Mutagenetix > Incidental Mutation

Incidental Mutation 'R0619:Ccdc18'

58525

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

1700021E15Rik, 4932411G06Rik

MMRRC Submission

038808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108328282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 661 (K661E)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047677]

AlphaFold

Q640L5

Predicted Effect

probably benign
Transcript: ENSMUST00000047677
AA Change: K661E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: K661E

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: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 120,339,739 (GRCm39)	D74N	probably benign	Het
Adgre4	T	A	17: 56,127,679 (GRCm39)	V573D	possibly damaging	Het
Ak7	A	G	12: 105,699,770 (GRCm39)	K230E	probably damaging	Het
Amdhd2	T	C	17: 24,375,562 (GRCm39)	D375G	possibly damaging	Het
Anpep	T	C	7: 79,490,757 (GRCm39)	E253G	probably benign	Het
Bbs7	A	G	3: 36,661,725 (GRCm39)	L158S	probably benign	Het
Bdp1	T	C	13: 100,174,366 (GRCm39)	T2057A	probably benign	Het
C2	G	T	17: 35,091,479 (GRCm39)	H61Q	probably damaging	Het
Cdh23	C	T	10: 60,269,556 (GRCm39)	V655I	probably damaging	Het
Cep78	T	C	19: 15,956,226 (GRCm39)	T238A	probably damaging	Het
Ces2a	T	A	8: 105,462,742 (GRCm39)	N110K	probably benign	Het
Crat	T	C	2: 30,299,996 (GRCm39)	D128G	probably benign	Het
Dclre1a	A	T	19: 56,533,841 (GRCm39)	M233K	probably benign	Het
Dsg4	T	C	18: 20,594,416 (GRCm39)	V515A	probably benign	Het
Fer1l6	T	C	15: 58,534,784 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,226,074 (GRCm39)	D1863G	probably benign	Het
Fsip2	T	A	2: 82,774,484 (GRCm39)	L57Q	probably damaging	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Iqsec1	T	C	6: 90,647,388 (GRCm39)		probably null	Het
Kcnn3	A	C	3: 89,559,337 (GRCm39)	T536P	probably damaging	Het
Kctd3	T	C	1: 188,710,840 (GRCm39)	D441G	probably damaging	Het
Kifc3	G	A	8: 95,829,293 (GRCm39)	T528M	probably benign	Het
Kmt2c	G	A	5: 25,503,914 (GRCm39)	T3798I	probably benign	Het
Map1a	T	A	2: 121,135,736 (GRCm39)	M1946K	probably damaging	Het
Mfhas1	T	A	8: 36,057,829 (GRCm39)	V768E	probably benign	Het
Mroh8	C	A	2: 157,107,001 (GRCm39)	V223F	possibly damaging	Het
Mss51	A	T	14: 20,537,641 (GRCm39)	V30E	probably benign	Het
Mtmr10	G	A	7: 63,970,961 (GRCm39)	R392H	probably benign	Het
Mup3	T	C	4: 62,004,198 (GRCm39)	N105S	probably benign	Het
Myh7b	T	C	2: 155,453,642 (GRCm39)	M22T	probably benign	Het
Or1o2	T	A	17: 37,543,046 (GRCm39)	I72F	possibly damaging	Het
Or2aj5	T	A	16: 19,425,022 (GRCm39)	Y132F	probably damaging	Het
Or5m9	T	A	2: 85,877,655 (GRCm39)	Y276*	probably null	Het
Os9	A	G	10: 126,956,860 (GRCm39)	I43T	probably damaging	Het
Pkhd1l1	T	C	15: 44,347,234 (GRCm39)	L200P	probably damaging	Het
Ptpru	C	T	4: 131,548,198 (GRCm39)	V100M	possibly damaging	Het
Rnf6	G	A	5: 146,147,531 (GRCm39)	R496C	possibly damaging	Het
Rsad1	C	T	11: 94,433,465 (GRCm39)	R407Q	probably damaging	Het
Rspo3	T	C	10: 29,380,633 (GRCm39)	D127G	probably damaging	Het
Sbf2	T	A	7: 109,909,469 (GRCm39)	T1760S	possibly damaging	Het
Sh2d3c	T	A	2: 32,643,037 (GRCm39)	V588E	probably damaging	Het
Siglech	A	T	7: 55,418,910 (GRCm39)	T238S	probably benign	Het
Slc15a2	T	A	16: 36,579,669 (GRCm39)	N328I	probably damaging	Het
Slc16a11	G	T	11: 70,105,858 (GRCm39)	G94C	probably damaging	Het
Stub1	T	C	17: 26,050,296 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,318,483 (GRCm39)	V40D	probably damaging	Het
Tagln3	C	A	16: 45,544,635 (GRCm39)	R12L	probably damaging	Het
Trappc14	A	G	5: 138,262,088 (GRCm39)		probably benign	Het
Tsen54	A	G	11: 115,705,890 (GRCm39)	E69G	probably damaging	Het
Tsks	A	G	7: 44,600,258 (GRCm39)	E150G	probably damaging	Het
Ubap2l	A	C	3: 89,924,527 (GRCm39)	V680G	probably benign	Het
Usp16	A	T	16: 87,269,052 (GRCm39)	H315L	probably benign	Het
Vav2	A	G	2: 27,186,133 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,256,715 (GRCm39)	F1562L	possibly damaging	Het
Zfp764	C	A	7: 127,005,713 (GRCm39)	V22L	probably benign	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
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
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'- GGAAGAAAGCAGAAAGAGATCGGCatataa -3'
(R):5'- agtggggaaaagcctcCAGTATACa -3'

Sequencing Primer
(F):5'- ATGTTTAAAGTGTTCTCAGTGCTTTT -3'
(R):5'- GCTGTTTACACAGTATATCTTGCTGC -3'

Posted On

2013-07-11