Mutagenetix > Incidental Mutation

Incidental Mutation 'R8310:Ccdc8'

641323

Institutional Source

Beutler Lab

Gene Symbol

Ccdc8

Ensembl Gene

ENSMUSG00000041117

Gene Name

coiled-coil domain containing 8

Synonyms

ENSMUSG00000041117

MMRRC Submission

067795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8310 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16727827-16731440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16729326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 272 (S272P)

Ref Sequence

ENSEMBL: ENSMUSP00000092399 (fasta)

Gene Model

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

AlphaFold

D3YZV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094805
AA Change: S272P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092399
Gene: ENSMUSG00000041117
AA Change: S272P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (50/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830005F24Rik	T	G	13: 48,667,727 (GRCm39)	W10G	unknown	Het
Abca13	A	T	11: 9,328,269 (GRCm39)	K3447N	possibly damaging	Het
Agtr1a	T	G	13: 30,565,745 (GRCm39)	V270G	probably benign	Het
Apob	A	T	12: 8,059,033 (GRCm39)	H2505L	probably benign	Het
Babam1	T	A	8: 71,850,629 (GRCm39)	V86D	possibly damaging	Het
Cacna1s	C	A	1: 136,015,075 (GRCm39)	N654K	probably damaging	Het
Ccdc146	A	T	5: 21,506,469 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,956,730 (GRCm39)	E510G	probably damaging	Het
Cnot6l	A	T	5: 96,239,535 (GRCm39)	D255E	probably benign	Het
Ddx1	A	C	12: 13,274,280 (GRCm39)		probably benign	Het
Dyrk1a	A	G	16: 94,492,650 (GRCm39)	T628A	probably benign	Het
Elavl1	A	T	8: 4,351,786 (GRCm39)	I110N	probably damaging	Het
Emilin2	C	G	17: 71,562,141 (GRCm39)	D954H	probably damaging	Het
Erich3	C	T	3: 154,410,586 (GRCm39)	T147I		Het
Galnt1	A	T	18: 24,404,686 (GRCm39)	H341L	probably damaging	Het
Gm14325	A	T	2: 177,473,592 (GRCm39)	C497S	probably damaging	Het
Gm4922	A	T	10: 18,659,536 (GRCm39)	N395K	probably benign	Het
Hsd17b2	G	A	8: 118,469,155 (GRCm39)	C189Y	probably damaging	Het
Kcnn1	A	T	8: 71,305,449 (GRCm39)	S254T	possibly damaging	Het
Lce1l	G	C	3: 92,757,766 (GRCm39)	P31A	unknown	Het
Lrpprc	A	G	17: 85,080,524 (GRCm39)	Y199H	probably damaging	Het
Lrrtm3	A	T	10: 63,925,487 (GRCm39)		probably null	Het
Mon2	G	T	10: 122,838,688 (GRCm39)	A1598E	probably damaging	Het
Myh3	A	T	11: 66,986,833 (GRCm39)		probably null	Het
Naa11	A	T	5: 97,539,737 (GRCm39)	D140E	probably damaging	Het
Nadk2	G	A	15: 9,103,420 (GRCm39)	R350Q	probably benign	Het
Npc1	T	C	18: 12,326,455 (GRCm39)	I1162V	probably damaging	Het
Or4e1	A	G	14: 52,701,280 (GRCm39)	M62T	probably damaging	Het
Or5v1	T	C	17: 37,810,148 (GRCm39)	I202T	probably benign	Het
Otogl	A	T	10: 107,613,461 (GRCm39)	N2001K	possibly damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,171,912 (GRCm39)		probably null	Het
Ppp2r5c	A	T	12: 110,512,259 (GRCm39)	T185S	possibly damaging	Het
Psd2	A	T	18: 36,112,766 (GRCm39)	S154C	probably damaging	Het
Rnasel	G	A	1: 153,630,734 (GRCm39)	V417M	possibly damaging	Het
Slc35g2	A	G	9: 100,434,841 (GRCm39)	S277P	probably damaging	Het
Slc36a2	A	T	11: 55,070,158 (GRCm39)	W140R	possibly damaging	Het
Slc6a12	A	G	6: 121,340,250 (GRCm39)	K512E	probably damaging	Het
Sox7	C	T	14: 64,181,275 (GRCm39)	S24L	probably benign	Het
Specc1	A	G	11: 62,023,171 (GRCm39)	K659E	probably damaging	Het
Stx18	T	A	5: 38,285,383 (GRCm39)		probably null	Het
Svs5	C	A	2: 164,080,091 (GRCm39)	G25W	probably damaging	Het
Syne1	A	G	10: 5,297,829 (GRCm39)	M1156T	probably benign	Het
Tars2	T	A	3: 95,658,271 (GRCm39)	I185F	probably benign	Het
Thsd7a	T	C	6: 12,396,612 (GRCm39)	I839V		Het
Vmn1r115	T	C	7: 20,578,819 (GRCm39)	N31S	probably damaging	Het
Vmn1r57	A	G	7: 5,224,024 (GRCm39)	D183G	probably damaging	Het
Wdr7	C	T	18: 63,868,756 (GRCm39)	T275I	probably damaging	Het
Ybx2	A	G	11: 69,831,194 (GRCm39)	E263G	probably damaging	Het
Zbtb6	G	T	2: 37,319,896 (GRCm39)	Q11K	probably benign	Het
Zfp329	A	T	7: 12,544,116 (GRCm39)	C469*	probably null	Het
Zfp868	A	T	8: 70,066,446 (GRCm39)	L40H	probably damaging	Het

Other mutations in Ccdc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Ccdc8	APN	7	16,729,967 (GRCm39)	missense	unknown
R0255:Ccdc8	UTSW	7	16,729,582 (GRCm39)	missense	unknown
R0504:Ccdc8	UTSW	7	16,729,939 (GRCm39)	missense	unknown
R3843:Ccdc8	UTSW	7	16,729,039 (GRCm39)	missense	probably damaging	1.00
R5054:Ccdc8	UTSW	7	16,728,970 (GRCm39)	missense	probably damaging	1.00
R6020:Ccdc8	UTSW	7	16,730,506 (GRCm39)	missense	probably damaging	0.99
R6045:Ccdc8	UTSW	7	16,729,956 (GRCm39)	missense	unknown
R6244:Ccdc8	UTSW	7	16,730,176 (GRCm39)	missense	probably benign	0.04
R6753:Ccdc8	UTSW	7	16,730,562 (GRCm39)	nonsense	probably null
R7299:Ccdc8	UTSW	7	16,729,956 (GRCm39)	missense	unknown
R7567:Ccdc8	UTSW	7	16,728,687 (GRCm39)	missense	probably damaging	1.00
R7623:Ccdc8	UTSW	7	16,730,537 (GRCm39)	missense	possibly damaging	0.70
R7745:Ccdc8	UTSW	7	16,729,614 (GRCm39)	missense	unknown
R8707:Ccdc8	UTSW	7	16,729,975 (GRCm39)	missense	unknown
R8840:Ccdc8	UTSW	7	16,728,642 (GRCm39)	missense	probably damaging	1.00
R9099:Ccdc8	UTSW	7	16,728,800 (GRCm39)	nonsense	probably null
R9630:Ccdc8	UTSW	7	16,728,733 (GRCm39)	missense	possibly damaging	0.91
R9696:Ccdc8	UTSW	7	16,730,087 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAGTATGTTAGCCAGGTGTCC -3'
(R):5'- TTGGATCAGCTGCAGTCTCTG -3'

Sequencing Primer
(F):5'- TGTCCTGGGGGAAGCTGAAAC -3'
(R):5'- AGTCTCTGCCCTTGGACTAG -3'

Posted On

2020-07-28