Mutagenetix > Incidental Mutation

Incidental Mutation 'R6947:Ccdc18'

540922

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

1700021E15Rik, 4932411G06Rik

MMRRC Submission

045060-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108309401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 332 (V332A)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047677] [ENSMUST00000197718]

AlphaFold

Q640L5

Predicted Effect

probably benign
Transcript: ENSMUST00000047677
AA Change: V332A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: V332A

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

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: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.0%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,073,857 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,015,848 (GRCm39)	T414A	possibly damaging	Het
Bop1	A	G	15: 76,338,188 (GRCm39)	F561L	probably damaging	Het
Cep290	A	G	10: 100,365,918 (GRCm39)	T1042A	probably damaging	Het
Cnot8	G	T	11: 58,008,331 (GRCm39)	V266L	probably benign	Het
Cxxc4	C	T	3: 133,946,277 (GRCm39)	S286F	possibly damaging	Het
Cyp2d12	A	T	15: 82,443,248 (GRCm39)	I386L	probably benign	Het
Dgka	A	T	10: 128,568,884 (GRCm39)	I227N	probably damaging	Het
Eif2d	T	C	1: 131,092,404 (GRCm39)	V354A	probably benign	Het
Fgr	T	A	4: 132,722,380 (GRCm39)		probably null	Het
Idnk	A	G	13: 58,308,055 (GRCm39)		probably null	Het
Kmt2e	T	C	5: 23,702,543 (GRCm39)	S952P	probably damaging	Het
Kng1	A	G	16: 22,896,124 (GRCm39)	H343R	probably benign	Het
Lgals8	G	A	13: 12,469,682 (GRCm39)		probably benign	Het
Lrit3	T	A	3: 129,582,883 (GRCm39)	Q368L	probably benign	Het
Lypd8	A	T	11: 58,273,592 (GRCm39)	T24S	probably benign	Het
Map3k4	G	A	17: 12,479,456 (GRCm39)	Q704*	probably null	Het
Mcm3ap	A	G	10: 76,351,500 (GRCm39)	I1948V	probably benign	Het
Mettl25	A	G	10: 105,662,053 (GRCm39)	F306L	probably benign	Het
Mos	A	C	4: 3,871,585 (GRCm39)	V77G	probably damaging	Het
Muc4	C	T	16: 32,596,177 (GRCm39)	R3130C	possibly damaging	Het
Naxd	T	C	8: 11,552,757 (GRCm39)	V59A	probably damaging	Het
Nup107	A	G	10: 117,593,179 (GRCm39)	V833A	probably benign	Het
Or1p4-ps1	C	T	11: 74,208,370 (GRCm39)	S173L	unknown	Het
Or5m10b	T	C	2: 85,699,271 (GRCm39)	F112L	probably benign	Het
Pcnx2	C	T	8: 126,577,021 (GRCm39)		probably null	Het
Pde10a	T	A	17: 9,188,424 (GRCm39)	I908N	probably damaging	Het
Plcb1	A	G	2: 135,228,075 (GRCm39)	K1058R	probably benign	Het
Rad17	A	T	13: 100,759,383 (GRCm39)	F548Y	probably damaging	Het
Rad54b	T	G	4: 11,569,859 (GRCm39)	S58R	possibly damaging	Het
Rbm20	G	A	19: 53,839,696 (GRCm39)	G895D	probably damaging	Het
Rgs22	T	C	15: 36,104,036 (GRCm39)		probably null	Het
Rhobtb3	A	G	13: 76,058,785 (GRCm39)	S338P	probably benign	Het
Ruvbl2	A	G	7: 45,074,373 (GRCm39)		probably null	Het
Slc16a12	A	G	19: 34,650,007 (GRCm39)	F343L	probably benign	Het
Slc22a28	A	G	19: 8,041,875 (GRCm39)	L444P	possibly damaging	Het
Slc44a4	A	T	17: 35,147,044 (GRCm39)	Q358L	probably null	Het
Sowaha	A	G	11: 53,369,225 (GRCm39)	F504L	probably benign	Het
Syne1	A	G	10: 5,125,789 (GRCm39)	L6035P	probably damaging	Het
Thbs2	A	T	17: 14,910,029 (GRCm39)	M190K	possibly damaging	Het
Tmem171	A	G	13: 98,824,950 (GRCm39)	F227L	possibly damaging	Het
Trp53	A	G	11: 69,479,307 (GRCm39)	K162E	possibly damaging	Het
Ttn	T	A	2: 76,724,732 (GRCm39)	K2098*	probably null	Het
Usp30	T	C	5: 114,241,821 (GRCm39)	S88P	probably benign	Het
Zfp276	C	A	8: 123,981,643 (GRCm39)	D63E	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
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
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'- GAGCTTAACCCTCATCTACCAGG -3'
(R):5'- CCCTTGAATTATCAATGTCCTGCTG -3'

Sequencing Primer
(F):5'- CCCTAGGATAAATGCCATTGGGTC -3'
(R):5'- TGCTGACACAACTCTAGTCG -3'

Posted On

2018-11-28