Mutagenetix > Incidental Mutation

Incidental Mutation 'R9346:Ccdc180'

707792

Institutional Source

Beutler Lab

Gene Symbol

Ccdc180

Ensembl Gene

ENSMUSG00000035539

Gene Name

coiled-coil domain containing 180

Synonyms

LOC381522, E230008N13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45890303-45950774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45927953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1163 (T1163S)

Ref Sequence

ENSEMBL: ENSMUSP00000136714 (fasta)

Gene Model

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

AlphaFold

J3QNE4

Predicted Effect

probably benign
Transcript: ENSMUST00000149903
AA Change: T987S

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: T987S

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: T1163S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: T1163S

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

0.0810

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	T	11: 58,179,095 (GRCm39)	C143F		Het
Adam8	T	C	7: 139,567,634 (GRCm39)	I370V	probably benign	Het
Adamts1	T	A	16: 85,599,420 (GRCm39)	D60V	possibly damaging	Het
Adh5	G	A	3: 138,157,203 (GRCm39)	V255I	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Arid2	T	C	15: 96,185,792 (GRCm39)	I37T	probably benign	Het
Arnt2	C	T	7: 83,931,321 (GRCm39)	R383Q	probably benign	Het
Arrb1	T	A	7: 99,242,207 (GRCm39)	Y238*	probably null	Het
Brdt	T	C	5: 107,524,880 (GRCm39)	I807T	probably damaging	Het
Cacna1d	T	A	14: 29,818,880 (GRCm39)	Q1247L	possibly damaging	Het
Carmil3	T	C	14: 55,732,141 (GRCm39)	Y213H	probably damaging	Het
Cfl1	T	A	19: 5,543,641 (GRCm39)	L206Q	probably benign	Het
Chga	A	G	12: 102,525,548 (GRCm39)	D63G	probably damaging	Het
Dennd1a	T	C	2: 37,911,447 (GRCm39)	D180G	probably benign	Het
Dop1b	T	C	16: 93,577,702 (GRCm39)		probably null	Het
Fam171a2	C	T	11: 102,328,771 (GRCm39)	V663M	possibly damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Gimap9	C	A	6: 48,654,492 (GRCm39)	N26K	probably damaging	Het
Gtf2i	A	G	5: 134,273,663 (GRCm39)	F769L	probably damaging	Het
Gtf2i	G	T	5: 134,315,781 (GRCm39)	H164N	probably benign	Het
Ino80	G	A	2: 119,257,439 (GRCm39)	T797I	possibly damaging	Het
Kcnma1	T	C	14: 23,700,233 (GRCm39)	S188G	possibly damaging	Het
Krt82	A	G	15: 101,458,959 (GRCm39)	M27T	probably benign	Het
Ncam2	A	G	16: 81,252,204 (GRCm39)	K216E	probably benign	Het
Nynrin	A	G	14: 56,100,495 (GRCm39)	Q95R	probably benign	Het
Or1e1c	T	C	11: 73,266,129 (GRCm39)	S188P	probably benign	Het
Or4c102	T	A	2: 88,423,062 (GRCm39)	S305T	probably benign	Het
Pon1	C	A	6: 5,193,722 (GRCm39)	V10L	probably benign	Het
Ptk2b	T	A	14: 66,415,541 (GRCm39)	N252Y	possibly damaging	Het
Rad51	G	A	2: 118,949,093 (GRCm39)	C31Y	probably benign	Het
Sbf2	A	G	7: 109,919,946 (GRCm39)	F1525L	probably benign	Het
Sec11a	T	C	7: 80,557,760 (GRCm39)	D173G	unknown	Het
Sftpd	C	T	14: 40,896,466 (GRCm39)	R239H	probably benign	Het
Shq1	T	A	6: 100,641,431 (GRCm39)	Y150F	probably damaging	Het
Slc39a11	A	G	11: 113,414,449 (GRCm39)	V50A	probably damaging	Het
Snrnp25	A	T	11: 32,155,622 (GRCm39)	M1L	probably benign	Het
Tgm6	A	T	2: 129,983,776 (GRCm39)	K312*	probably null	Het
Tln1	C	A	4: 43,546,895 (GRCm39)	R827L	probably damaging	Het
Trim37	A	T	11: 87,057,426 (GRCm39)		probably null	Het
Zdhhc13	T	A	7: 48,472,328 (GRCm39)	N495K	probably benign	Het
Zfp280b	C	T	10: 75,875,126 (GRCm39)	T335I	possibly damaging	Het
Zfp583	T	A	7: 6,328,542 (GRCm39)	T16S	probably benign	Het
Zgpat	C	A	2: 181,021,844 (GRCm39)	D423E	probably benign	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
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
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'- GAAAGATCTGCCACCTCAGGAC -3'
(R):5'- GCTGCACTAGATCTCATGTGG -3'

Sequencing Primer
(F):5'- GATCTGCCACCTCAGGACATCTG -3'
(R):5'- CATGTGGTCTCCTGGGAGCATAC -3'

Posted On

2022-04-18