Mutagenetix > Incidental Mutation

Incidental Mutation 'R0295:Ccdc18'

37669

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

1700021E15Rik, 4932411G06Rik

MMRRC Submission

038512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0295 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

108280741-108381494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108321655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 586 (K586N)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

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

AlphaFold

Q640L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000047677
AA Change: K586N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: K586N

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

noncoding transcript
Transcript: ENSMUST00000195973

Meta Mutation Damage Score

0.0637

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,290,642 (GRCm39)	S127N	probably damaging	Het
Abcc8	T	C	7: 45,767,478 (GRCm39)	R953G	probably benign	Het
Adamtsl3	T	A	7: 82,197,213 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,837 (GRCm39)	D337G	probably damaging	Het
Apob	T	A	12: 8,052,181 (GRCm39)	Y1207*	probably null	Het
Birc6	T	C	17: 74,920,357 (GRCm39)		probably benign	Het
Bms1	A	G	6: 118,366,298 (GRCm39)	I1065T	probably benign	Het
Cacna1i	T	A	15: 80,240,412 (GRCm39)	L378Q	probably damaging	Het
Ccdc127	C	A	13: 74,504,989 (GRCm39)	P179H	probably damaging	Het
Cep290	A	C	10: 100,373,683 (GRCm39)	E1321A	probably damaging	Het
Cstpp1	A	T	2: 91,112,939 (GRCm39)	I173N	probably damaging	Het
Ctc1	A	G	11: 68,921,414 (GRCm39)	K682E	possibly damaging	Het
Cux1	A	C	5: 136,342,066 (GRCm39)	V442G	probably benign	Het
Dph2	A	T	4: 117,748,127 (GRCm39)	V150E	possibly damaging	Het
Etv6	A	G	6: 134,243,238 (GRCm39)	D331G	probably benign	Het
Fbxo42	A	G	4: 140,927,808 (GRCm39)	D696G	probably damaging	Het
Fbxo8	G	A	8: 57,043,109 (GRCm39)	D198N	probably benign	Het
Gria4	T	C	9: 4,793,840 (GRCm39)	T73A	possibly damaging	Het
H2aj	C	G	6: 136,785,602 (GRCm39)	R89G	probably damaging	Het
Ifng	G	T	10: 118,277,154 (GRCm39)	S32I	possibly damaging	Het
Ildr1	A	G	16: 36,529,839 (GRCm39)		probably null	Het
Knl1	A	C	2: 118,919,320 (GRCm39)	D1824A	probably damaging	Het
Lamp3	A	T	16: 19,519,858 (GRCm39)	Y108*	probably null	Het
Lcp1	A	G	14: 75,436,860 (GRCm39)	I69V	probably null	Het
Lrp6	A	T	6: 134,434,656 (GRCm39)	V1349E	probably benign	Het
Lrrcc1	A	T	3: 14,630,909 (GRCm39)	E1009D	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Med14	G	C	X: 12,551,987 (GRCm39)	R1223G	probably damaging	Het
Mesd	C	T	7: 83,547,073 (GRCm39)	Q179*	probably null	Het
Myh7	A	G	14: 55,222,278 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,861 (GRCm39)	I804T	probably damaging	Het
Neb	T	C	2: 52,174,297 (GRCm39)	I1521V	possibly damaging	Het
Nosip	T	A	7: 44,726,340 (GRCm39)	I249N	probably damaging	Het
Nostrin	A	C	2: 69,009,760 (GRCm39)	E296A	probably benign	Het
Oprk1	T	C	1: 5,669,073 (GRCm39)	L173S	possibly damaging	Het
Or2n1d	A	T	17: 38,646,182 (GRCm39)	I45F	probably damaging	Het
Or4k36	T	A	2: 111,146,499 (GRCm39)	V225D	probably damaging	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5p1	T	G	7: 107,916,892 (GRCm39)	S264A	probably benign	Het
Pdzd7	A	G	19: 45,025,511 (GRCm39)	V328A	probably benign	Het
Podxl2	A	T	6: 88,826,660 (GRCm39)	S215R	probably benign	Het
Prss36	T	G	7: 127,535,027 (GRCm39)	T418P	possibly damaging	Het
Ralgps2	T	A	1: 156,651,555 (GRCm39)		probably benign	Het
Rasa2	T	C	9: 96,427,863 (GRCm39)		probably null	Het
Rgs1	A	T	1: 144,121,224 (GRCm39)	I149N	probably damaging	Het
Rgs16	A	G	1: 153,619,483 (GRCm39)	E163G	probably damaging	Het
Rnf121	A	G	7: 101,684,553 (GRCm39)	F120S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slfn8	A	T	11: 82,894,169 (GRCm39)	Y823*	probably null	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
St6gal1	T	A	16: 23,174,953 (GRCm39)		probably benign	Het
Tet3	G	A	6: 83,346,121 (GRCm39)	P1304S	probably benign	Het
Timm29	T	C	9: 21,504,372 (GRCm39)		probably null	Het
Tpcn1	T	A	5: 120,677,125 (GRCm39)	I687F	probably damaging	Het
Trim46	A	G	3: 89,152,420 (GRCm39)		probably benign	Het
Ttc23	T	A	7: 67,319,600 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,045,540 (GRCm39)	V586L	probably benign	Het
Ttn	A	T	2: 76,588,955 (GRCm39)		probably benign	Het
Uba3	A	T	6: 97,168,544 (GRCm39)	H160Q	possibly damaging	Het
Usp32	A	G	11: 84,944,518 (GRCm39)	S316P	probably damaging	Het
Vcan	T	C	13: 89,860,310 (GRCm39)	I352M	probably benign	Het
Zcwpw1	G	T	5: 137,815,734 (GRCm39)	L412F	probably damaging	Het
Zfp292	A	T	4: 34,806,281 (GRCm39)	N2254K	probably damaging	Het
Zscan4e	A	G	7: 11,041,543 (GRCm39)	S138P	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
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
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'- gcctggctACCAGCCTAGTTTTCAA -3'
(R):5'- GACCAGAGAAGAGACTCTCTCCAACAT -3'

Sequencing Primer
(F):5'- TTAGGGTTTGGAATGAGGAGCAA -3'
(R):5'- cagggagtagaggcaggag -3'

Posted On

2013-05-23