Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Ccdc180'

344311

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

LOC381522, E230008N13Rik

MMRRC Submission

041811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45945023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1477 (E1477G)

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

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

AlphaFold

J3QNE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000149903
AA Change: E1301G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: E1301G

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 damaging
Transcript: ENSMUST00000178561
AA Change: E1477G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: E1477G

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

0.2375

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
4921536K21Rik	A	G	11: 3,840,052 (GRCm39)	I115T	probably benign	Het
Acads	A	T	5: 115,251,123 (GRCm39)	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139 (GRCm39)	C118S	probably benign	Het
Alpk2	T	C	18: 65,422,819 (GRCm39)	T1493A	probably damaging	Het
AU018091	A	G	7: 3,208,268 (GRCm39)	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,417,896 (GRCm39)	I86N	probably damaging	Het
Ccne2	A	G	4: 11,202,986 (GRCm39)	N368S	probably benign	Het
Cenpp	A	T	13: 49,794,710 (GRCm39)	F152L	probably benign	Het
Cfap46	T	A	7: 139,232,320 (GRCm39)	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,958,678 (GRCm39)	V212A	probably damaging	Het
Col9a2	A	T	4: 120,902,352 (GRCm39)	K196N	probably benign	Het
Copg2	T	C	6: 30,749,449 (GRCm39)	D814G	probably damaging	Het
Dcaf13	G	A	15: 38,982,288 (GRCm39)	G85R	probably damaging	Het
Dnah9	A	G	11: 66,058,978 (GRCm39)	S106P	probably benign	Het
Dpp8	A	G	9: 64,983,085 (GRCm39)	D739G	probably damaging	Het
Drd2	T	A	9: 49,316,089 (GRCm39)	M283K	probably benign	Het
Espl1	A	G	15: 102,207,159 (GRCm39)	T208A	probably benign	Het
Glul	G	A	1: 153,778,796 (GRCm39)	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,007,005 (GRCm39)	K297E	unknown	Het
Gm21976	A	T	13: 98,442,318 (GRCm39)	R120W	probably damaging	Het
Hipk3	T	A	2: 104,271,622 (GRCm39)	T437S	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lipn	T	G	19: 34,058,750 (GRCm39)	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,152,810 (GRCm39)	V484A	probably benign	Het
Madd	T	C	2: 90,998,009 (GRCm39)	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,136,203 (GRCm39)	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,915,807 (GRCm39)	T299A	possibly damaging	Het
Micu3	T	C	8: 40,812,438 (GRCm39)		probably benign	Het
Mmp7	T	C	9: 7,697,667 (GRCm39)	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,403,357 (GRCm39)	D1329E	probably benign	Het
Or4a15	C	T	2: 89,193,669 (GRCm39)	V35M	probably damaging	Het
Or4f14b	T	C	2: 111,774,997 (GRCm39)	D268G	possibly damaging	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,647,568 (GRCm39)	D232E	probably damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3cb	A	G	9: 98,937,459 (GRCm39)	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,432,846 (GRCm39)	L170P	probably damaging	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,644,603 (GRCm39)	M394K	probably damaging	Het
Rhoq	T	C	17: 87,271,754 (GRCm39)	Y57H	probably benign	Het
Setbp1	T	C	18: 78,900,731 (GRCm39)	I979V	probably benign	Het
Slc6a4	A	G	11: 76,910,689 (GRCm39)	I447V	probably benign	Het
Sos2	T	C	12: 69,663,663 (GRCm39)	K607R	probably damaging	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Syne2	A	T	12: 76,013,845 (GRCm39)	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,550,441 (GRCm39)	F9I	possibly damaging	Het
Tex35	T	A	1: 156,926,909 (GRCm39)	Y195F	probably benign	Het
Tnc	T	C	4: 63,913,982 (GRCm39)	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,648,180 (GRCm39)	Y153*	probably null	Het
Trim5	C	A	7: 103,914,639 (GRCm39)	V477F	probably damaging	Het
Trp73	A	G	4: 154,148,874 (GRCm39)	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,743,380 (GRCm39)	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,849,000 (GRCm39)	D165G	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
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
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'- CATACCTGTCTGCATGTGGC -3'
(R):5'- GGTATGGATCTTGAAGAAAACAGTC -3'

Sequencing Primer
(F):5'- ATGTGGCCCTAGCTGACAGAC -3'
(R):5'- TTAATCCTAGCACTTGGGAGGCAC -3'

Posted On

2015-09-25