Mutagenetix > Incidental Mutations

Incidental Mutation 'R1263:Ccdc180'

151646

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

E230008N13Rik, LOC381522

MMRRC Submission

039330-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45903887 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 351 (E351G)

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178561]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127261

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: E343G

Domain	Start	End	E-Value	Type
low complexity region	25	42	N/A	INTRINSIC
coiled coil region	90	117	N/A	INTRINSIC
Pfam:DUF4455	141	609	2e-189	PFAM
low complexity region	628	642	N/A	INTRINSIC
low complexity region	658	675	N/A	INTRINSIC
coiled coil region	710	780	N/A	INTRINSIC
coiled coil region	945	979	N/A	INTRINSIC
low complexity region	1100	1123	N/A	INTRINSIC
Pfam:DUF4456	1169	1372	9.5e-77	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178561
AA Change: E351G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: E351G

Domain	Start	End	E-Value	Type
low complexity region	32	49	N/A	INTRINSIC
coiled coil region	98	125	N/A	INTRINSIC
Pfam:DUF4455	148	616	7.3e-189	PFAM
low complexity region	635	649	N/A	INTRINSIC
low complexity region	665	682	N/A	INTRINSIC
coiled coil region	718	788	N/A	INTRINSIC
coiled coil region	1121	1155	N/A	INTRINSIC
low complexity region	1275	1298	N/A	INTRINSIC
Pfam:DUF4456	1344	1547	2.2e-76	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,620,278	Y207*	probably null	Het
Abca8b	A	C	11: 109,941,607	H1231Q	possibly damaging	Het
Acbd4	T	A	11: 103,103,851		probably null	Het
Atp13a4	T	A	16: 29,471,953	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,462,522	F132C	probably damaging	Het
Btaf1	A	T	19: 36,956,524	N184I	probably benign	Het
Ccdc185	A	T	1: 182,747,353	Y590*	probably null	Het
Chil1	G	A	1: 134,189,242	E315K	probably benign	Het
Col6a6	T	A	9: 105,709,489	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,104,711	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,574,711	T396A	probably benign	Het
Dnah6	A	T	6: 73,144,965	I1373N	probably damaging	Het
Dopey2	C	A	16: 93,777,386	H1598N	probably benign	Het
Erich4	T	A	7: 25,615,134	K118M	probably damaging	Het
Gkap1	A	T	13: 58,255,773	V179E	probably benign	Het
Gpr107	T	G	2: 31,178,255	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,758,530	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,479,378	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,676,966	H266Q	probably benign	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,682,968	T423A	probably benign	Het
Mical3	T	C	6: 120,952,469	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 71,097,122	I1174T	probably benign	Het
Npas2	C	A	1: 39,334,768	Q450K	possibly damaging	Het
Nrp1	T	A	8: 128,468,389	I442N	probably damaging	Het
Olfr1385	A	T	11: 49,495,021	M163L	probably benign	Het
Olfr338	T	A	2: 36,376,994	S73T	probably damaging	Het
Palld	TGCGTAGCG	TGCG	8: 61,513,457		probably null	Het
Pih1d3	A	T	1: 31,223,215	I93F	probably damaging	Het
Pold3	T	A	7: 100,119,683	Q36L	possibly damaging	Het
Polg	T	C	7: 79,459,786	T428A	probably benign	Het
Rfx7	T	A	9: 72,577,047	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,112,149	M1R	probably null	Het
Scn10a	T	A	9: 119,617,733	T1410S	probably damaging	Het
Serpinb13	T	A	1: 107,000,736	V362E	probably damaging	Het
Setdb1	T	C	3: 95,327,611	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,320,638	K91R	probably benign	Het
Shprh	A	G	10: 11,159,530	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,336,395	H478Q	probably benign	Het
Styxl1	G	T	5: 135,753,883	S117R	probably damaging	Het
Synj2	T	C	17: 6,019,359	F150L	probably damaging	Het
Tep1	C	A	14: 50,845,513	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,630,655	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,666,870	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,622,562	I115F	possibly damaging	Het
Trim38	A	G	13: 23,791,134	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,207,321	V44D	probably benign	Het
Vars2	A	G	17: 35,661,609	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,208,322	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,050,708	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,581,606	Y762C	probably benign	Het
Vps13d	T	A	4: 145,170,348	Q334L	probably benign	Het
Zfp277	A	T	12: 40,364,165	I227N	probably damaging	Het

Other mutations in Ccdc180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Ccdc180	APN	4	45900256	missense	probably benign
IGL01713:Ccdc180	APN	4	45921025	critical splice donor site	probably null
IGL01915:Ccdc180	APN	4	45904544	missense	probably damaging	0.98
IGL01935:Ccdc180	APN	4	45906889	missense	possibly damaging	0.71
IGL02539:Ccdc180	APN	4	45921005	missense	probably damaging	1.00
IGL02982:Ccdc180	APN	4	45903840	splice site	probably benign
IGL03071:Ccdc180	APN	4	45903840	splice site	probably benign
IGL03146:Ccdc180	APN	4	45903840	splice site	probably benign
PIT4687001:Ccdc180	UTSW	4	45949526	missense	probably damaging	1.00
R0049:Ccdc180	UTSW	4	45930119	critical splice acceptor site	probably null
R0049:Ccdc180	UTSW	4	45930119	critical splice acceptor site	probably null
R0054:Ccdc180	UTSW	4	45890900	missense	probably benign	0.01
R0054:Ccdc180	UTSW	4	45890900	missense	probably benign	0.01
R0080:Ccdc180	UTSW	4	45896205	missense	probably null	0.00
R0082:Ccdc180	UTSW	4	45896205	missense	probably null	0.00
R0126:Ccdc180	UTSW	4	45912866	critical splice donor site	probably null
R0193:Ccdc180	UTSW	4	45914803	missense	probably benign	0.01
R0276:Ccdc180	UTSW	4	45923534	missense	probably damaging	1.00
R0362:Ccdc180	UTSW	4	45923551	missense	probably damaging	1.00
R0380:Ccdc180	UTSW	4	45930197	critical splice donor site	probably null
R0468:Ccdc180	UTSW	4	45923271	missense	possibly damaging	0.87
R0539:Ccdc180	UTSW	4	45922010	missense	probably damaging	0.97
R0543:Ccdc180	UTSW	4	45900041	nonsense	probably null
R0546:Ccdc180	UTSW	4	45904597	missense	possibly damaging	0.71
R0612:Ccdc180	UTSW	4	45927969	missense	probably damaging	0.98
R0792:Ccdc180	UTSW	4	45927975	missense	possibly damaging	0.92
R1056:Ccdc180	UTSW	4	45916375	missense	probably benign	0.01
R1099:Ccdc180	UTSW	4	45914225	missense	probably benign	0.03
R1136:Ccdc180	UTSW	4	45914589	missense	probably benign	0.00
R1331:Ccdc180	UTSW	4	45909359	missense	possibly damaging	0.51
R1522:Ccdc180	UTSW	4	45927975	missense	possibly damaging	0.92
R1819:Ccdc180	UTSW	4	45926195	missense	possibly damaging	0.84
R2022:Ccdc180	UTSW	4	45944418	missense	probably benign	0.18
R2056:Ccdc180	UTSW	4	45932477	missense	probably benign	0.03
R2219:Ccdc180	UTSW	4	45944949	missense	probably damaging	1.00
R2228:Ccdc180	UTSW	4	45948856	critical splice donor site	probably null
R2229:Ccdc180	UTSW	4	45948856	critical splice donor site	probably null
R2255:Ccdc180	UTSW	4	45921996	missense	probably damaging	1.00
R2427:Ccdc180	UTSW	4	45929545	missense	probably benign	0.03
R3001:Ccdc180	UTSW	4	45899988	missense	probably benign
R3002:Ccdc180	UTSW	4	45899988	missense	probably benign
R3003:Ccdc180	UTSW	4	45899988	missense	probably benign
R3110:Ccdc180	UTSW	4	45900470	missense	possibly damaging	0.86
R3111:Ccdc180	UTSW	4	45900470	missense	possibly damaging	0.86
R3112:Ccdc180	UTSW	4	45900470	missense	possibly damaging	0.86
R3898:Ccdc180	UTSW	4	45912799	missense	possibly damaging	0.71
R4022:Ccdc180	UTSW	4	45904560	nonsense	probably null
R4084:Ccdc180	UTSW	4	45950632	missense	probably benign	0.19
R4377:Ccdc180	UTSW	4	45941877	missense	probably damaging	1.00
R4595:Ccdc180	UTSW	4	45945023	missense	probably damaging	0.98
R4637:Ccdc180	UTSW	4	45914443	missense	probably benign
R4811:Ccdc180	UTSW	4	45928020	missense	probably damaging	1.00
R4825:Ccdc180	UTSW	4	45912794	missense	possibly damaging	0.93
R4858:Ccdc180	UTSW	4	45923244	missense	probably damaging	1.00
R4888:Ccdc180	UTSW	4	45909308	missense	probably damaging	0.98
R4940:Ccdc180	UTSW	4	45917453	missense	probably damaging	0.96
R4940:Ccdc180	UTSW	4	45917508	missense	probably damaging	1.00
R5042:Ccdc180	UTSW	4	45916255	missense	probably damaging	0.98
R5119:Ccdc180	UTSW	4	45914603	missense	possibly damaging	0.72
R5177:Ccdc180	UTSW	4	45917508	missense	probably damaging	1.00
R5311:Ccdc180	UTSW	4	45917556	missense	probably damaging	1.00
R5333:Ccdc180	UTSW	4	45890935	missense	possibly damaging	0.53
R5448:Ccdc180	UTSW	4	45920913	missense	probably damaging	1.00
R5510:Ccdc180	UTSW	4	45928046	missense	probably damaging	0.96
R6018:Ccdc180	UTSW	4	45926235	missense	probably damaging	1.00
R6108:Ccdc180	UTSW	4	45911389	missense	possibly damaging	0.71
R6283:Ccdc180	UTSW	4	45902486	missense	possibly damaging	0.85
R6483:Ccdc180	UTSW	4	45921950	missense	probably benign	0.32
R6618:Ccdc180	UTSW	4	45950708	missense	probably damaging	1.00
R7017:Ccdc180	UTSW	4	45940934	missense	possibly damaging	0.84
R7205:Ccdc180	UTSW	4	45914588	missense	probably benign
R7341:Ccdc180	UTSW	4	45898644	missense	possibly damaging	0.85
R7351:Ccdc180	UTSW	4	45903887	missense	possibly damaging	0.85
R7418:Ccdc180	UTSW	4	45904616	missense	probably damaging	0.98
R7492:Ccdc180	UTSW	4	45930009	splice site	probably null
R7573:Ccdc180	UTSW	4	45922015	missense	probably benign	0.33
R7639:Ccdc180	UTSW	4	45928043	missense	possibly damaging	0.93
R7792:Ccdc180	UTSW	4	45890389	critical splice donor site	probably null
R7806:Ccdc180	UTSW	4	45912801	missense	possibly damaging	0.85
R7812:Ccdc180	UTSW	4	45906952	critical splice donor site	probably null
R7840:Ccdc180	UTSW	4	45900461	missense	possibly damaging	0.71
R7842:Ccdc180	UTSW	4	45909428	missense	probably benign	0.00
R7923:Ccdc180	UTSW	4	45900461	missense	possibly damaging	0.71
R7925:Ccdc180	UTSW	4	45909428	missense	probably benign	0.00
X0017:Ccdc180	UTSW	4	45909350	missense	possibly damaging	0.86
Z1176:Ccdc180	UTSW	4	45916406	missense	probably damaging	1.00
Z1176:Ccdc180	UTSW	4	45920910	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGACTCCATGACATCTGAGGC -3'
(R):5'- CACAGCAAGTGACCTATGACCTTCC -3'

Sequencing Primer
(F):5'- AGAGATGCTTTGCAGTTCTTCC -3'
(R):5'- TCTAGCACCAGGAGATAGCC -3'

Posted On

2014-01-29