Mutagenetix > Incidental Mutation

Incidental Mutation 'R0666:Ccdc18'

62012

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

MMRRC Submission

038851-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0666 (G1)

Quality Score

102

Status

Validated

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108163664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 412 (V412G)

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: V412G

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: V412G

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	G	11: 78,287,987	M2026R	probably damaging	Het
2610507B11Rik	T	A	11: 78,277,212	L1491*	probably null	Het
Akap6	T	A	12: 52,911,808	V782E	probably damaging	Het
Atg9a	A	G	1: 75,185,090	L604P	probably damaging	Het
Atp1a3	T	C	7: 24,990,549	I482V	probably benign	Het
Ccdc105	C	A	10: 78,750,547	L223F	probably benign	Het
Cct6a	A	G	5: 129,794,386		noncoding transcript	Het
Clpx	A	G	9: 65,310,225	N25S	probably damaging	Het
Cnpy2	T	A	10: 128,327,025	C171*	probably null	Het
Cntnap3	C	T	13: 64,757,397	D857N	probably damaging	Het
Col5a1	A	G	2: 28,032,685	Y255C	probably damaging	Het
Coro7	A	T	16: 4,631,911	F638Y	possibly damaging	Het
Cpd	A	G	11: 76,782,327	F1331L	probably damaging	Het
Csmd1	A	T	8: 16,069,049	I1842N	possibly damaging	Het
Dgkg	T	A	16: 22,562,730	D490V	probably damaging	Het
Dnah9	A	T	11: 66,085,458	M1255K	probably benign	Het
E2f1	A	G	2: 154,560,929	V306A	probably benign	Het
Entpd1	A	G	19: 40,659,906		probably benign	Het
Esrrb	T	A	12: 86,505,902	I222N	probably benign	Het
Fam159b	G	T	13: 104,858,354	T95K	possibly damaging	Het
Flt4	G	T	11: 49,625,447	A126S	possibly damaging	Het
Galnt11	C	T	5: 25,252,147	T237I	possibly damaging	Het
Gbf1	A	G	19: 46,262,544		probably benign	Het
Gm20388	A	T	8: 122,270,988		probably benign	Het
Gm7030	T	C	17: 36,127,834	T222A	possibly damaging	Het
Herc1	T	A	9: 66,484,888		probably benign	Het
Hsph1	T	C	5: 149,631,502	Y105C	probably damaging	Het
Il23r	T	C	6: 67,434,680	T358A	probably benign	Het
Il2ra	C	T	2: 11,643,073		probably benign	Het
Kbtbd4	G	T	2: 90,914,115		probably benign	Het
Kcnt1	A	G	2: 25,891,243		probably benign	Het
Kng2	A	G	16: 22,997,122		probably benign	Het
Lap3	C	T	5: 45,511,928	T473I	possibly damaging	Het
Lrrk2	T	C	15: 91,757,070		probably null	Het
Map1s	A	G	8: 70,914,052	N534D	possibly damaging	Het
Mtg1	G	A	7: 140,144,344	V122I	probably benign	Het
Myadm	T	A	7: 3,297,349	I209K	probably damaging	Het
Ntsr2	G	A	12: 16,653,980	V75I	probably benign	Het
Olfr1037	G	A	2: 86,085,213	A188V	probably benign	Het
Olfr1272	A	T	2: 90,281,868	S236T	probably damaging	Het
Pfn1	T	C	11: 70,654,366	T39A	probably benign	Het
Pipox	T	A	11: 77,883,825	K144M	probably benign	Het
Plekhh1	G	A	12: 79,069,115	E811K	probably damaging	Het
Pnpla3	T	A	15: 84,179,305	W295R	probably benign	Het
Prkacb	T	A	3: 146,751,518	T136S	probably damaging	Het
Ralbp1	T	A	17: 65,854,129	N473I	probably benign	Het
Rbp4	G	A	19: 38,118,460	T127M	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rps3a1	G	A	3: 86,138,117		probably benign	Het
Scg3	G	T	9: 75,643,940	Y429*	probably null	Het
Spag5	T	C	11: 78,313,396	S492P	probably damaging	Het
St7	T	A	6: 17,934,239	M540K	probably damaging	Het
Stxbp3	C	A	3: 108,805,302	V281F	possibly damaging	Het
Sun5	A	G	2: 153,859,048	V242A	possibly damaging	Het
Susd5	G	T	9: 114,095,784	R245L	possibly damaging	Het
Syne2	A	G	12: 75,923,013	E954G	probably damaging	Het
Synpo2	A	T	3: 123,114,059	V536E	probably damaging	Het
Tas2r140	T	C	6: 133,055,442	I118V	probably benign	Het
Tbx18	C	A	9: 87,724,409	V228L	probably benign	Het
Tdrd9	T	A	12: 112,007,580		probably benign	Het
Tg	T	C	15: 66,737,521	M310T	probably benign	Het
Ticam2	T	A	18: 46,560,651	D123V	probably damaging	Het
Timm23	A	G	14: 32,199,036		probably benign	Het
Tinag	C	T	9: 77,005,687	R280H	probably benign	Het
Topbp1	G	A	9: 103,308,812	R51K	probably benign	Het
Tor1b	A	G	2: 30,953,913	I121V	probably damaging	Het
Tpmt	C	A	13: 47,032,454	G148V	probably damaging	Het
Tubb1	A	G	2: 174,457,755	E410G	probably damaging	Het
Ubash3b	C	A	9: 41,047,064	V7L	possibly damaging	Het
Ube2o	C	T	11: 116,542,835	E686K	probably damaging	Het
Unc13d	T	A	11: 116,069,492		probably benign	Het
Vmn1r183	A	T	7: 24,055,176	M135L	probably benign	Het
Wisp3	T	C	10: 39,151,289	R316G	probably benign	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Zc3h4	T	A	7: 16,434,772	N935K	unknown	Het
Zc3h7a	G	A	16: 11,156,303		probably benign	Het
Zfp84	C	T	7: 29,776,851	H323Y	probably damaging	Het
Zfp873	G	T	10: 82,060,761	S442I	possibly damaging	Het
Zfp938	A	G	10: 82,225,772	L338P	probably damaging	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
R0112:Ccdc18	UTSW	5	108173761	missense	probably damaging	1.00
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
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
R8017:Ccdc18	UTSW	5	108228645	nonsense	probably null
R8019:Ccdc18	UTSW	5	108228645	nonsense	probably null
R8172:Ccdc18	UTSW	5	108163774	critical splice donor site	probably null
R8177:Ccdc18	UTSW	5	108197795	missense	possibly damaging	0.65
R8344:Ccdc18	UTSW	5	108161503	missense	possibly damaging	0.88
R8351:Ccdc18	UTSW	5	108155797	missense	probably damaging	1.00
R8415:Ccdc18	UTSW	5	108216033	missense	probably damaging	1.00
R8451:Ccdc18	UTSW	5	108155797	missense	probably damaging	1.00
R8547:Ccdc18	UTSW	5	108197859	missense	probably damaging	1.00
R8725:Ccdc18	UTSW	5	108180417	missense	possibly damaging	0.66
R9137:Ccdc18	UTSW	5	108148990	missense	probably damaging	0.98
R9391:Ccdc18	UTSW	5	108228904	missense	probably benign	0.02
R9418:Ccdc18	UTSW	5	108155803	missense	probably damaging	1.00
R9536:Ccdc18	UTSW	5	108138926	missense	probably benign	0.01
R9565:Ccdc18	UTSW	5	108191934	missense	probably damaging	0.99
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

Posted On

2013-07-30