Mutagenetix > Incidental Mutation

Incidental Mutation 'R9630:Ccdc8'

725428

Institutional Source

Beutler Lab

Gene Symbol

Ccdc8

Ensembl Gene

ENSMUSG00000041117

Gene Name

coiled-coil domain containing 8

Synonyms

ENSMUSG00000041117

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9630 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16727827-16731440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16728733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 74 (K74R)

Ref Sequence

ENSEMBL: ENSMUSP00000092399 (fasta)

Gene Model

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

AlphaFold

D3YZV8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094805
AA Change: K74R

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092399
Gene: ENSMUSG00000041117
AA Change: K74R

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	A	G	6: 48,952,756 (GRCm39)	D227G	probably damaging	Het
Arhgap17	A	G	7: 122,907,540 (GRCm39)	M274T	probably benign	Het
Bco2	T	C	9: 50,456,757 (GRCm39)	T128A	possibly damaging	Het
Bcr	T	A	10: 74,966,950 (GRCm39)	L519Q	probably damaging	Het
Cadps2	A	T	6: 23,587,571 (GRCm39)	S306R	probably benign	Het
Cage1	T	C	13: 38,206,855 (GRCm39)	E330G	probably damaging	Het
Cdc42ep2	C	A	19: 5,968,363 (GRCm39)	G114V		Het
Celsr3	T	C	9: 108,704,296 (GRCm39)	S260P	probably benign	Het
Clic4	G	A	4: 134,944,476 (GRCm39)	T233I	probably damaging	Het
Clip2	C	A	5: 134,531,934 (GRCm39)	D624Y	probably damaging	Het
Clock	A	G	5: 76,393,281 (GRCm39)	S221P	probably benign	Het
Creb3l2	G	T	6: 37,356,808 (GRCm39)	S86R	possibly damaging	Het
Cspp1	G	A	1: 10,108,292 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Efnb2	T	C	8: 8,670,617 (GRCm39)	S328G	probably damaging	Het
Egf	A	G	3: 129,518,844 (GRCm39)	L335P	possibly damaging	Het
Eml4	T	A	17: 83,717,572 (GRCm39)	V48D	probably damaging	Het
Fat2	A	C	11: 55,147,605 (GRCm39)	V3879G	probably benign	Het
Fcgbpl1	T	C	7: 27,836,624 (GRCm39)	L181P	probably damaging	Het
Flnb	T	A	14: 7,926,438 (GRCm38)	Y1827*	probably null	Het
Fuca2	A	T	10: 13,378,820 (GRCm39)	Y71F	probably benign	Het
Gcn1	C	A	5: 115,741,349 (GRCm39)	H1463N	probably damaging	Het
Ifitm10	C	T	7: 141,924,909 (GRCm39)	A48T	probably damaging	Het
Iqce	T	C	5: 140,666,591 (GRCm39)	D385G	possibly damaging	Het
Kdm5b	T	A	1: 134,512,971 (GRCm39)		probably null	Het
Kdm7a	A	T	6: 39,150,239 (GRCm39)	S178T	probably damaging	Het
Mmp12	T	A	9: 7,347,516 (GRCm39)	M31K	probably benign	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Myo15a	T	A	11: 60,407,988 (GRCm39)	C3159S	probably damaging	Het
Nf1	T	C	11: 79,302,470 (GRCm39)	V346A	probably damaging	Het
Nfkbib	A	T	7: 28,461,304 (GRCm39)	Y114*	probably null	Het
Nr2c1	T	A	10: 93,998,285 (GRCm39)	D76E	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or1ak2	T	C	2: 36,827,653 (GRCm39)	I174T	probably damaging	Het
Or4a74	C	A	2: 89,440,349 (GRCm39)	M32I	probably benign	Het
Or5m10b	A	G	2: 85,699,493 (GRCm39)	M186V	probably benign	Het
Or6c33	T	C	10: 129,853,410 (GRCm39)	F60S	probably damaging	Het
Or8h7	A	C	2: 86,720,956 (GRCm39)	S188A	probably damaging	Het
Pced1a	A	T	2: 130,261,109 (GRCm39)	I416N	probably benign	Het
Pdzd2	G	T	15: 12,374,443 (GRCm39)	D1897E	probably benign	Het
Pign	A	T	1: 105,481,591 (GRCm39)	F802I	probably benign	Het
Pik3c2g	C	A	6: 139,599,237 (GRCm39)	Q118K	possibly damaging	Het
Plcl2	A	G	17: 50,947,147 (GRCm39)	M1009V	probably benign	Het
Ppil6	T	A	10: 41,370,550 (GRCm39)	D59E	probably benign	Het
Rad23a	T	C	8: 85,564,919 (GRCm39)	D152G	probably benign	Het
Rif1	A	G	2: 51,979,607 (GRCm39)	I430V	probably damaging	Het
Rint1	T	C	5: 24,020,810 (GRCm39)	V611A	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sall4	A	G	2: 168,596,408 (GRCm39)	S811P	probably benign	Het
Scaf11	G	A	15: 96,316,049 (GRCm39)	P1172S	probably damaging	Het
Sel1l3	T	G	5: 53,342,117 (GRCm39)	N368H	possibly damaging	Het
Sele	C	A	1: 163,879,523 (GRCm39)	P352Q	probably damaging	Het
Serpinf1	T	A	11: 75,301,852 (GRCm39)	T268S	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sis	A	T	3: 72,828,722 (GRCm39)	N1152K	probably benign	Het
Slc16a13	T	C	11: 70,108,597 (GRCm39)	E411G	possibly damaging	Het
Slc22a23	T	C	13: 34,379,390 (GRCm39)	N459S	possibly damaging	Het
Srpk1	C	A	17: 28,819,404 (GRCm39)	K268N	probably benign	Het
Ssbp3	A	G	4: 106,895,426 (GRCm39)	Y258C	probably damaging	Het
Ssc5d	C	T	7: 4,939,426 (GRCm39)	P621S	probably damaging	Het
Strada	T	C	11: 106,077,781 (GRCm39)	Q61R	unknown	Het
Strn3	G	A	12: 51,657,013 (GRCm39)	T755I	probably damaging	Het
Taf4b	C	G	18: 14,930,077 (GRCm39)	P150A	probably damaging	Het
Tmem236	T	A	2: 14,223,815 (GRCm39)	H201Q	probably benign	Het
Top3b	A	G	16: 16,710,354 (GRCm39)	E728G	probably benign	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ugt2b36	C	T	5: 87,239,773 (GRCm39)	G204D	possibly damaging	Het
Vldlr	A	T	19: 27,207,623 (GRCm39)	Q37L	probably damaging	Het
Zfat	A	T	15: 67,990,793 (GRCm39)	I1031N	probably benign	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
R8310:Ccdc8	UTSW	7	16,729,326 (GRCm39)	missense	probably damaging	1.00
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
R9696:Ccdc8	UTSW	7	16,730,087 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGATGTTGACTATCTGCTCATCC -3'
(R):5'- CCAGGAATTTGCTGCCCAAG -3'

Sequencing Primer
(F):5'- GACTATCTGCTCATCCCCCGG -3'
(R):5'- GGAATTTGCTGCCCAAGTAACTGAC -3'

Posted On

2022-09-12