Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Ccdc8'

505446

Institutional Source

Beutler Lab

Gene Symbol

Ccdc8

Ensembl Gene

ENSMUSG00000041117

Gene Name

coiled-coil domain containing 8

Synonyms

ENSMUSG00000041117

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6244 (G1)

Quality Score

161.009

Status

Validated

Chromosome

Chromosomal Location

16992708-16997516 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16996251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 555 (P555Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094805]

AlphaFold

D3YZV8

Predicted Effect

probably benign
Transcript: ENSMUST00000094805
AA Change: P555Q

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000092399
Gene: ENSMUSG00000041117
AA Change: P555Q

Domain	Start	End	E-Value	Type
Pfam:PNMA	1	98	1.3e-19	PFAM
low complexity region	166	171	N/A	INTRINSIC
internal_repeat_1	207	275	5.53e-5	PROSPERO
low complexity region	297	332	N/A	INTRINSIC
low complexity region	335	420	N/A	INTRINSIC
low complexity region	430	452	N/A	INTRINSIC
low complexity region	458	468	N/A	INTRINSIC
low complexity region	478	540	N/A	INTRINSIC
internal_repeat_1	566	640	5.53e-5	PROSPERO
low complexity region	646	658	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352		probably null	Het
Brap	C	A	5: 121,665,309	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978	R3035L	probably benign	Het
Ccser2	A	G	14: 36,940,718	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,615,276	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566		probably null	Het
Dpp6	A	G	5: 27,049,628	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776		probably null	Het
Fen1	A	G	19: 10,200,687	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058		probably null	Het
Magi3	G	C	3: 104,015,697	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433	S244Y	probably damaging	Het
Phrf1	T	A	7: 141,237,673	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,230,558		probably null	Het
Polr2a	G	A	11: 69,744,226	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908		probably benign	Homo
Sc5d	T	C	9: 42,255,421	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828		probably null	Het
Serpinb11	T	A	1: 107,372,242	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712		probably null	Het
Strn3	A	G	12: 51,610,107	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971	Y426H	probably benign	Het

Other mutations in Ccdc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Ccdc8	APN	7	16996042	missense	unknown
R0255:Ccdc8	UTSW	7	16995657	missense	unknown
R0504:Ccdc8	UTSW	7	16996014	missense	unknown
R3843:Ccdc8	UTSW	7	16995114	missense	probably damaging	1.00
R5054:Ccdc8	UTSW	7	16995045	missense	probably damaging	1.00
R6020:Ccdc8	UTSW	7	16996581	missense	probably damaging	0.99
R6045:Ccdc8	UTSW	7	16996031	missense	unknown
R6753:Ccdc8	UTSW	7	16996637	nonsense	probably null
R7299:Ccdc8	UTSW	7	16996031	missense	unknown
R7567:Ccdc8	UTSW	7	16994762	missense	probably damaging	1.00
R7623:Ccdc8	UTSW	7	16996612	missense	possibly damaging	0.70
R7745:Ccdc8	UTSW	7	16995689	missense	unknown
R8310:Ccdc8	UTSW	7	16995401	missense	probably damaging	1.00
R8707:Ccdc8	UTSW	7	16996050	missense	unknown
R8840:Ccdc8	UTSW	7	16994717	missense	probably damaging	1.00
R9099:Ccdc8	UTSW	7	16994875	nonsense	probably null
R9630:Ccdc8	UTSW	7	16994808	missense	possibly damaging	0.91
R9696:Ccdc8	UTSW	7	16996162	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGCTTGTAGATAGTCCAAGGGC -3'
(R):5'- AGGCTTCCTGTATACCCTGAG -3'

Sequencing Primer
(F):5'- TGCAGCTGATCCAAGAGC -3'
(R):5'- GTATACCCTGAGGTCCTGCC -3'

Posted On

2018-02-28