Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03035:Ccdc6'

408603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccdc6

Ensembl Gene

ENSMUSG00000048701

Gene Name

coiled-coil domain containing 6

Synonyms

2810012H18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03035

Quality Score

Status

Chromosome

Chromosomal Location

69932951-70029030 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70018006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 334 (S334T)

Ref Sequence

ENSEMBL: ENSMUSP00000123374 (fasta)

Gene Model

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

AlphaFold

D3YZP9

Predicted Effect

unknown
Transcript: ENSMUST00000135607
AA Change: S46T

SMART Domains

Protein: ENSMUSP00000116408
Gene: ENSMUSG00000048701
AA Change: S46T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145990

Predicted Effect

probably benign
Transcript: ENSMUST00000147545
AA Change: S334T

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123374
Gene: ENSMUSG00000048701
AA Change: S334T

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: S58T

SMART Domains

Protein: ENSMUSP00000115678
Gene: ENSMUSG00000048701
AA Change: S58T

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

Coding Region Coverage

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 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,573,319 (GRCm39)	L1004P	probably damaging	Het
Adgrf5	T	C	17: 43,741,518 (GRCm39)	I385T	possibly damaging	Het
Alpk3	T	C	7: 80,728,352 (GRCm39)	V494A	probably benign	Het
Camta2	C	A	11: 70,562,335 (GRCm39)	E1021*	probably null	Het
Cd84	T	C	1: 171,679,601 (GRCm39)	V93A	probably damaging	Het
Ceacam20	T	C	7: 19,711,833 (GRCm39)		probably null	Het
Crip2	A	C	12: 113,107,745 (GRCm39)	T103P	probably benign	Het
Cyp4f14	T	A	17: 33,133,608 (GRCm39)	T83S	probably benign	Het
Dapk1	T	A	13: 60,864,587 (GRCm39)	V127D	probably damaging	Het
Dnah7c	A	G	1: 46,563,277 (GRCm39)	E609G	probably benign	Het
Dscam	T	A	16: 96,621,170 (GRCm39)	I513F	possibly damaging	Het
Ell2	T	A	13: 75,911,767 (GRCm39)	L351*	probably null	Het
Emcn	G	T	3: 137,078,612 (GRCm39)		probably null	Het
Fdft1	A	T	14: 63,400,838 (GRCm39)	C98*	probably null	Het
Fer1l4	A	G	2: 155,864,526 (GRCm39)	S1663P	possibly damaging	Het
Flt4	C	A	11: 49,536,724 (GRCm39)	Y1231*	probably null	Het
Gatb	A	G	3: 85,509,254 (GRCm39)	K139E	probably damaging	Het
Gtf2a1	C	A	12: 91,539,411 (GRCm39)		probably benign	Het
Gtf3c2	A	C	5: 31,323,358 (GRCm39)	V574G	possibly damaging	Het
Heatr1	T	C	13: 12,428,100 (GRCm39)		probably benign	Het
Homer2	T	A	7: 81,274,026 (GRCm39)	T57S	possibly damaging	Het
Ice2	C	A	9: 69,332,970 (GRCm39)	F825L	probably benign	Het
Lepr	C	A	4: 101,622,177 (GRCm39)	L370I	probably damaging	Het
Nalcn	G	A	14: 123,515,630 (GRCm39)	Q1724*	probably null	Het
Nufip1	A	G	14: 76,353,258 (GRCm39)	D222G	probably damaging	Het
Or4f4b	T	C	2: 111,314,168 (GRCm39)	V159A	probably benign	Het
Prl3b1	A	G	13: 27,433,516 (GRCm39)		probably benign	Het
Ptbp3	A	T	4: 59,477,218 (GRCm39)	M393K	probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rapgef2	T	A	3: 79,001,731 (GRCm39)	H282L	probably damaging	Het
Rars2	T	C	4: 34,656,865 (GRCm39)		probably null	Het
Rnf213	G	A	11: 119,336,452 (GRCm39)		probably benign	Het
Ros1	C	A	10: 51,952,080 (GRCm39)		probably benign	Het
Slx4ip	A	G	2: 136,909,623 (GRCm39)	D206G	possibly damaging	Het
Sprr1a	T	A	3: 92,391,884 (GRCm39)	D39V	probably benign	Het
Stab1	A	G	14: 30,869,726 (GRCm39)	V1442A	probably benign	Het
Tbx3	C	A	5: 119,821,161 (GRCm39)		probably benign	Het
Ubl3	A	G	5: 148,442,947 (GRCm39)	*118Q	probably null	Het
Vmn2r55	G	A	7: 12,404,743 (GRCm39)	S220L	probably benign	Het
Vps36	A	G	8: 22,708,431 (GRCm39)	K362E	probably benign	Het
Zfp268	C	A	4: 145,348,802 (GRCm39)	Q80K	possibly damaging	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
R0455:Ccdc6	UTSW	10	69,978,401 (GRCm39)	splice site	probably benign
R1102:Ccdc6	UTSW	10	70,023,636 (GRCm39)	missense	possibly damaging	0.73
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

Posted On

2016-08-02