) |
|
probably null |
Het |
| Ighe |
A |
G |
12: 113,235,023 (GRCm39) |
V379A |
|
Het |
| Itpr3 |
C |
A |
17: 27,313,774 (GRCm39) |
H573Q |
probably benign |
Het |
| Klhl2 |
A |
G |
8: 65,202,809 (GRCm39) |
L463P |
probably damaging |
Het |
| Large1 |
T |
G |
8: 73,550,343 (GRCm39) |
M619L |
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,308,748 (GRCm39) |
V149E |
probably benign |
Het |
| Lyz2 |
T |
C |
10: 117,118,144 (GRCm39) |
K2E |
probably damaging |
Het |
| Man2c1 |
T |
A |
9: 57,048,412 (GRCm39) |
S858T |
probably damaging |
Het |
| Nt5dc1 |
A |
T |
10: 34,180,932 (GRCm39) |
N439K |
probably benign |
Het |
| Or4a2 |
A |
G |
2: 89,248,145 (GRCm39) |
I204T |
probably benign |
Het |
| Or4n4b |
G |
A |
14: 50,536,281 (GRCm39) |
L162F |
probably benign |
Het |
| Or4p7 |
T |
C |
2: 88,222,224 (GRCm39) |
V211A |
possibly damaging |
Het |
| Or51f1 |
A |
T |
7: 102,506,278 (GRCm39) |
Y70* |
probably null |
Het |
| Or5d43 |
T |
C |
2: 88,105,445 (GRCm39) |
|
probably benign |
Het |
| Or7g27 |
A |
C |
9: 19,250,109 (GRCm39) |
M118L |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,722,843 (GRCm39) |
N296S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,383,298 (GRCm39) |
N789D |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,693,314 (GRCm39) |
D851G |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,712,723 (GRCm39) |
H833R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,023 (GRCm39) |
E119G |
not run |
Het |
| Plekha5 |
A |
G |
6: 140,526,161 (GRCm39) |
D933G |
probably benign |
Het |
| Pnma1 |
G |
A |
12: 84,193,903 (GRCm39) |
R267C |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,558,619 (GRCm39) |
H481L |
probably benign |
Het |
| Prl8a8 |
T |
C |
13: 27,695,418 (GRCm39) |
|
probably null |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,359,647 (GRCm39) |
L406I |
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,758,276 (GRCm39) |
S18P |
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,154,886 (GRCm39) |
V173M |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,254 (GRCm39) |
S583P |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,630 (GRCm39) |
S1217G |
probably benign |
Het |
| S1pr1 |
A |
T |
3: 115,505,922 (GRCm39) |
I224N |
probably damaging |
Het |
| Sall1 |
C |
T |
8: 89,757,681 (GRCm39) |
D808N |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,467 (GRCm39) |
V119A |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,124,798 (GRCm39) |
Y2737* |
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,152,264 (GRCm39) |
Y34C |
unknown |
Het |
| Ssh2 |
A |
T |
11: 77,328,542 (GRCm39) |
E369D |
probably benign |
Het |
| Stx1b |
C |
T |
7: 127,406,531 (GRCm39) |
V273M |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,012,654 (GRCm39) |
H2615R |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,675,758 (GRCm39) |
I225T |
probably benign |
Het |
| Tmem126b |
A |
G |
7: 90,121,854 (GRCm39) |
I52T |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,416,605 (GRCm38) |
D1122N |
probably benign |
Het |
| Trav13-2 |
T |
A |
14: 53,872,363 (GRCm39) |
S7T |
possibly damaging |
Het |
| Ttc1 |
A |
T |
11: 43,636,189 (GRCm39) |
L18Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,567,553 (GRCm39) |
I27780N |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,666,635 (GRCm39) |
S44P |
probably benign |
Het |
| Vmn1r89 |
A |
G |
7: 12,953,632 (GRCm39) |
K123E |
probably damaging |
Het |
| Vmn2r62 |
A |
C |
7: 42,437,316 (GRCm39) |
F389L |
possibly damaging |
Het |
| Vps35l |
C |
T |
7: 118,393,800 (GRCm39) |
|
probably null |
Het |
| Zdhhc11 |
T |
A |
13: 74,121,726 (GRCm39) |
M79K |
possibly damaging |
Het |
| Zfp202 |
G |
T |
9: 40,118,640 (GRCm39) |
V18F |
possibly damaging |
Het |
| Zfp39 |
A |
G |
11: 58,781,869 (GRCm39) |
F298L |
possibly damaging |
Het |
| Znrf1 |
G |
A |
8: 112,264,071 (GRCm39) |
G100D |
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 |
|
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'- TGCTTGCCTTAAAAGATACCTCT -3'
(R):5'- CATGTTCGTGGCATTGCTT -3'
Sequencing Primer
(F):5'- TTTGTGAGATGCCACACACATGC -3'
(R):5'- TGCTTTTCCCTTATGTGGAAAATAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation