Mutagenetix > Incidental Mutation

Incidental Mutation 'R8415:Ccdc18'

652877

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

1700021E15Rik, 4932411G06Rik

MMRRC Submission

067769-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108363899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1198 (V1198E)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

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

AlphaFold

Q640L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047677
AA Change: V1198E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: V1198E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,947 (GRCm39)	H317R	unknown	Het
Aox1	A	T	1: 58,080,638 (GRCm39)	Y29F	probably damaging	Het
Bnip2	T	C	9: 69,910,967 (GRCm39)	F304S	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cnot3	T	C	7: 3,661,687 (GRCm39)	F660L	probably benign	Het
Cntnap3	A	G	13: 64,886,479 (GRCm39)	I1249T	probably benign	Het
Ctnna3	A	G	10: 63,339,909 (GRCm39)	I32V	probably benign	Het
Dgkz	A	T	2: 91,770,649 (GRCm39)	S485T	possibly damaging	Het
Dnaaf6rt	A	G	1: 31,262,564 (GRCm39)	N182S	probably benign	Het
Dpagt1	C	A	9: 44,238,482 (GRCm39)	N49K	possibly damaging	Het
Dsg3	A	T	18: 20,656,765 (GRCm39)	S212C	probably damaging	Het
Epb41l1	C	T	2: 156,368,873 (GRCm39)	A714V	probably benign	Het
Eppk1	A	G	15: 75,995,831 (GRCm39)	V350A	probably benign	Het
Frem1	T	G	4: 82,918,499 (GRCm39)	D481A	probably damaging	Het
Git2	T	C	5: 114,871,989 (GRCm39)	K532E	possibly damaging	Het
Glyr1	T	C	16: 4,854,329 (GRCm39)	H102R	probably benign	Het
Hdgfl2	C	T	17: 56,400,712 (GRCm39)	P160L	probably benign	Het
Hivep1	T	C	13: 42,308,905 (GRCm39)	S382P	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hydin	G	A	8: 111,178,626 (GRCm39)	G1074R	probably damaging	Het
Ift140	A	G	17: 25,311,889 (GRCm39)	I1271V	probably damaging	Het
Krt28	T	A	11: 99,265,626 (GRCm39)	I14L	probably benign	Het
Lrtm2	A	T	6: 119,294,458 (GRCm39)	D224E	probably damaging	Het
Map1s	G	A	8: 71,365,910 (GRCm39)	V272M	probably damaging	Het
Mast3	A	G	8: 71,233,866 (GRCm39)	Y960H	probably damaging	Het
Mettl25	G	T	10: 105,662,002 (GRCm39)	Q323K	probably benign	Het
Mlh3	A	T	12: 85,315,854 (GRCm39)	S111T	probably benign	Het
Muc17	A	G	5: 137,172,798 (GRCm39)	L85P		Het
Myh6	C	G	14: 55,181,835 (GRCm39)	R1822P	probably damaging	Het
Myof	C	T	19: 37,983,872 (GRCm39)	G144E	probably benign	Het
Nat8f2	A	G	6: 85,845,024 (GRCm39)	S113P	probably damaging	Het
Nlrp9a	A	T	7: 26,256,925 (GRCm39)	Y181F	probably benign	Het
Nup85	A	G	11: 115,457,468 (GRCm39)	I57V	probably benign	Het
Or4c99	T	A	2: 88,329,710 (GRCm39)	C94S	probably damaging	Het
Or5p79	C	T	7: 108,221,163 (GRCm39)	T48I	probably damaging	Het
Or7e170	T	A	9: 19,795,409 (GRCm39)	Y64F	possibly damaging	Het
Pcdhb2	A	G	18: 37,429,110 (GRCm39)	N361S	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Phf20	C	T	2: 156,129,913 (GRCm39)	T495M	probably benign	Het
Pitpnm1	T	C	19: 4,155,454 (GRCm39)	M368T	probably benign	Het
Pter	A	G	2: 13,005,700 (GRCm39)	D291G	probably damaging	Het
Rasgrp2	T	G	19: 6,454,781 (GRCm39)	V207G	probably damaging	Het
Rnd2	A	T	11: 101,362,011 (GRCm39)	Q188L	probably benign	Het
Sh3d19	T	A	3: 85,992,363 (GRCm39)	D130E	probably benign	Het
Slc7a2	A	T	8: 41,369,396 (GRCm39)	Y617F	probably damaging	Het
Snx29	T	C	16: 11,265,291 (GRCm39)	L165P	probably damaging	Het
St7	T	C	6: 17,848,080 (GRCm39)		probably null	Het
Tas2r115	A	G	6: 132,714,798 (GRCm39)	L51P	probably damaging	Het
Tead1	C	A	7: 112,456,135 (GRCm39)	P164Q	probably benign	Het
Thop1	A	G	10: 80,914,385 (GRCm39)	Y224C	probably damaging	Het
Twf1	T	C	15: 94,477,702 (GRCm39)	*351W	probably null	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Utp20	A	G	10: 88,662,466 (GRCm39)		probably null	Het
Vmn2r118	G	T	17: 55,915,057 (GRCm39)	L530I	probably benign	Het
Vmn2r30	A	T	7: 7,315,359 (GRCm39)	C825S	probably damaging	Het
Vps13d	A	T	4: 144,818,549 (GRCm39)	M3106K		Het
Wfdc15a	A	T	2: 164,041,671 (GRCm39)	C51S	probably damaging	Het
Zc3hc1	T	C	6: 30,375,951 (GRCm39)	D203G	probably damaging	Het
Zfhx2	G	T	14: 55,308,079 (GRCm39)	D932E	probably benign	Het
Zfp267	G	A	3: 36,219,182 (GRCm39)	G402S	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
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
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'- GGTCATCTCTGAAACGTCTATATTC -3'
(R):5'- AGCTAGACCTCTTAACTCCAGAG -3'

Sequencing Primer
(F):5'- TGCTTCCATTAAGGCACT -3'
(R):5'- CCAGAGCACAATAGCCTTTTAATTGC -3'

Posted On

2020-10-20