Mutagenetix > Incidental Mutations

Incidental Mutation 'R0112:Ccdc18'

20498

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

MMRRC Submission

038398-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0112 (G1)

Quality Score

112

Status

Validated (trace)

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108173761 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 577 (K577R)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000047677
AA Change: K577R

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

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: K577R

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

0.1060

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,803	Y179F	probably benign	Het
Abcd4	A	G	12: 84,612,899		probably benign	Het
Abhd12b	C	T	12: 70,181,017	T191M	probably benign	Het
Adcy5	A	G	16: 35,156,178	E27G	possibly damaging	Het
Adgb	G	A	10: 10,407,158		probably benign	Het
Afdn	T	C	17: 13,884,637	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,651,626	R351L	probably damaging	Het
Axin2	T	C	11: 108,939,397	S348P	possibly damaging	Het
BC030499	T	C	11: 78,291,681		probably benign	Het
Bfsp1	A	C	2: 143,827,643		probably null	Het
Brd1	A	G	15: 88,730,383	V103A	probably benign	Het
Ccdc13	C	A	9: 121,813,481	K392N	probably damaging	Het
Csmd2	G	T	4: 128,496,029	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,629,523	M484K	probably benign	Het
Defb3	T	A	8: 19,293,407	L12Q	probably null	Het
Defb7	G	T	8: 19,495,170		probably null	Het
Dhx35	T	A	2: 158,840,620	M491K	probably damaging	Het
Dnah17	T	C	11: 118,074,434	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,679	E853D	probably benign	Het
Dner	C	A	1: 84,583,053	A23S	probably benign	Het
Dock5	A	C	14: 67,819,641	S539A	probably benign	Het
Dsg2	T	A	18: 20,583,042	F317I	probably benign	Het
Enox1	A	T	14: 77,699,198	I539F	possibly damaging	Het
Eogt	G	A	6: 97,135,284		probably benign	Het
Fbxo22	A	G	9: 55,223,346	T300A	probably benign	Het
Fes	T	C	7: 80,384,005	D166G	probably damaging	Het
Fn1	A	G	1: 71,609,653	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,540,495		probably benign	Het
Foxh1	T	C	15: 76,669,010	H168R	probably benign	Het
Galnt14	T	G	17: 73,574,984		probably benign	Het
Gdf6	A	G	4: 9,844,482	D2G	probably damaging	Het
Gp6	C	A	7: 4,370,184	A247S	probably benign	Het
Gp6	G	C	7: 4,371,627	P232A	probably benign	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,670,448	T198A	possibly damaging	Het
Helz	T	C	11: 107,672,948		probably benign	Het
Htr1d	A	G	4: 136,443,000	E180G	probably benign	Het
Igsf10	A	G	3: 59,326,008	V1768A	probably benign	Het
Ints10	A	T	8: 68,827,302	T694S	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lipc	T	A	9: 70,820,427	Y131F	probably damaging	Het
Litaf	G	T	16: 10,966,511	T45K	probably damaging	Het
Lmo7	A	T	14: 101,887,193	R363*	probably null	Het
Lrrc37a	A	T	11: 103,500,913	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,358,276	A943T	probably damaging	Het
Mtor	A	G	4: 148,480,923	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,351,447	Y384*	probably null	Het
Nat2	C	T	8: 67,501,726	Q163*	probably null	Het
Nell2	A	G	15: 95,431,681		probably benign	Het
Nphp3	C	T	9: 104,037,348	H102Y	possibly damaging	Het
Olfr1383	A	T	11: 49,524,134	H137L	possibly damaging	Het
Olfr1442	C	T	19: 12,674,757	T184I	probably benign	Het
Olfr686	A	T	7: 105,203,659	M228K	probably benign	Het
Olr1	T	C	6: 129,488,906	S46G	possibly damaging	Het
Parg	C	A	14: 32,202,433	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,195,715		probably benign	Het
Ripk4	A	G	16: 97,743,561	C629R	probably benign	Het
Rnf145	A	G	11: 44,564,151	T620A	probably benign	Het
Samd9l	T	G	6: 3,376,031	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,327,951		probably benign	Het
Slc19a1	T	C	10: 77,042,165	I178T	probably benign	Het
Slco1b2	A	T	6: 141,671,111	Y390F	probably benign	Het
Speg	A	G	1: 75,385,032	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,264,837		probably benign	Het
Tmem131l	G	A	3: 83,940,587	Q324*	probably null	Het
Trf	A	G	9: 103,226,956		probably benign	Het
Trp53	T	G	11: 69,588,679	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,253,272	M618K	probably damaging	Het
Trrap	C	A	5: 144,822,761	Y2250*	probably null	Het
Ttc3	A	G	16: 94,385,322		probably benign	Het
Ubtfl1	T	G	9: 18,409,787	S204A	probably benign	Het
Uck2	A	T	1: 167,227,771	Y203N	probably damaging	Het
Utrn	A	T	10: 12,686,465	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,894,184	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,471,635	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,843,125	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,243,604	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,136,891	S17C	probably damaging	Het
Zfp811	C	T	17: 32,797,764	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,814,863		probably benign	Het

Other mutations in Ccdc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Ccdc18	APN	5	108180525	missense	probably benign	0.01
IGL01380:Ccdc18	APN	5	108180887	missense	probably damaging	0.96
IGL01405:Ccdc18	APN	5	108202186	splice site	probably benign
IGL01718:Ccdc18	APN	5	108201348	missense	possibly damaging	0.81
IGL02098:Ccdc18	APN	5	108202111	missense	probably damaging	1.00
IGL02227:Ccdc18	APN	5	108148922	missense	possibly damaging	0.89
IGL02391:Ccdc18	APN	5	108136052	missense	probably damaging	1.00
IGL02794:Ccdc18	APN	5	108171748	missense	probably benign	0.00
IGL02808:Ccdc18	APN	5	108135969	splice site	probably benign
IGL02880:Ccdc18	APN	5	108135444	missense	probably benign	0.31
IGL03069:Ccdc18	APN	5	108228901	missense	probably damaging	1.00
IGL03390:Ccdc18	APN	5	108212131	missense	probably damaging	1.00
PIT4402001:Ccdc18	UTSW	5	108158619	missense	possibly damaging	0.94
R0004:Ccdc18	UTSW	5	108161700	missense	possibly damaging	0.52
R0295:Ccdc18	UTSW	5	108173789	missense	probably damaging	1.00
R0546:Ccdc18	UTSW	5	108174964	missense	probably benign	0.06
R0619:Ccdc18	UTSW	5	108180416	missense	probably benign	0.04
R0648:Ccdc18	UTSW	5	108135560	missense	probably damaging	0.99
R0648:Ccdc18	UTSW	5	108174987	missense	probably damaging	1.00
R0666:Ccdc18	UTSW	5	108163664	missense	probably benign	0.19
R1271:Ccdc18	UTSW	5	108202116	nonsense	probably null
R1509:Ccdc18	UTSW	5	108188978	missense	possibly damaging	0.89
R1539:Ccdc18	UTSW	5	108191977	missense	probably damaging	1.00
R1542:Ccdc18	UTSW	5	108212188	missense	probably benign
R1663:Ccdc18	UTSW	5	108216090	missense	probably damaging	1.00
R1865:Ccdc18	UTSW	5	108193802	missense	probably benign	0.00
R1870:Ccdc18	UTSW	5	108220837	missense	possibly damaging	0.90
R1897:Ccdc18	UTSW	5	108196042	missense	probably benign	0.00
R1946:Ccdc18	UTSW	5	108228995	missense	probably damaging	1.00
R2420:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R2421:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R2422:Ccdc18	UTSW	5	108228588	missense	probably damaging	0.96
R4078:Ccdc18	UTSW	5	108158528	nonsense	probably null
R4079:Ccdc18	UTSW	5	108158528	nonsense	probably null
R4244:Ccdc18	UTSW	5	108148972	nonsense	probably null
R4409:Ccdc18	UTSW	5	108220842	nonsense	probably null
R4428:Ccdc18	UTSW	5	108136077	missense	probably benign	0.01
R4455:Ccdc18	UTSW	5	108161529	missense	possibly damaging	0.68
R4499:Ccdc18	UTSW	5	108228960	missense	possibly damaging	0.62
R4612:Ccdc18	UTSW	5	108135441	missense	probably benign	0.01
R4907:Ccdc18	UTSW	5	108136141	missense	probably benign	0.01
R4972:Ccdc18	UTSW	5	108192003	missense	probably benign
R5039:Ccdc18	UTSW	5	108158648	critical splice donor site	probably null
R5835:Ccdc18	UTSW	5	108140874	missense	possibly damaging	0.94
R5854:Ccdc18	UTSW	5	108206728	missense	possibly damaging	0.79
R6128:Ccdc18	UTSW	5	108163759	missense	possibly damaging	0.76
R6229:Ccdc18	UTSW	5	108171618	missense	probably benign	0.00
R6271:Ccdc18	UTSW	5	108174887	missense	possibly damaging	0.65
R6315:Ccdc18	UTSW	5	108161582	missense	probably benign
R6359:Ccdc18	UTSW	5	108135525	missense	probably damaging	1.00
R6375:Ccdc18	UTSW	5	108174954	missense	possibly damaging	0.79
R6388:Ccdc18	UTSW	5	108201348	missense	possibly damaging	0.81
R6415:Ccdc18	UTSW	5	108161746	missense	probably benign	0.03
R6560:Ccdc18	UTSW	5	108191924	missense	probably benign	0.09
R6645:Ccdc18	UTSW	5	108138930	missense	probably benign
R6664:Ccdc18	UTSW	5	108168100	nonsense	probably null
R6836:Ccdc18	UTSW	5	108197967	missense	probably damaging	1.00
R6947:Ccdc18	UTSW	5	108161535	missense	probably benign	0.26
R7009:Ccdc18	UTSW	5	108173862	critical splice donor site	probably null
R7052:Ccdc18	UTSW	5	108161688	missense	probably benign	0.15
R7058:Ccdc18	UTSW	5	108193798	missense	probably benign
R7087:Ccdc18	UTSW	5	108196122	missense	probably benign
R7117:Ccdc18	UTSW	5	108148969	missense	possibly damaging	0.95
R7176:Ccdc18	UTSW	5	108168106	missense	probably benign
R7382:Ccdc18	UTSW	5	108139007	missense	probably damaging	1.00
R7477:Ccdc18	UTSW	5	108220850	missense	probably damaging	0.98
R7493:Ccdc18	UTSW	5	108206617	nonsense	probably null
R7506:Ccdc18	UTSW	5	108163739	missense	possibly damaging	0.85
R7635:Ccdc18	UTSW	5	108229049	critical splice donor site	probably null
R7690:Ccdc18	UTSW	5	108228662	missense	probably benign	0.00
R7748:Ccdc18	UTSW	5	108149041	critical splice donor site	probably null
R7812:Ccdc18	UTSW	5	108180833	missense	probably benign	0.00
R8019:Ccdc18	UTSW	5	108228645	nonsense	probably null
RF013:Ccdc18	UTSW	5	108220716	missense	probably benign	0.05
X0024:Ccdc18	UTSW	5	108191922	missense	probably benign	0.01
X0063:Ccdc18	UTSW	5	108212197	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- cctggctACCAGCCTAGTTTTCAAG -3'
(R):5'- GACCAGAGAAGAGACTCTCTCCAACA -3'

Sequencing Primer
(F):5'- CACAATATAGCCTAAGT -3'
(R):5'- atccaatttcaaacactaaaaggaac -3'

Posted On

2013-04-11