Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02982:Ccdc180'

406608

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

E230008N13Rik, LOC381522

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 45903840 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127261

Predicted Effect

probably benign
Transcript: ENSMUST00000149903

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539

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

probably benign
Transcript: ENSMUST00000178561

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	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
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
R1263:Ccdc180	UTSW	4	45903887	missense	possibly damaging	0.85
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
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

Posted On

2016-08-02