Mutagenetix > Incidental Mutation

Incidental Mutation 'R6987:Ccdc3'

543010

Institutional Source

Beutler Lab

Gene Symbol

Ccdc3

Ensembl Gene

ENSMUSG00000026676

Gene Name

coiled-coil domain containing 3

Synonyms

2310045O21Rik

MMRRC Submission

045094-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5142587-5235682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5143115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 124 (V124E)

Ref Sequence

ENSEMBL: ENSMUSP00000027988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027988]

AlphaFold

Q9D6Y1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027988
AA Change: V124E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027988
Gene: ENSMUSG00000026676
AA Change: V124E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
coiled coil region	188	250	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.9%

Validation Efficiency

100% (47/47)

MGI Phenotype

PHENOTYPE: Aging mice homozygous for a null allele are lean and show decreased epididymal and subcutaneous adipose tissue weight and adipocyte size, mild hyperglycemia, increased insulin sensitivity, reduced liver triglyceride levels and steatosis, and fewer inflammatory cells in epididymal fat tissue. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,629,978 (GRCm39)	I137V	probably benign	Het
Agtr1b	A	C	3: 20,370,585 (GRCm39)	I7S	probably benign	Het
Akt2	G	T	7: 27,332,666 (GRCm39)	V215L	probably damaging	Het
Ccdc148	C	A	2: 58,872,926 (GRCm39)	L294F	probably damaging	Het
Cldnd1	A	G	16: 58,551,734 (GRCm39)	D121G	probably benign	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2c40	A	G	19: 39,801,211 (GRCm39)		probably benign	Het
Dnah8	A	G	17: 30,881,065 (GRCm39)	I601V	possibly damaging	Het
Dnhd1	C	A	7: 105,353,792 (GRCm39)	H2982N	probably damaging	Het
Elavl4	A	T	4: 110,108,602 (GRCm39)	D55E	possibly damaging	Het
Enc1	T	C	13: 97,382,144 (GRCm39)	I218T	probably benign	Het
Fbln2	T	A	6: 91,211,211 (GRCm39)	V385D	probably benign	Het
Ffar2	A	G	7: 30,519,108 (GRCm39)	V144A	possibly damaging	Het
Fsip2	C	T	2: 82,778,630 (GRCm39)	Q159*	probably null	Het
Golga4	A	G	9: 118,387,600 (GRCm39)	H1574R	probably benign	Het
Herc2	G	A	7: 55,756,201 (GRCm39)	R747H	possibly damaging	Het
Lama4	A	G	10: 38,950,275 (GRCm39)	N985D	probably benign	Het
Lrp1	T	C	10: 127,410,874 (GRCm39)	N1438S	probably damaging	Het
Masp1	C	A	16: 23,332,665 (GRCm39)	V57F	probably damaging	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Nos1	C	T	5: 118,033,850 (GRCm39)	T324M	probably benign	Het
Npas3	A	G	12: 54,115,036 (GRCm39)	K635E	possibly damaging	Het
Or5p4	C	A	7: 107,680,338 (GRCm39)	C112*	probably null	Het
Or8b12i	A	T	9: 20,082,130 (GRCm39)	S246T	probably benign	Het
Osbp2	T	C	11: 3,667,958 (GRCm39)	E13G	probably damaging	Het
Pira12	A	G	7: 3,900,660 (GRCm39)	I30T	probably damaging	Het
Pkd1l1	A	G	11: 8,852,575 (GRCm39)	M636T	probably benign	Het
Pla2g4e	C	T	2: 120,016,861 (GRCm39)	A227T	probably benign	Het
Prex2	C	A	1: 11,240,976 (GRCm39)	A1028E	probably damaging	Het
Prr14	A	G	7: 127,072,977 (GRCm39)	D49G	possibly damaging	Het
Slc9a9	A	G	9: 94,552,043 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,660,021 (GRCm39)	C960R	probably benign	Het
Taf15	C	A	11: 83,375,521 (GRCm39)	T31K	possibly damaging	Het
Tdrd9	C	A	12: 111,992,027 (GRCm39)	Q601K	possibly damaging	Het
Tes	C	A	6: 17,086,154 (GRCm39)	Q16K	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem168	T	A	6: 13,591,476 (GRCm39)	M63L	possibly damaging	Het
Trav14-1	C	T	14: 53,791,916 (GRCm39)	R89*	probably null	Het
Trp53bp2	A	T	1: 182,274,200 (GRCm39)	Y615F	probably damaging	Het
Ttc27	T	C	17: 75,084,736 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,874,068 (GRCm39)	V548E	probably damaging	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vmn1r69	A	G	7: 10,314,491 (GRCm39)	M1T	probably null	Het
Zfp729a	T	A	13: 67,768,058 (GRCm39)	K724*	probably null	Het
Zfp850	A	T	7: 27,689,426 (GRCm39)	C261S	probably damaging	Het
Zfp882	T	A	8: 72,668,517 (GRCm39)	V448E	probably benign	Het
Zzef1	A	G	11: 72,746,340 (GRCm39)	M881V	possibly damaging	Het

Other mutations in Ccdc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
H8562:Ccdc3	UTSW	2	5,143,016 (GRCm39)	missense	probably damaging	1.00
R1164:Ccdc3	UTSW	2	5,146,077 (GRCm39)	missense	possibly damaging	0.95
R1808:Ccdc3	UTSW	2	5,142,896 (GRCm39)	missense	probably damaging	1.00
R3832:Ccdc3	UTSW	2	5,233,953 (GRCm39)	missense	probably benign	0.18
R5686:Ccdc3	UTSW	2	5,142,871 (GRCm39)	missense	probably damaging	1.00
R5878:Ccdc3	UTSW	2	5,233,827 (GRCm39)	missense	probably benign	0.27
R6003:Ccdc3	UTSW	2	5,146,218 (GRCm39)	critical splice donor site	probably null
R6053:Ccdc3	UTSW	2	5,233,838 (GRCm39)	missense	probably benign	0.22
R7470:Ccdc3	UTSW	2	5,143,115 (GRCm39)	missense	possibly damaging	0.76
R7701:Ccdc3	UTSW	2	5,142,868 (GRCm39)	missense	possibly damaging	0.55
R7714:Ccdc3	UTSW	2	5,233,908 (GRCm39)	missense	probably damaging	0.99
R7716:Ccdc3	UTSW	2	5,143,113 (GRCm39)	missense	probably benign	0.02
R8329:Ccdc3	UTSW	2	5,233,848 (GRCm39)	missense	probably damaging	1.00
R9272:Ccdc3	UTSW	2	5,146,143 (GRCm39)	missense	probably damaging	0.98
R9511:Ccdc3	UTSW	2	5,143,090 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ATCGTGTATGCCAAGGTGC -3'
(R):5'- ACTCCAAAGGCATCACTGTATC -3'

Sequencing Primer
(F):5'- TACAACTACCTGCCGTGGC -3'
(R):5'- CTTAAACAGCTTTAGCCAAGGG -3'

Posted On

2018-11-28