Mutagenetix > Incidental Mutation

Incidental Mutation 'R8983:Ccdc180'

683812

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

LOC381522, E230008N13Rik

MMRRC Submission

068816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45909359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 509 (V509D)

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

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

AlphaFold

J3QNE4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: V501D

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: V509D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: V509D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,313,272 (GRCm39)	F632I	unknown	Het
5730522E02Rik	T	C	11: 25,719,069 (GRCm39)	T26A	unknown	Het
Ablim1	A	T	19: 57,227,644 (GRCm39)	V7E	probably benign	Het
Adcy5	T	G	16: 34,977,232 (GRCm39)	L255R	possibly damaging	Het
Ahnak	C	A	19: 8,981,477 (GRCm39)	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,640,508 (GRCm39)	K1251E		Het
Astn1	T	A	1: 158,491,700 (GRCm39)		probably null	Het
Atxn2	A	G	5: 121,916,063 (GRCm39)	Y423C	probably damaging	Het
Ccdc80	T	C	16: 44,924,780 (GRCm39)	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,474,878 (GRCm39)	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,828,902 (GRCm39)		probably benign	Het
Cnot3	T	C	7: 3,654,328 (GRCm39)	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,686 (GRCm39)	N555I	probably benign	Het
Cpne6	A	T	14: 55,753,711 (GRCm39)	I390F	probably damaging	Het
Dlec1	A	G	9: 118,957,419 (GRCm39)	D836G	probably benign	Het
Dnah8	T	A	17: 31,070,628 (GRCm39)	V4438D	probably damaging	Het
Dok3	G	T	13: 55,671,535 (GRCm39)	N345K	probably damaging	Het
Eea1	C	T	10: 95,855,741 (GRCm39)	Q593*	probably null	Het
Eif3m	T	C	2: 104,830,139 (GRCm39)	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn3	T	C	11: 94,386,914 (GRCm39)	E152G	probably damaging	Het
Faf2	A	G	13: 54,769,726 (GRCm39)	S25G	probably benign	Het
Fam83b	A	G	9: 76,400,357 (GRCm39)	S249P	probably damaging	Het
Fgl1	A	T	8: 41,653,496 (GRCm39)	S132R	probably benign	Het
Frem3	A	G	8: 81,395,875 (GRCm39)	E1890G	probably damaging	Het
Gpc5	T	A	14: 115,330,118 (GRCm39)	S94T	unknown	Het
Hectd1	A	G	12: 51,791,410 (GRCm39)	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,833,104 (GRCm39)	A498V	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Loricrin	T	C	3: 91,988,446 (GRCm39)	Y280C	unknown	Het
Lpin2	C	T	17: 71,553,962 (GRCm39)	A931V	unknown	Het
Lpxn	A	G	19: 12,810,522 (GRCm39)	H322R	probably damaging	Het
Megf9	A	G	4: 70,353,634 (GRCm39)	S391P	probably benign	Het
Mipep	G	A	14: 61,080,702 (GRCm39)	V565I	probably benign	Het
Mmrn1	C	T	6: 60,953,042 (GRCm39)	T441I	probably benign	Het
Mrpl48	T	C	7: 100,223,702 (GRCm39)	N14S	probably benign	Het
Ncald	A	G	15: 37,397,512 (GRCm39)	F56S	probably damaging	Het
Or9g3	T	C	2: 85,584,251 (GRCm39)		probably benign	Het
Pals1	G	A	12: 78,884,298 (GRCm39)	D640N	probably damaging	Het
Plcd3	A	G	11: 102,962,092 (GRCm39)	V703A	possibly damaging	Het
Potefam1	A	G	2: 111,030,701 (GRCm39)	S403P	probably benign	Het
Prss59	A	G	6: 40,897,934 (GRCm39)	S250P	possibly damaging	Het
Qser1	T	C	2: 104,617,702 (GRCm39)	I947V	probably benign	Het
Rdx	G	A	9: 51,974,905 (GRCm39)	A14T	probably damaging	Het
Rnf213	A	G	11: 119,321,175 (GRCm39)	D1211G		Het
Sbpl	T	C	17: 24,172,253 (GRCm39)	D222G	unknown	Het
Scn8a	C	A	15: 100,900,030 (GRCm39)	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,902,459 (GRCm39)	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,409,267 (GRCm39)	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,775 (GRCm39)		probably benign	Het
Smco3	C	T	6: 136,808,730 (GRCm39)	G48D	possibly damaging	Het
Spag9	T	C	11: 93,958,815 (GRCm39)	S280P	probably benign	Het
Thada	T	C	17: 84,538,515 (GRCm39)	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,481,263 (GRCm39)	D641G	probably damaging	Het
Top6bl	T	C	19: 4,695,714 (GRCm39)	I513V	possibly damaging	Het
Trim43a	A	G	9: 88,464,404 (GRCm39)	D105G	probably benign	Het
Utp14b	T	A	1: 78,643,003 (GRCm39)	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,327,360 (GRCm39)	I656S	probably damaging	Het
Zfp646	A	T	7: 127,480,777 (GRCm39)	M985L	probably benign	Het
Zfp777	A	T	6: 48,006,158 (GRCm39)	L412Q	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
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
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'- CCTAAAGCGGACATTGAGGG -3'
(R):5'- TCCCTGTCTAAAAGAAGGCTG -3'

Sequencing Primer
(F):5'- TAGCTTGGAGACACAGGCCTC -3'
(R):5'- CCTGTCTAAAAGAAGGCTGAGCTC -3'

Posted On

2021-10-11