Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Ccdc18'

596984

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 108149041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

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

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

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,361,792 (GRCm38)	L103F	probably benign	Het
5330417H12Rik	A	G	7: 107,624,558 (GRCm38)	L103P	unknown	Het
Actb	T	C	5: 142,904,695 (GRCm38)	I151V	probably benign	Het
Adcy6	T	A	15: 98,604,556 (GRCm38)	H59L	probably benign	Het
Adss2	G	C	1: 177,772,202 (GRCm38)	S272*	probably null	Het
Aga	A	T	8: 53,511,805 (GRCm38)	M1L	possibly damaging	Het
Ajm1	T	A	2: 25,578,959 (GRCm38)	E313D	possibly damaging	Het
Anxa5	G	A	3: 36,465,331 (GRCm38)	T3M	probably damaging	Het
Arhgap45	A	T	10: 80,016,932 (GRCm38)		probably benign	Het
Atp6v0a2	A	T	5: 124,716,496 (GRCm38)	H639L	probably benign	Het
BC005537	C	T	13: 24,803,399 (GRCm38)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379 (GRCm38)		probably benign	Het
Bltp1	A	G	3: 36,959,335 (GRCm38)		probably null	Het
Bod1l	A	C	5: 41,832,340 (GRCm38)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,719,561 (GRCm38)	D46G	probably damaging	Het
Camk1	T	C	6: 113,340,328 (GRCm38)	E60G	probably damaging	Het
Capza1	A	T	3: 104,825,405 (GRCm38)		probably null	Het
Cdh20	G	A	1: 104,941,299 (GRCm38)	A172T	probably damaging	Het
Cdk4	C	T	10: 127,064,429 (GRCm38)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,889 (GRCm38)		probably null	Het
Chd3	T	C	11: 69,355,633 (GRCm38)	M1092V	probably benign	Het
Chd6	A	T	2: 160,966,619 (GRCm38)	H1558Q	probably benign	Het
Chi3l1	A	G	1: 134,189,228 (GRCm38)	H318R	probably benign	Het
Cps1	A	G	1: 67,139,806 (GRCm38)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 87,032,381 (GRCm38)	V111A	probably damaging	Het
Ddx39b	G	A	17: 35,252,750 (GRCm38)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,265,117 (GRCm38)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,177,865 (GRCm38)	K64N	probably damaging	Het
Eef1ece2	A	T	16: 20,633,084 (GRCm38)	D407V	probably damaging	Het
Fam135a	A	G	1: 24,028,969 (GRCm38)	S940P	probably benign	Het
Fam234b	T	A	6: 135,209,351 (GRCm38)	V119E	probably damaging	Het
Fbxo46	G	C	7: 19,136,533 (GRCm38)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,595,520 (GRCm38)		probably benign	Het
Fmn2	T	A	1: 174,666,649 (GRCm38)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm38)	T64K	probably damaging	Het
Fscb	A	T	12: 64,474,407 (GRCm38)	M95K	probably benign	Het
Fyb1	T	G	15: 6,638,826 (GRCm38)	V500G	probably damaging	Het
G2e3	A	G	12: 51,371,667 (GRCm38)	N615S	probably benign	Het
Gart	T	C	16: 91,630,652 (GRCm38)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,422,398 (GRCm38)	D696V	probably benign	Het
Glmn	C	T	5: 107,562,244 (GRCm38)		probably null	Het
Gm47985	A	T	1: 151,182,974 (GRCm38)	D122V	probably damaging	Het
Gm7168	A	G	17: 13,948,652 (GRCm38)	K94E	probably benign	Het
Gnai2	T	C	9: 107,615,735 (GRCm38)	H323R		Het
Helz2	C	T	2: 181,234,531 (GRCm38)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,967,587 (GRCm38)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,964,650 (GRCm38)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,574,995 (GRCm38)	R343S	probably damaging	Het
Itga8	T	A	2: 12,230,239 (GRCm38)	I403F	possibly damaging	Het
Katnip	A	T	7: 125,829,801 (GRCm38)	M558L	probably benign	Het
Krt33a	C	T	11: 100,011,602 (GRCm38)	R404H	probably benign	Het
Krt34	T	A	11: 100,038,938 (GRCm38)	E244V	probably damaging	Het
Krt42	T	C	11: 100,266,966 (GRCm38)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 142,175,108 (GRCm38)		probably benign	Het
Lama1	T	C	17: 67,750,590 (GRCm38)	L553P		Het
Lcn9	T	A	2: 25,824,914 (GRCm38)	*179K	probably null	Het
Ldaf1	A	T	7: 120,115,479 (GRCm38)	I64F	possibly damaging	Het
Lrrc2	T	G	9: 110,980,931 (GRCm38)	M345R	possibly damaging	Het
Marchf11	T	C	15: 26,387,830 (GRCm38)	V257A	probably damaging	Het
Masp2	T	C	4: 148,605,706 (GRCm38)	I224T	probably benign	Het
Mpz	A	T	1: 171,159,940 (GRCm38)		probably null	Het
Mtr	C	T	13: 12,227,839 (GRCm38)	A442T	probably benign	Het
Muc5b	A	G	7: 141,847,805 (GRCm38)	K596R	unknown	Het
Myo15a	T	G	11: 60,504,901 (GRCm38)	F1397C		Het
Ncor2	T	C	5: 125,109,967 (GRCm38)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,138,484 (GRCm38)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,654,801 (GRCm38)	A390T	probably damaging	Het
Or10a3n	T	C	7: 108,894,078 (GRCm38)	T115A	probably benign	Het
Or1e22	T	G	11: 73,486,168 (GRCm38)	I219L	probably benign	Het
Pds5a	T	A	5: 65,619,666 (GRCm38)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,786 (GRCm38)	R966L	possibly damaging	Het
Plk3	T	C	4: 117,131,728 (GRCm38)	Y278C	probably damaging	Het
Plxna1	C	G	6: 89,337,352 (GRCm38)		probably null	Het
Plxna1	T	A	6: 89,337,353 (GRCm38)		probably null	Het
Ppp4r4	G	A	12: 103,605,061 (GRCm38)		probably null	Het
Pramel6	T	A	2: 87,508,699 (GRCm38)	V81E	probably damaging	Het
Prdm2	T	C	4: 143,135,889 (GRCm38)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,993,091 (GRCm38)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,540,072 (GRCm38)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,191 (GRCm38)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,688,772 (GRCm38)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,099,504 (GRCm38)	I744V	probably null	Het
Rad54l2	A	G	9: 106,719,034 (GRCm38)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,269 (GRCm38)		probably null	Het
Rtcb	A	T	10: 85,941,968 (GRCm38)	D447E	probably benign	Het
Rtn1	C	T	12: 72,216,926 (GRCm38)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,389,357 (GRCm38)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,130,463 (GRCm38)	M1T	probably null	Het
Slc1a4	T	C	11: 20,332,252 (GRCm38)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,326,179 (GRCm38)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,229,175 (GRCm38)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,398,600 (GRCm38)	I226V	probably benign	Het
Spata22	T	G	11: 73,336,254 (GRCm38)	I98S	probably null	Het
Spef2	C	T	15: 9,652,945 (GRCm38)	V917M	probably damaging	Het
Sspo	C	A	6: 48,449,465 (GRCm38)	C139*	probably null	Het
Tenm4	A	G	7: 96,894,702 (GRCm38)	D2012G	probably damaging	Het
Tgm5	G	A	2: 121,052,808 (GRCm38)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,307,328 (GRCm38)	W82*	probably null	Het
Topors	T	A	4: 40,262,654 (GRCm38)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,651,112 (GRCm38)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,935,250 (GRCm38)	D19E	unknown	Het
Usp17lc	A	G	7: 103,418,481 (GRCm38)	T328A	probably damaging	Het
Utrn	A	G	10: 12,614,508 (GRCm38)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,978,564 (GRCm38)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,921,135 (GRCm38)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,963,089 (GRCm38)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,400,815 (GRCm38)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240 (GRCm38)		probably benign	Het
Zfp773	T	C	7: 7,132,908 (GRCm38)	R230G	probably benign	Het

Other mutations in Ccdc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Ccdc18	APN	5	108,180,525 (GRCm38)	missense	probably benign	0.01
IGL01380:Ccdc18	APN	5	108,180,887 (GRCm38)	missense	probably damaging	0.96
IGL01405:Ccdc18	APN	5	108,202,186 (GRCm38)	splice site	probably benign
IGL01718:Ccdc18	APN	5	108,201,348 (GRCm38)	missense	possibly damaging	0.81
IGL02098:Ccdc18	APN	5	108,202,111 (GRCm38)	missense	probably damaging	1.00
IGL02227:Ccdc18	APN	5	108,148,922 (GRCm38)	missense	possibly damaging	0.89
IGL02391:Ccdc18	APN	5	108,136,052 (GRCm38)	missense	probably damaging	1.00
IGL02794:Ccdc18	APN	5	108,171,748 (GRCm38)	missense	probably benign	0.00
IGL02808:Ccdc18	APN	5	108,135,969 (GRCm38)	splice site	probably benign
IGL02880:Ccdc18	APN	5	108,135,444 (GRCm38)	missense	probably benign	0.31
IGL03069:Ccdc18	APN	5	108,228,901 (GRCm38)	missense	probably damaging	1.00
IGL03390:Ccdc18	APN	5	108,212,131 (GRCm38)	missense	probably damaging	1.00
PIT4402001:Ccdc18	UTSW	5	108,158,619 (GRCm38)	missense	possibly damaging	0.94
R0004:Ccdc18	UTSW	5	108,161,700 (GRCm38)	missense	possibly damaging	0.52
R0112:Ccdc18	UTSW	5	108,173,761 (GRCm38)	missense	probably damaging	1.00
R0295:Ccdc18	UTSW	5	108,173,789 (GRCm38)	missense	probably damaging	1.00
R0546:Ccdc18	UTSW	5	108,174,964 (GRCm38)	missense	probably benign	0.06
R0619:Ccdc18	UTSW	5	108,180,416 (GRCm38)	missense	probably benign	0.04
R0648:Ccdc18	UTSW	5	108,174,987 (GRCm38)	missense	probably damaging	1.00
R0648:Ccdc18	UTSW	5	108,135,560 (GRCm38)	missense	probably damaging	0.99
R0666:Ccdc18	UTSW	5	108,163,664 (GRCm38)	missense	probably benign	0.19
R1271:Ccdc18	UTSW	5	108,202,116 (GRCm38)	nonsense	probably null
R1509:Ccdc18	UTSW	5	108,188,978 (GRCm38)	missense	possibly damaging	0.89
R1539:Ccdc18	UTSW	5	108,191,977 (GRCm38)	missense	probably damaging	1.00
R1542:Ccdc18	UTSW	5	108,212,188 (GRCm38)	missense	probably benign
R1663:Ccdc18	UTSW	5	108,216,090 (GRCm38)	missense	probably damaging	1.00
R1865:Ccdc18	UTSW	5	108,193,802 (GRCm38)	missense	probably benign	0.00
R1870:Ccdc18	UTSW	5	108,220,837 (GRCm38)	missense	possibly damaging	0.90
R1897:Ccdc18	UTSW	5	108,196,042 (GRCm38)	missense	probably benign	0.00
R1946:Ccdc18	UTSW	5	108,228,995 (GRCm38)	missense	probably damaging	1.00
R2420:Ccdc18	UTSW	5	108,228,588 (GRCm38)	missense	probably damaging	0.96
R2421:Ccdc18	UTSW	5	108,228,588 (GRCm38)	missense	probably damaging	0.96
R2422:Ccdc18	UTSW	5	108,228,588 (GRCm38)	missense	probably damaging	0.96
R4078:Ccdc18	UTSW	5	108,158,528 (GRCm38)	nonsense	probably null
R4079:Ccdc18	UTSW	5	108,158,528 (GRCm38)	nonsense	probably null
R4244:Ccdc18	UTSW	5	108,148,972 (GRCm38)	nonsense	probably null
R4409:Ccdc18	UTSW	5	108,220,842 (GRCm38)	nonsense	probably null
R4428:Ccdc18	UTSW	5	108,136,077 (GRCm38)	missense	probably benign	0.01
R4455:Ccdc18	UTSW	5	108,161,529 (GRCm38)	missense	possibly damaging	0.68
R4499:Ccdc18	UTSW	5	108,228,960 (GRCm38)	missense	possibly damaging	0.62
R4612:Ccdc18	UTSW	5	108,135,441 (GRCm38)	missense	probably benign	0.01
R4907:Ccdc18	UTSW	5	108,136,141 (GRCm38)	missense	probably benign	0.01
R4972:Ccdc18	UTSW	5	108,192,003 (GRCm38)	missense	probably benign
R5039:Ccdc18	UTSW	5	108,158,648 (GRCm38)	critical splice donor site	probably null
R5835:Ccdc18	UTSW	5	108,140,874 (GRCm38)	missense	possibly damaging	0.94
R5854:Ccdc18	UTSW	5	108,206,728 (GRCm38)	missense	possibly damaging	0.79
R6128:Ccdc18	UTSW	5	108,163,759 (GRCm38)	missense	possibly damaging	0.76
R6229:Ccdc18	UTSW	5	108,171,618 (GRCm38)	missense	probably benign	0.00
R6271:Ccdc18	UTSW	5	108,174,887 (GRCm38)	missense	possibly damaging	0.65
R6315:Ccdc18	UTSW	5	108,161,582 (GRCm38)	missense	probably benign
R6359:Ccdc18	UTSW	5	108,135,525 (GRCm38)	missense	probably damaging	1.00
R6375:Ccdc18	UTSW	5	108,174,954 (GRCm38)	missense	possibly damaging	0.79
R6388:Ccdc18	UTSW	5	108,201,348 (GRCm38)	missense	possibly damaging	0.81
R6415:Ccdc18	UTSW	5	108,161,746 (GRCm38)	missense	probably benign	0.03
R6560:Ccdc18	UTSW	5	108,191,924 (GRCm38)	missense	probably benign	0.09
R6645:Ccdc18	UTSW	5	108,138,930 (GRCm38)	missense	probably benign
R6664:Ccdc18	UTSW	5	108,168,100 (GRCm38)	nonsense	probably null
R6836:Ccdc18	UTSW	5	108,197,967 (GRCm38)	missense	probably damaging	1.00
R6947:Ccdc18	UTSW	5	108,161,535 (GRCm38)	missense	probably benign	0.26
R7009:Ccdc18	UTSW	5	108,173,862 (GRCm38)	critical splice donor site	probably null
R7052:Ccdc18	UTSW	5	108,161,688 (GRCm38)	missense	probably benign	0.15
R7058:Ccdc18	UTSW	5	108,193,798 (GRCm38)	missense	probably benign
R7087:Ccdc18	UTSW	5	108,196,122 (GRCm38)	missense	probably benign
R7117:Ccdc18	UTSW	5	108,148,969 (GRCm38)	missense	possibly damaging	0.95
R7176:Ccdc18	UTSW	5	108,168,106 (GRCm38)	missense	probably benign
R7382:Ccdc18	UTSW	5	108,139,007 (GRCm38)	missense	probably damaging	1.00
R7477:Ccdc18	UTSW	5	108,220,850 (GRCm38)	missense	probably damaging	0.98
R7493:Ccdc18	UTSW	5	108,206,617 (GRCm38)	nonsense	probably null
R7506:Ccdc18	UTSW	5	108,163,739 (GRCm38)	missense	possibly damaging	0.85
R7635:Ccdc18	UTSW	5	108,229,049 (GRCm38)	critical splice donor site	probably null
R7690:Ccdc18	UTSW	5	108,228,662 (GRCm38)	missense	probably benign	0.00
R7812:Ccdc18	UTSW	5	108,180,833 (GRCm38)	missense	probably benign	0.00
R8017:Ccdc18	UTSW	5	108,228,645 (GRCm38)	nonsense	probably null
R8019:Ccdc18	UTSW	5	108,228,645 (GRCm38)	nonsense	probably null
R8172:Ccdc18	UTSW	5	108,163,774 (GRCm38)	critical splice donor site	probably null
R8177:Ccdc18	UTSW	5	108,197,795 (GRCm38)	missense	possibly damaging	0.65
R8344:Ccdc18	UTSW	5	108,161,503 (GRCm38)	missense	possibly damaging	0.88
R8351:Ccdc18	UTSW	5	108,155,797 (GRCm38)	missense	probably damaging	1.00
R8415:Ccdc18	UTSW	5	108,216,033 (GRCm38)	missense	probably damaging	1.00
R8451:Ccdc18	UTSW	5	108,155,797 (GRCm38)	missense	probably damaging	1.00
R8547:Ccdc18	UTSW	5	108,197,859 (GRCm38)	missense	probably damaging	1.00
R8725:Ccdc18	UTSW	5	108,180,417 (GRCm38)	missense	possibly damaging	0.66
R9137:Ccdc18	UTSW	5	108,148,990 (GRCm38)	missense	probably damaging	0.98
R9391:Ccdc18	UTSW	5	108,228,904 (GRCm38)	missense	probably benign	0.02
R9418:Ccdc18	UTSW	5	108,155,803 (GRCm38)	missense	probably damaging	1.00
R9536:Ccdc18	UTSW	5	108,138,926 (GRCm38)	missense	probably benign	0.01
R9565:Ccdc18	UTSW	5	108,191,934 (GRCm38)	missense	probably damaging	0.99
RF013:Ccdc18	UTSW	5	108,220,716 (GRCm38)	missense	probably benign	0.05
X0024:Ccdc18	UTSW	5	108,191,922 (GRCm38)	missense	probably benign	0.01
X0063:Ccdc18	UTSW	5	108,212,197 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTTATGAATATGCCTTTCTCTCTT -3'
(R):5'- TCCTGGGCTATTTCTTGTATTCA -3'

Sequencing Primer
(F):5'- CAGAGTCAGAAAATGGTGATTG -3'
(R):5'- CTCTTGATACTCCAGCGTGAGAG -3'

Posted On

2019-11-26