Mutagenetix > Incidental Mutations

Incidental Mutation 'R3112:Ccdc180'

477853

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

E230008N13Rik, LOC381522

MMRRC Submission

040585-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45900470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 278 (I278K)

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

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

AlphaFold

J3QNE4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127261

Predicted Effect

unknown
Transcript: ENSMUST00000149903
AA Change: I270K

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: I270K

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: I278K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: I278K

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

Meta Mutation Damage Score

0.3312

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Atp1a3	T	C	7: 24,994,694	N345S	probably damaging	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	possibly 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
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
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
R8712:Ccdc180	UTSW	4	45920842	critical splice acceptor site	probably null
R8818:Ccdc180	UTSW	4	45900484	missense	probably benign	0.02
R8961:Ccdc180	UTSW	4	45929573	missense	possibly damaging	0.74
R8983:Ccdc180	UTSW	4	45909359	missense	possibly damaging	0.93
R9035:Ccdc180	UTSW	4	45906922	nonsense	probably null
R9095:Ccdc180	UTSW	4	45949466	nonsense	probably null
R9240:Ccdc180	UTSW	4	45917566	critical splice donor site	probably null
R9293:Ccdc180	UTSW	4	45944461	missense	probably damaging	1.00
R9328:Ccdc180	UTSW	4	45902447	missense	possibly damaging	0.71
R9346:Ccdc180	UTSW	4	45927953	missense	probably benign	0.09
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

Posted On

2017-05-15