Mutagenetix > Incidental Mutation

Incidental Mutation 'R1102:Ccdc6'

98189

Institutional Source

Beutler Lab

Gene Symbol

Ccdc6

Ensembl Gene

ENSMUSG00000048701

Gene Name

coiled-coil domain containing 6

Synonyms

2810012H18Rik

MMRRC Submission

039175-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1102 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

69932951-70029030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 70023636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 400 (H400Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147545]

AlphaFold

D3YZP9

Predicted Effect

unknown
Transcript: ENSMUST00000135607
AA Change: H112Q

SMART Domains

Protein: ENSMUSP00000116408
Gene: ENSMUSG00000048701
AA Change: H112Q

Domain	Start	End	E-Value	Type
Pfam:DUF2046	1	43	1.1e-22	PFAM
low complexity region	57	74	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147545
AA Change: H400Q

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123374
Gene: ENSMUSG00000048701
AA Change: H400Q

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:DUF2046	25	330	2.2e-153	PFAM
low complexity region	344	361	N/A	INTRINSIC
low complexity region	404	413	N/A	INTRINSIC
low complexity region	419	469	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000156001
AA Change: H124Q

SMART Domains

Protein: ENSMUSP00000115678
Gene: ENSMUSG00000048701
AA Change: H124Q

Domain	Start	End	E-Value	Type
Pfam:DUF2046	1	55	1.6e-27	PFAM
low complexity region	69	86	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (60/61)

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 is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,211,460 (GRCm39)	T203M	probably damaging	Het
Acy3	C	T	19: 4,037,850 (GRCm39)	T119I	probably damaging	Het
Ccna1	T	C	3: 54,958,281 (GRCm39)	D134G	probably damaging	Het
Cct2	A	T	10: 116,896,545 (GRCm39)		probably null	Het
Cd36	A	G	5: 18,019,211 (GRCm39)	F170S	possibly damaging	Het
Cep350	G	A	1: 155,807,264 (GRCm39)	P718S	probably damaging	Het
Cimip1	T	A	2: 173,364,516 (GRCm39)	D20E	probably damaging	Het
Ctnna3	A	T	10: 64,421,774 (GRCm39)	I523L	probably benign	Het
Dnah1	G	T	14: 31,018,414 (GRCm39)	Y1405*	probably null	Het
Dnah8	T	A	17: 31,073,738 (GRCm39)		probably null	Het
Drd3	T	C	16: 43,582,846 (GRCm39)	L113S	probably damaging	Het
Emsy	T	C	7: 98,251,796 (GRCm39)	T735A	probably damaging	Het
Epha5	A	G	5: 84,381,434 (GRCm39)		probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxo10	A	G	4: 45,043,672 (GRCm39)	L717P	probably damaging	Het
Galnt10	T	C	11: 57,671,871 (GRCm39)		probably benign	Het
Gle1	T	G	2: 29,834,066 (GRCm39)	I437M	possibly damaging	Het
Gpr137b	T	C	13: 13,539,616 (GRCm39)		probably benign	Het
Gsta1	T	C	9: 78,149,777 (GRCm39)	F197L	probably damaging	Het
Icam1	G	A	9: 20,939,132 (GRCm39)	V502M	possibly damaging	Het
Ido1	T	A	8: 25,083,156 (GRCm39)	I90F	probably damaging	Het
Il4ra	G	A	7: 125,173,889 (GRCm39)		probably null	Het
Med12l	T	A	3: 59,152,257 (GRCm39)	M1014K	probably damaging	Het
Mmp13	A	G	9: 7,272,952 (GRCm39)	E104G	possibly damaging	Het
Mms19	T	C	19: 41,939,284 (GRCm39)	E495G	possibly damaging	Het
Mrc2	A	G	11: 105,231,647 (GRCm39)	I820V	probably benign	Het
Naip6	T	C	13: 100,440,923 (GRCm39)	K286E	possibly damaging	Het
Ndrg1	T	C	15: 66,816,685 (GRCm39)	Y110C	probably damaging	Het
Or1e1c	G	A	11: 73,265,700 (GRCm39)	V45I	probably benign	Het
Or4a78	A	T	2: 89,497,814 (GRCm39)	C139S	probably damaging	Het
Or5b118	T	C	19: 13,448,771 (GRCm39)	C146R	probably damaging	Het
Or5b3	G	A	19: 13,388,454 (GRCm39)	V174M	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pnpla7	G	T	2: 24,886,177 (GRCm39)	M3I	probably damaging	Het
Popdc3	A	G	10: 45,192,642 (GRCm39)		probably benign	Het
Ppp5c	A	G	7: 16,756,368 (GRCm39)	F112S	probably benign	Het
Rbp3	A	G	14: 33,678,313 (GRCm39)	T754A	possibly damaging	Het
Reep6	A	G	10: 80,171,080 (GRCm39)	T319A	probably benign	Het
Rfx3	A	G	19: 27,845,000 (GRCm39)	V43A	possibly damaging	Het
Rint1	A	G	5: 24,010,565 (GRCm39)		probably benign	Het
Sacm1l	T	G	9: 123,411,363 (GRCm39)	V384G	probably damaging	Het
Shox2	A	T	3: 66,885,628 (GRCm39)	L149Q	probably damaging	Het
Sipa1	T	C	19: 5,702,782 (GRCm39)	H805R	probably benign	Het
Skic2	T	C	17: 35,059,082 (GRCm39)	D1095G	probably benign	Het
Slc5a3	G	T	16: 91,874,765 (GRCm39)	W274L	probably damaging	Het
Spata31e4	A	G	13: 50,857,118 (GRCm39)	T919A	probably benign	Het
Sptbn1	G	T	11: 30,070,785 (GRCm39)	H1524Q	possibly damaging	Het
Ssr1	G	T	13: 38,171,591 (GRCm39)	Q149K	probably benign	Het
Taf7l2	T	C	10: 115,949,299 (GRCm39)	S76G	probably damaging	Het
Thsd7a	T	C	6: 12,555,701 (GRCm39)	D61G	possibly damaging	Het
Tmem245	T	C	4: 56,903,200 (GRCm39)		probably benign	Het
Tmem74	T	C	15: 43,730,186 (GRCm39)	T286A	probably benign	Het
Tnc	T	C	4: 63,938,705 (GRCm39)	N45D	probably benign	Het
Trdmt1	T	G	2: 13,528,225 (GRCm39)		probably benign	Het
Uty	A	T	Y: 1,174,741 (GRCm39)	Y220N	probably damaging	Het
Vdr	T	C	15: 97,757,002 (GRCm39)	Y290C	probably damaging	Het
Vmn2r19	T	A	6: 123,313,132 (GRCm39)	M734K	probably benign	Het
Vmn2r53	T	C	7: 12,332,410 (GRCm39)	D413G	possibly damaging	Het
Vps45	A	G	3: 95,950,253 (GRCm39)		probably benign	Het

Other mutations in Ccdc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02034:Ccdc6	APN	10	70,004,978 (GRCm39)	missense	probably benign	0.35
IGL03035:Ccdc6	APN	10	70,018,006 (GRCm39)	missense	probably benign	0.32
R0455:Ccdc6	UTSW	10	69,978,401 (GRCm39)	splice site	probably benign
R1609:Ccdc6	UTSW	10	70,002,877 (GRCm39)	missense	probably damaging	1.00
R1807:Ccdc6	UTSW	10	70,010,989 (GRCm39)	missense	possibly damaging	0.83
R2513:Ccdc6	UTSW	10	70,023,658 (GRCm39)	splice site	probably benign
R3933:Ccdc6	UTSW	10	70,025,000 (GRCm39)	unclassified	probably benign
R4684:Ccdc6	UTSW	10	70,025,086 (GRCm39)	unclassified	probably benign
R8035:Ccdc6	UTSW	10	69,933,331 (GRCm39)	missense	probably benign	0.00
R9090:Ccdc6	UTSW	10	70,024,993 (GRCm39)	missense	unknown
R9271:Ccdc6	UTSW	10	70,024,993 (GRCm39)	missense	unknown
R9433:Ccdc6	UTSW	10	70,004,951 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TATTTTGGCGCACCTGAGACCC -3'
(R):5'- AGCTGCAAAGGCAATTTTCAGATGC -3'

Sequencing Primer
(F):5'- CCCTAGATGGCTGAAGATCTC -3'
(R):5'- gtacagatggttgtaagccttc -3'

Posted On

2014-01-05