Mutagenetix > Incidental Mutation

Incidental Mutation 'R6108:Ccdc180'

485594

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

LOC381522, E230008N13Rik

MMRRC Submission

044258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6108 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45911389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 568 (N568S)

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: N560S

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: N560S

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: ENSMUST00000151024

SMART Domains

Protein: ENSMUSP00000122332
Gene: ENSMUSG00000035539

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC
low complexity region	38	55	N/A	INTRINSIC
coiled coil region	90	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178561
AA Change: N568S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: N568S

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (53/55)

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
Adgrv1	A	G	13: 81,539,814 (GRCm39)	F5702L	probably damaging	Het
Aptx	G	A	4: 40,694,986 (GRCm39)	Q117*	probably null	Het
Axin1	T	A	17: 26,362,214 (GRCm39)	M186K	probably damaging	Het
Btbd2	A	T	10: 80,481,365 (GRCm39)	L249Q	probably damaging	Het
Caprin1	C	T	2: 103,606,362 (GRCm39)	V293I	possibly damaging	Het
Ccdc136	C	A	6: 29,412,449 (GRCm39)	H334Q	probably benign	Het
Cenpf	A	T	1: 189,394,210 (GRCm39)	F515L	probably benign	Het
Chrm2	T	A	6: 36,500,230 (GRCm39)	V29E	probably damaging	Het
Cnot1	A	G	8: 96,457,048 (GRCm39)	L1956P	probably damaging	Het
Cyp2d22	T	C	15: 82,256,106 (GRCm39)	K176R	possibly damaging	Het
Dnah7a	A	T	1: 53,496,004 (GRCm39)	I3151N	probably damaging	Het
Dsg1a	T	A	18: 20,473,304 (GRCm39)	D792E	probably benign	Het
Fam167b	A	T	4: 129,472,101 (GRCm39)	L23*	probably null	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Gfm2	A	G	13: 97,285,930 (GRCm39)	I140V	possibly damaging	Het
Gna14	A	G	19: 16,580,707 (GRCm39)	T182A	probably damaging	Het
Hmcn1	A	G	1: 150,506,978 (GRCm39)	V3738A	possibly damaging	Het
Hspa4	C	T	11: 53,152,539 (GRCm39)	G810D	probably damaging	Het
Igf2bp3	A	G	6: 49,094,308 (GRCm39)	I154T	probably damaging	Het
Il1rap	G	A	16: 26,541,457 (GRCm39)	S566N	probably damaging	Het
Kcnb1	G	A	2: 166,947,060 (GRCm39)	T596M	probably damaging	Het
Kcnn1	A	C	8: 71,307,800 (GRCm39)	S81A	probably benign	Het
Lmod1	G	A	1: 135,291,849 (GRCm39)	G235R	probably benign	Het
Mei1	A	T	15: 81,959,389 (GRCm39)	R185S	possibly damaging	Het
Mmrn1	G	A	6: 60,952,960 (GRCm39)	V414M	possibly damaging	Het
Mon2	C	A	10: 122,868,600 (GRCm39)	M484I	probably benign	Het
Nae1	A	T	8: 105,254,034 (GRCm39)	D99E	probably benign	Het
Nsun7	T	A	5: 66,453,142 (GRCm39)	I619N	probably damaging	Het
Nudt12	C	A	17: 59,314,744 (GRCm39)	R280L	probably damaging	Het
Or1l4	T	C	2: 37,091,778 (GRCm39)	V175A	possibly damaging	Het
P2ry1	T	A	3: 60,911,596 (GRCm39)	I245N	probably damaging	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Plek	T	A	11: 16,940,058 (GRCm39)	Y217F	probably damaging	Het
Plpp1	A	T	13: 113,003,399 (GRCm39)	I208F	possibly damaging	Het
Ptges3-ps	C	T	6: 85,821,537 (GRCm39)		noncoding transcript	Het
Ptprf	A	G	4: 118,080,453 (GRCm39)	L1267P	probably benign	Het
Ptprz1	A	T	6: 23,045,658 (GRCm39)	S2143C	probably damaging	Het
Scn9a	T	C	2: 66,314,393 (GRCm39)	D1764G	probably damaging	Het
Serpinb5	T	A	1: 106,809,458 (GRCm39)	L288Q	probably damaging	Het
Slc6a20b	T	G	9: 123,425,251 (GRCm39)	M539L	probably benign	Het
Slfnl1	A	G	4: 120,390,558 (GRCm39)	T70A	probably benign	Het
Smtn	C	A	11: 3,479,608 (GRCm39)	L486F	probably damaging	Het
Sptbn2	G	A	19: 4,781,420 (GRCm39)		probably null	Het
Tas2r144	C	A	6: 42,192,691 (GRCm39)	L144I	possibly damaging	Het
Tjp3	C	T	10: 81,116,980 (GRCm39)	R183K	probably benign	Het
Tnip3	A	G	6: 65,502,395 (GRCm39)		probably null	Het
Tspan12	T	A	6: 21,772,770 (GRCm39)	M212L	probably benign	Het
Ttn	T	A	2: 76,708,385 (GRCm39)		probably benign	Het
Vmn1r71	T	C	7: 10,482,545 (GRCm39)	M48V	probably benign	Het
Vmn2r10	A	G	5: 109,143,667 (GRCm39)	F761S	probably damaging	Het
Vmn2r106	G	A	17: 20,488,638 (GRCm39)	P587L	probably benign	Het
Wdr72	A	G	9: 74,058,950 (GRCm39)	T348A	probably damaging	Het
Xrn1	A	T	9: 95,856,480 (GRCm39)	L333F	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
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
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'- CAGACTTTCTGCCTAACCCCAG -3'
(R):5'- GGAAATTCTGTGGGCTCCTG -3'

Sequencing Primer
(F):5'- AGCTCCAGAGGCAGTGG -3'
(R):5'- CTCCTGGGTGAGGGGCAAAG -3'

Posted On

2017-08-16