Mutagenetix > Incidental Mutation

Incidental Mutation 'R9536:Ccdc18'

719685

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

1700021E15Rik, 4932411G06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9536 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108286792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 109 (S109P)

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: S109P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: S109P

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
AA Change: S109P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531
AA Change: S109P

Domain	Start	End	E-Value	Type
coiled coil region	109	140	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,623 (GRCm39)	L259F	probably damaging	Het
Adamts6	A	C	13: 104,489,313 (GRCm39)	I389L	probably benign	Het
Adcy7	A	T	8: 89,053,026 (GRCm39)	E974V	possibly damaging	Het
Agbl3	G	T	6: 34,823,861 (GRCm39)	R847M	probably benign	Het
Ank2	T	G	3: 126,736,031 (GRCm39)	Q3284H	unknown	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bod1l	C	A	5: 41,974,305 (GRCm39)	E2336D	probably benign	Het
Ccdc62	T	C	5: 124,092,749 (GRCm39)	F578S	probably damaging	Het
Chid1	A	G	7: 141,093,755 (GRCm39)	V287A	probably benign	Het
Cyp26b1	T	G	6: 84,553,999 (GRCm39)	D206A	probably benign	Het
Dennd6a	A	T	14: 26,329,758 (GRCm39)	K334*	probably null	Het
Drd3	T	C	16: 43,637,368 (GRCm39)	V189A	probably damaging	Het
Fmn1	T	C	2: 113,309,262 (GRCm39)	I728T	unknown	Het
Frem3	G	A	8: 81,342,048 (GRCm39)	G1447D	probably benign	Het
Gck	T	C	11: 5,852,307 (GRCm39)	D344G	possibly damaging	Het
Gimap9	T	A	6: 48,654,416 (GRCm39)	M1K	probably null	Het
Glb1l3	T	C	9: 26,770,929 (GRCm39)	T46A	probably benign	Het
Gm13941	T	C	2: 110,918,861 (GRCm39)	T198A	unknown	Het
Gphn	T	G	12: 78,609,636 (GRCm39)	S327A	possibly damaging	Het
Hmcn2	T	C	2: 31,335,130 (GRCm39)	S4356P	possibly damaging	Het
Iqgap1	A	T	7: 80,458,840 (GRCm39)	M26K		Het
Iqsec1	A	G	6: 90,666,659 (GRCm39)	Y489H	probably damaging	Het
Lars1	T	A	18: 42,376,046 (GRCm39)	R255*	probably null	Het
Lrp5	G	A	19: 3,672,672 (GRCm39)	H546Y	probably damaging	Het
Or2c1	T	A	16: 3,657,438 (GRCm39)	N200K	possibly damaging	Het
Or52a5b	A	T	7: 103,416,779 (GRCm39)	V275E	probably damaging	Het
Or5p61	T	C	7: 107,759,075 (GRCm39)	I2V	probably benign	Het
Or6c33	G	A	10: 129,853,345 (GRCm39)	M38I	probably benign	Het
Osbpl6	T	A	2: 76,416,554 (GRCm39)	C691S	probably benign	Het
Pcbp3	G	A	10: 76,599,225 (GRCm39)	L304F	possibly damaging	Het
Pramel34	G	C	5: 93,784,289 (GRCm39)	L392V	probably damaging	Het
Rpl5	T	A	5: 108,051,721 (GRCm39)	S172T	probably benign	Het
Rps2	C	T	17: 24,940,851 (GRCm39)	H297Y	unknown	Het
Scp2	A	T	4: 107,928,532 (GRCm39)	V386E	possibly damaging	Het
Sh2d5	T	A	4: 137,986,420 (GRCm39)	V381E	probably benign	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tat	T	A	8: 110,722,711 (GRCm39)	C258S	probably benign	Het
Thbs2	T	C	17: 14,910,147 (GRCm39)	N151D	probably damaging	Het
Thbs3	A	T	3: 89,124,044 (GRCm39)	I46F	possibly damaging	Het
Trpm6	A	T	19: 18,764,123 (GRCm39)	D243V	probably damaging	Het
Ttn	T	A	2: 76,739,017 (GRCm39)	N3887Y	unknown	Het
Ubap2	A	G	4: 41,195,661 (GRCm39)	S1020P	probably benign	Het
Ubtfl1	A	T	9: 18,320,537 (GRCm39)	M22L	probably benign	Het
V1rd19	A	T	7: 23,703,253 (GRCm39)	I240F	probably damaging	Het
Vwa5b2	C	T	16: 20,414,449 (GRCm39)	P275L	probably damaging	Het
Zfp386	G	A	12: 116,023,686 (GRCm39)	C468Y	probably damaging	Het
Zfp975	A	C	7: 42,312,345 (GRCm39)	H89Q	probably benign	Het
Zfyve26	T	A	12: 79,298,046 (GRCm39)	N1881I	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
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
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'- CTATGACTGGAAAAGAATGTCTCAC -3'
(R):5'- GCAAGTGCTCTCTAACATATAAGC -3'

Sequencing Primer
(F):5'- ATGTCTCACATAATACTCCCTAATGC -3'
(R):5'- TCTGGTGCCTCTAAAGACAGCTG -3'

Posted On

2022-07-18