Mutagenetix > Incidental Mutation

Incidental Mutation 'R8177:Ccdc18'

634402

Institutional Source

Beutler Lab

Gene Symbol

Ccdc18

Ensembl Gene

ENSMUSG00000056531

Gene Name

coiled-coil domain containing 18

Synonyms

4932411G06Rik, 1700021E15Rik

MMRRC Submission

067602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108132875-108233628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108197795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 936 (E936K)

Ref Sequence

ENSEMBL: ENSMUSP00000036507 (fasta)

Gene Model

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

AlphaFold

Q640L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047677
AA Change: E936K

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: E936K

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: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,564	Y127*	probably null	Het
Abcb5	C	T	12: 118,872,790	V1129I	possibly damaging	Het
Abcc2	A	G	19: 43,807,080	D425G	probably damaging	Het
Adamts15	T	A	9: 30,922,026	D71V	probably damaging	Het
Add1	A	G	5: 34,616,705	H435R	possibly damaging	Het
AI464131	G	T	4: 41,497,568	Y687*	probably null	Het
Akr1c19	A	G	13: 4,242,592	N204S	probably benign	Het
Ankub1	C	A	3: 57,690,416	R44S	possibly damaging	Het
Ano3	T	A	2: 110,666,456	N783Y	probably damaging	Het
Bbs9	A	G	9: 22,514,063	M138V	probably benign	Het
Cit	T	G	5: 115,988,159	L1604V	probably benign	Het
Col2a1	T	A	15: 97,976,773	S1396C	unknown	Het
Col3a1	G	C	1: 45,335,764	G653R	unknown	Het
Col6a1	T	C	10: 76,725,029	E45G	probably damaging	Het
Col9a3	T	A	2: 180,607,657	F271I	probably damaging	Het
Cyp2g1	C	A	7: 26,819,153	D364E	probably damaging	Het
Dmbt1	T	A	7: 131,106,432	V1457D	possibly damaging	Het
Dnah17	A	T	11: 118,128,927	I98N	possibly damaging	Het
Dyrk1b	T	A	7: 28,183,176	M222K	possibly damaging	Het
Epha8	T	C	4: 136,945,663	D270G	probably benign	Het
Fbxw17	T	C	13: 50,425,624	L159P	probably damaging	Het
Fgl2	G	A	5: 21,373,309		probably null	Het
Fmnl1	A	T	11: 103,189,959	M309L	probably damaging	Het
Fn1	T	C	1: 71,609,587	I1479V	probably benign	Het
Gm11939	A	T	11: 99,559,298	S57T	possibly damaging	Het
Gm5415	T	C	1: 32,546,376	E151G	probably benign	Het
Gm9195	C	T	14: 72,460,537	A1268T	possibly damaging	Het
Gnpda1	A	G	18: 38,333,295	W90R	possibly damaging	Het
Igkv5-43	T	A	6: 69,823,461	R81W	probably damaging	Het
Mapk3	T	A	7: 126,763,765	W230R	probably null	Het
Mplkip	A	G	13: 17,695,620	S46G	probably benign	Het
Mrs2	T	C	13: 25,004,978	T118A	probably benign	Het
Mst1r	T	A	9: 107,907,585	H147Q	probably damaging	Het
Muc5ac	G	C	7: 141,807,331	G1460R	probably damaging	Het
Naip1	T	C	13: 100,427,403	H418R	probably benign	Het
Ncapg	A	G	5: 45,693,753	T763A	probably benign	Het
Nr6a1	T	C	2: 38,729,498	I462V	probably benign	Het
Nudcd3	T	C	11: 6,193,460	D70G	possibly damaging	Het
Nup210	A	G	6: 91,014,488	S1858P	probably benign	Het
Olfr1080	T	A	2: 86,553,279	I282F	noncoding transcript	Het
Olfr1110	C	A	2: 87,135,950	V124L	possibly damaging	Het
Olfr1148	T	A	2: 87,833,168	I43N	probably benign	Het
Olfr2	G	C	7: 107,001,456	L135V	probably damaging	Het
Olfr775	A	G	10: 129,250,921	H129R	probably benign	Het
Pde4dip	T	C	3: 97,767,532	T23A	probably damaging	Het
Pex6	A	G	17: 46,714,062	Q347R	probably benign	Het
Rbm27	A	G	18: 42,324,110	K694R	probably damaging	Het
Rnf40	T	G	7: 127,596,150	D549E	probably benign	Het
Rpl22	A	G	4: 152,327,511	K15E	probably damaging	Het
Rsph6a	T	A	7: 19,074,239	D697E	unknown	Het
Sec23b	C	T	2: 144,585,623	P590L	probably benign	Het
Slc17a7	T	A	7: 45,174,932	M524K	probably benign	Het
Slc28a1	G	A	7: 81,164,416	D454N	probably benign	Het
Slc6a13	C	T	6: 121,325,028	R190*	probably null	Het
Slc7a9	G	A	7: 35,456,133	V257I	probably benign	Het
Slco1a6	T	A	6: 142,101,734	M377L	probably damaging	Het
Slit3	A	G	11: 35,579,092	E307G	probably damaging	Het
Smchd1	A	G	17: 71,390,453	M1164T	probably benign	Het
Stk4	T	C	2: 164,088,857	I126T	probably damaging	Het
Syndig1	A	T	2: 149,899,868	S125C	probably damaging	Het
Synm	T	C	7: 67,734,065	D1283G	probably benign	Het
Tmprss6	T	C	15: 78,465,127	M73V	probably benign	Het
Tmprss9	A	G	10: 80,895,048	I803V	probably benign	Het
Tmx4	A	T	2: 134,643,902	V35E	probably damaging	Het
Topbp1	T	G	9: 103,320,541	S440A	probably benign	Het
Twf1	T	C	15: 94,584,395	I157V	possibly damaging	Het
Vmn1r205	T	C	13: 22,592,245	N229S	probably benign	Het
Vmn1r27	T	A	6: 58,215,774	I82L	probably benign	Het
Vmn2r112	A	G	17: 22,603,613	N424S	possibly damaging	Het
Vmn2r68	A	T	7: 85,222,214	Y620*	probably null	Het
Zfp51	A	G	17: 21,463,867	D248G	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
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
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
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
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

PCR Primer
(F):5'- CATGCTCATGTGATTATGCGC -3'
(R):5'- GTTCAGCAGTGAGATCCTTTATTG -3'

Sequencing Primer
(F):5'- GGCTAACTGGGCAATGAACTCC -3'
(R):5'- CAGCAGTGAGATCCTTTATTGTAGTG -3'

Posted On

2020-07-13