Mutagenetix > Incidental Mutation

Incidental Mutation 'R4084:Ccdc180'

317013

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

LOC381522, E230008N13Rik

MMRRC Submission

040857-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45950632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1626 (I1626V)

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

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

AlphaFold

J3QNE4

Predicted Effect

unknown
Transcript: ENSMUST00000149903
AA Change: I1450V

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: I1450V

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
AA Change: I1626V

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: I1626V

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,601,884 (GRCm39)		probably null	Het
Arhgdig	T	C	17: 26,418,799 (GRCm39)	D114G	possibly damaging	Het
Btnl1	C	T	17: 34,600,133 (GRCm39)	T212I	possibly damaging	Het
Camkk1	C	T	11: 72,928,691 (GRCm39)	T410I	probably damaging	Het
Capn13	C	T	17: 73,644,444 (GRCm39)	G362R	probably benign	Het
Catsperd	A	G	17: 56,961,453 (GRCm39)	T392A	probably benign	Het
Cdon	C	A	9: 35,389,427 (GRCm39)	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131 (GRCm39)	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132 (GRCm39)	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,358,795 (GRCm39)	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,641,676 (GRCm39)	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,689,248 (GRCm39)	V457A	probably damaging	Het
Flna	C	T	X: 73,280,531 (GRCm39)	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 52,997,507 (GRCm39)	K486I	possibly damaging	Het
Gja1	A	C	10: 56,264,607 (GRCm39)	Q322P	possibly damaging	Het
Gtpbp3	A	G	8: 71,943,156 (GRCm39)	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,533,417 (GRCm39)	V213A	probably damaging	Het
Herc4	G	T	10: 63,119,016 (GRCm39)	G322V	probably damaging	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Htra1	T	C	7: 130,538,074 (GRCm39)	S25P	probably benign	Het
Ifi44	A	G	3: 151,451,126 (GRCm39)		probably null	Het
Klhl24	T	A	16: 19,933,312 (GRCm39)	S308T	probably damaging	Het
Lamb2	A	G	9: 108,365,217 (GRCm39)	N1291S	probably benign	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,686,250 (GRCm39)	I634N	probably damaging	Het
Lipn	T	C	19: 34,056,340 (GRCm39)	F229L	probably benign	Het
Lmtk3	T	A	7: 45,442,716 (GRCm39)	S466R	probably damaging	Het
Lonrf2	G	A	1: 38,860,232 (GRCm39)	T22I	probably benign	Het
Macf1	T	C	4: 123,343,865 (GRCm39)	H2119R	probably damaging	Het
Muc6	C	T	7: 141,234,920 (GRCm39)	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,325,938 (GRCm39)	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,280,258 (GRCm39)	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,573,248 (GRCm39)	L62P	probably damaging	Het
Or11h6	T	A	14: 50,880,305 (GRCm39)	I189N	probably damaging	Het
Or2b2	G	A	13: 21,887,238 (GRCm39)	W22*	probably null	Het
Or2b2	C	A	13: 21,887,239 (GRCm39)	L23M	probably damaging	Het
Or52ab4	T	G	7: 102,987,527 (GRCm39)	F89V	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,142,806 (GRCm39)	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,060,805 (GRCm39)	F441L	probably damaging	Het
Prkaca	C	A	8: 84,721,939 (GRCm39)	P309T	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ripor3	A	G	2: 167,826,386 (GRCm39)	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,386,808 (GRCm39)	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,126 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,253 (GRCm39)	S686P	probably damaging	Het
Seh1l	T	C	18: 67,921,860 (GRCm39)	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,139,126 (GRCm39)	I273L	possibly damaging	Het
Slc23a2	A	T	2: 131,933,137 (GRCm39)	L107*	probably null	Het
Slc44a4	T	C	17: 35,136,323 (GRCm39)	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,815,148 (GRCm39)	V387I	probably benign	Het
Slu7	G	A	11: 43,334,218 (GRCm39)	A415T	probably benign	Het
Tlr5	A	T	1: 182,802,413 (GRCm39)	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 56,891,387 (GRCm39)	G3D	probably benign	Het
Trim24	A	G	6: 37,892,192 (GRCm39)	T242A	probably damaging	Het
Triobp	T	A	15: 78,857,871 (GRCm39)	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,066,899 (GRCm39)	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,218,984 (GRCm39)	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,600,414 (GRCm39)	E495K	probably benign	Het
Vstm2a	A	G	11: 16,213,098 (GRCm39)	E161G	probably damaging	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp1005	T	A	2: 150,108,122 (GRCm39)	N27K	possibly damaging	Het
Zfp27	C	T	7: 29,594,792 (GRCm39)	R391H	possibly 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
R2228:Ccdc180	UTSW	4	45,948,856 (GRCm39)	critical splice donor site	probably null
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
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'- CACCTATGTGAGAGCCTGTG -3'
(R):5'- TACCAAAGTGCCCTCATTTCTG -3'

Sequencing Primer
(F):5'- CTGTGGGATGACTTCCTGAGAAAC -3'
(R):5'- CCTCATTTCTGATAAAACTCTGGTG -3'

Posted On

2015-05-15