Mutagenetix > Incidental Mutation

Incidental Mutation 'R2228:Ccdc180'

239837

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

LOC381522, E230008N13Rik

MMRRC Submission

040229-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 45948856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

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

AlphaFold

J3QNE4

Predicted Effect

probably null
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 null
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

Meta Mutation Damage Score

0.9487

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,559,935 (GRCm39)	T242A	probably benign	Het
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Aldh3b2	C	T	19: 4,031,133 (GRCm39)	P461S	probably benign	Het
Araf	T	C	X: 20,717,912 (GRCm39)	F144L	probably benign	Het
Atp11b	G	T	3: 35,861,091 (GRCm39)	D193Y	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Bclaf1	T	A	10: 20,215,624 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,465,935 (GRCm38)	Y987H	probably benign	Het
Capn6	T	G	X: 142,587,785 (GRCm39)	T498P	possibly damaging	Het
Ccdc153	T	A	9: 44,154,314 (GRCm39)	L47Q	probably damaging	Het
Cep162	G	T	9: 87,126,384 (GRCm39)	T176K	probably benign	Het
Cpsf2	A	G	12: 101,956,088 (GRCm39)	D297G	probably benign	Het
Entpd8	T	C	2: 24,975,028 (GRCm39)	M453T	probably damaging	Het
Eprs1	T	A	1: 185,099,734 (GRCm39)	L18Q	probably damaging	Het
Fem1b	G	T	9: 62,704,020 (GRCm39)	C413*	probably null	Het
Flrt1	T	A	19: 7,072,723 (GRCm39)	D608V	probably damaging	Het
Fstl5	C	A	3: 76,389,659 (GRCm39)	N285K	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Hivep2	A	G	10: 14,004,107 (GRCm39)	H235R	probably damaging	Het
Htr2c	G	C	X: 145,977,186 (GRCm39)	W325C	probably damaging	Het
Htr2c	G	T	X: 145,977,188 (GRCm39)	C326F	probably damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Macroh2a1	C	T	13: 56,232,075 (GRCm39)	G235S	probably damaging	Het
Mcm8	T	A	2: 132,662,041 (GRCm39)	I125K	possibly damaging	Het
Micall1	C	T	15: 79,014,036 (GRCm39)	R644W	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo9a	A	G	9: 59,801,463 (GRCm39)	E1887G	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Neb	T	C	2: 52,123,007 (GRCm39)	R3734G	probably benign	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Or5bw2	A	T	7: 6,573,802 (GRCm39)	M271L	probably benign	Het
P2ry4	A	G	X: 99,637,553 (GRCm39)	L115P	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r26	T	C	2: 28,343,798 (GRCm39)	F1143L	possibly damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Ptafr	T	G	4: 132,306,691 (GRCm39)	I27R	possibly damaging	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Reln	A	G	5: 22,192,076 (GRCm39)	F1455L	possibly damaging	Het
Rufy1	C	T	11: 50,288,611 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,376,910 (GRCm39)	H117R	probably benign	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Sipa1l3	T	A	7: 29,077,364 (GRCm39)	K803*	probably null	Het
Smim23	C	A	11: 32,771,870 (GRCm39)	Q65H	probably damaging	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Sppl2b	G	A	10: 80,701,451 (GRCm39)	V389M	probably damaging	Het
Srbd1	T	C	17: 86,292,651 (GRCm39)	I973V	probably damaging	Het
Ssx2ip	C	T	3: 146,123,531 (GRCm39)	P10L	probably damaging	Het
Taf2	A	C	15: 54,928,042 (GRCm39)	D120E	possibly damaging	Het
Tanc1	T	C	2: 59,555,068 (GRCm39)	L42S	probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Tro	A	T	X: 149,438,477 (GRCm39)	M60K	probably benign	Het
Ttc38	G	A	15: 85,728,704 (GRCm39)	V219I	probably benign	Het
U2af2	T	C	7: 5,078,672 (GRCm39)	I417T	probably damaging	Het
Ube2r2	C	T	4: 41,174,044 (GRCm39)	H61Y	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r113	C	T	7: 20,521,832 (GRCm39)	S208F	probably damaging	Het
Wdr35	A	G	12: 9,024,955 (GRCm39)	K16E	possibly damaging	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc4	A	C	5: 143,306,162 (GRCm39)	W189G	probably damaging	Het
Zfp512	A	T	5: 31,622,919 (GRCm39)	K73N	probably damaging	Het

Other mutations in Ccdc180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Ccdc180	APN	4	45,900,256 (GRCm39)	missense	probably benign
IGL01713:Ccdc180	APN	4	45,921,025 (GRCm39)	critical splice donor site	probably null
IGL01915:Ccdc180	APN	4	45,904,544 (GRCm39)	missense	probably damaging	0.98
IGL01935:Ccdc180	APN	4	45,906,889 (GRCm39)	missense	possibly damaging	0.71
IGL02539:Ccdc180	APN	4	45,921,005 (GRCm39)	missense	probably damaging	1.00
IGL02982:Ccdc180	APN	4	45,903,840 (GRCm39)	splice site	probably benign
IGL03071:Ccdc180	APN	4	45,903,840 (GRCm39)	splice site	probably benign
IGL03146:Ccdc180	APN	4	45,903,840 (GRCm39)	splice site	probably benign
PIT4687001:Ccdc180	UTSW	4	45,949,526 (GRCm39)	missense	probably damaging	1.00
R0049:Ccdc180	UTSW	4	45,930,119 (GRCm39)	critical splice acceptor site	probably null
R0049:Ccdc180	UTSW	4	45,930,119 (GRCm39)	critical splice acceptor site	probably null
R0054:Ccdc180	UTSW	4	45,890,900 (GRCm39)	missense	probably benign	0.01
R0054:Ccdc180	UTSW	4	45,890,900 (GRCm39)	missense	probably benign	0.01
R0080:Ccdc180	UTSW	4	45,896,205 (GRCm39)	missense	probably null	0.00
R0082:Ccdc180	UTSW	4	45,896,205 (GRCm39)	missense	probably null	0.00
R0126:Ccdc180	UTSW	4	45,912,866 (GRCm39)	critical splice donor site	probably null
R0193:Ccdc180	UTSW	4	45,914,803 (GRCm39)	missense	probably benign	0.01
R0276:Ccdc180	UTSW	4	45,923,534 (GRCm39)	missense	probably damaging	1.00
R0362:Ccdc180	UTSW	4	45,923,551 (GRCm39)	missense	probably damaging	1.00
R0380:Ccdc180	UTSW	4	45,930,197 (GRCm39)	critical splice donor site	probably null
R0468:Ccdc180	UTSW	4	45,923,271 (GRCm39)	missense	possibly damaging	0.87
R0539:Ccdc180	UTSW	4	45,922,010 (GRCm39)	missense	probably damaging	0.97
R0543:Ccdc180	UTSW	4	45,900,041 (GRCm39)	nonsense	probably null
R0546:Ccdc180	UTSW	4	45,904,597 (GRCm39)	missense	possibly damaging	0.71
R0612:Ccdc180	UTSW	4	45,927,969 (GRCm39)	missense	probably damaging	0.98
R0792:Ccdc180	UTSW	4	45,927,975 (GRCm39)	missense	possibly damaging	0.92
R1056:Ccdc180	UTSW	4	45,916,375 (GRCm39)	missense	probably benign	0.01
R1099:Ccdc180	UTSW	4	45,914,225 (GRCm39)	missense	probably benign	0.03
R1136:Ccdc180	UTSW	4	45,914,589 (GRCm39)	missense	probably benign	0.00
R1263:Ccdc180	UTSW	4	45,903,887 (GRCm39)	missense	possibly damaging	0.85
R1331:Ccdc180	UTSW	4	45,909,359 (GRCm39)	missense	possibly damaging	0.51
R1522:Ccdc180	UTSW	4	45,927,975 (GRCm39)	missense	possibly damaging	0.92
R1819:Ccdc180	UTSW	4	45,926,195 (GRCm39)	missense	possibly damaging	0.84
R2022:Ccdc180	UTSW	4	45,944,418 (GRCm39)	missense	probably benign	0.18
R2056:Ccdc180	UTSW	4	45,932,477 (GRCm39)	missense	probably benign	0.03
R2219:Ccdc180	UTSW	4	45,944,949 (GRCm39)	missense	probably damaging	1.00
R2229:Ccdc180	UTSW	4	45,948,856 (GRCm39)	critical splice donor site	probably null
R2255:Ccdc180	UTSW	4	45,921,996 (GRCm39)	missense	probably damaging	1.00
R2427:Ccdc180	UTSW	4	45,929,545 (GRCm39)	missense	probably benign	0.03
R3001:Ccdc180	UTSW	4	45,899,988 (GRCm39)	missense	probably benign
R3002:Ccdc180	UTSW	4	45,899,988 (GRCm39)	missense	probably benign
R3003:Ccdc180	UTSW	4	45,899,988 (GRCm39)	missense	probably benign
R3110:Ccdc180	UTSW	4	45,900,470 (GRCm39)	missense	possibly damaging	0.86
R3111:Ccdc180	UTSW	4	45,900,470 (GRCm39)	missense	possibly damaging	0.86
R3112:Ccdc180	UTSW	4	45,900,470 (GRCm39)	missense	possibly damaging	0.86
R3898:Ccdc180	UTSW	4	45,912,799 (GRCm39)	missense	possibly damaging	0.71
R4022:Ccdc180	UTSW	4	45,904,560 (GRCm39)	nonsense	probably null
R4084:Ccdc180	UTSW	4	45,950,632 (GRCm39)	missense	probably benign	0.19
R4377:Ccdc180	UTSW	4	45,941,877 (GRCm39)	missense	probably damaging	1.00
R4595:Ccdc180	UTSW	4	45,945,023 (GRCm39)	missense	probably damaging	0.98
R4637:Ccdc180	UTSW	4	45,914,443 (GRCm39)	missense	probably benign
R4811:Ccdc180	UTSW	4	45,928,020 (GRCm39)	missense	probably damaging	1.00
R4825:Ccdc180	UTSW	4	45,912,794 (GRCm39)	missense	possibly damaging	0.93
R4858:Ccdc180	UTSW	4	45,923,244 (GRCm39)	missense	probably damaging	1.00
R4888:Ccdc180	UTSW	4	45,909,308 (GRCm39)	missense	probably damaging	0.98
R4940:Ccdc180	UTSW	4	45,917,508 (GRCm39)	missense	probably damaging	1.00
R4940:Ccdc180	UTSW	4	45,917,453 (GRCm39)	missense	probably damaging	0.96
R5042:Ccdc180	UTSW	4	45,916,255 (GRCm39)	missense	probably damaging	0.98
R5119:Ccdc180	UTSW	4	45,914,603 (GRCm39)	missense	possibly damaging	0.72
R5177:Ccdc180	UTSW	4	45,917,508 (GRCm39)	missense	probably damaging	1.00
R5311:Ccdc180	UTSW	4	45,917,556 (GRCm39)	missense	probably damaging	1.00
R5333:Ccdc180	UTSW	4	45,890,935 (GRCm39)	missense	possibly damaging	0.53
R5448:Ccdc180	UTSW	4	45,920,913 (GRCm39)	missense	probably damaging	1.00
R5510:Ccdc180	UTSW	4	45,928,046 (GRCm39)	missense	probably damaging	0.96
R6018:Ccdc180	UTSW	4	45,926,235 (GRCm39)	missense	probably damaging	1.00
R6108:Ccdc180	UTSW	4	45,911,389 (GRCm39)	missense	possibly damaging	0.71
R6283:Ccdc180	UTSW	4	45,902,486 (GRCm39)	missense	possibly damaging	0.85
R6483:Ccdc180	UTSW	4	45,921,950 (GRCm39)	missense	probably benign	0.32
R6618:Ccdc180	UTSW	4	45,950,708 (GRCm39)	missense	probably damaging	1.00
R7017:Ccdc180	UTSW	4	45,940,934 (GRCm39)	missense	possibly damaging	0.84
R7205:Ccdc180	UTSW	4	45,914,588 (GRCm39)	missense	probably benign
R7341:Ccdc180	UTSW	4	45,898,644 (GRCm39)	missense	possibly damaging	0.85
R7351:Ccdc180	UTSW	4	45,903,887 (GRCm39)	missense	possibly damaging	0.85
R7418:Ccdc180	UTSW	4	45,904,616 (GRCm39)	missense	probably damaging	0.98
R7492:Ccdc180	UTSW	4	45,930,009 (GRCm39)	splice site	probably null
R7573:Ccdc180	UTSW	4	45,922,015 (GRCm39)	missense	probably benign	0.33
R7639:Ccdc180	UTSW	4	45,928,043 (GRCm39)	missense	possibly damaging	0.93
R7792:Ccdc180	UTSW	4	45,890,389 (GRCm39)	critical splice donor site	probably null
R7806:Ccdc180	UTSW	4	45,912,801 (GRCm39)	missense	possibly damaging	0.85
R7812:Ccdc180	UTSW	4	45,906,952 (GRCm39)	critical splice donor site	probably null
R7840:Ccdc180	UTSW	4	45,900,461 (GRCm39)	missense	possibly damaging	0.71
R7842:Ccdc180	UTSW	4	45,909,428 (GRCm39)	missense	probably benign	0.00
R8712:Ccdc180	UTSW	4	45,920,842 (GRCm39)	critical splice acceptor site	probably null
R8818:Ccdc180	UTSW	4	45,900,484 (GRCm39)	missense	probably benign	0.02
R8961:Ccdc180	UTSW	4	45,929,573 (GRCm39)	missense	possibly damaging	0.74
R8983:Ccdc180	UTSW	4	45,909,359 (GRCm39)	missense	possibly damaging	0.93
R9035:Ccdc180	UTSW	4	45,906,922 (GRCm39)	nonsense	probably null
R9095:Ccdc180	UTSW	4	45,949,466 (GRCm39)	nonsense	probably null
R9240:Ccdc180	UTSW	4	45,917,566 (GRCm39)	critical splice donor site	probably null
R9293:Ccdc180	UTSW	4	45,944,461 (GRCm39)	missense	probably damaging	1.00
R9328:Ccdc180	UTSW	4	45,902,447 (GRCm39)	missense	possibly damaging	0.71
R9346:Ccdc180	UTSW	4	45,927,953 (GRCm39)	missense	probably benign	0.09
R9521:Ccdc180	UTSW	4	45,916,283 (GRCm39)	missense	probably null	0.50
R9653:Ccdc180	UTSW	4	45,923,495 (GRCm39)	missense	probably damaging	0.99
R9667:Ccdc180	UTSW	4	45,920,861 (GRCm39)	nonsense	probably null
X0017:Ccdc180	UTSW	4	45,909,350 (GRCm39)	missense	possibly damaging	0.86
Z1176:Ccdc180	UTSW	4	45,920,910 (GRCm39)	missense	probably damaging	1.00
Z1176:Ccdc180	UTSW	4	45,916,406 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTTCCAGAGTGAGGCCTC -3'
(R):5'- CTCAGTATGTGCTGGGTGAC -3'

Sequencing Primer
(F):5'- GAGGCCTCTCATCTCTAAATATGAC -3'
(R):5'- GACCCCACCTTTCTCTTCAAACAG -3'

Posted On

2014-10-15