Mutagenetix > Incidental Mutation

Incidental Mutation 'R7701:Ccdc3'

593984

Institutional Source

Beutler Lab

Gene Symbol

Ccdc3

Ensembl Gene

ENSMUSG00000026676

Gene Name

coiled-coil domain containing 3

Synonyms

2310045O21Rik

MMRRC Submission

045762-MU

Accession Numbers

Essential gene?

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

Stock #

R7701 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5142587-5235682 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5142868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 42 (T42A)

Ref Sequence

ENSEMBL: ENSMUSP00000027988 (fasta)

Gene Model

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

AlphaFold

Q9D6Y1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027988
AA Change: T42A

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027988
Gene: ENSMUSG00000026676
AA Change: T42A

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	T	C	2: 170,443,225 (GRCm39)		probably benign	Het
4932414N04Rik	G	A	2: 68,561,548 (GRCm39)	V292M	possibly damaging	Het
Actn1	A	T	12: 80,221,328 (GRCm39)	V575E	possibly damaging	Het
Arhgef1	T	C	7: 24,612,003 (GRCm39)	S129P	probably benign	Het
Aup1	T	C	6: 83,032,908 (GRCm39)	V214A	probably benign	Het
Bbs10	A	G	10: 111,135,874 (GRCm39)	E329G	probably damaging	Het
Brinp2	A	G	1: 158,094,030 (GRCm39)		probably null	Het
Cd276	T	C	9: 58,442,810 (GRCm39)	N215S	probably benign	Het
Col24a1	T	A	3: 145,020,772 (GRCm39)	M381K	probably benign	Het
Col24a1	A	G	3: 145,072,656 (GRCm39)		probably null	Het
Col6a4	A	C	9: 105,960,087 (GRCm39)	F19V	probably benign	Het
Crybg1	G	T	10: 43,865,139 (GRCm39)	A1446E	probably benign	Het
Dach1	C	T	14: 98,140,670 (GRCm39)	R496K	probably damaging	Het
Dchs2	A	G	3: 83,253,513 (GRCm39)	T2308A	possibly damaging	Het
Duxf1	A	G	10: 58,058,885 (GRCm39)	V623A	possibly damaging	Het
Dync1h1	G	A	12: 110,585,080 (GRCm39)	D828N	probably damaging	Het
Eif2a	A	T	3: 58,459,991 (GRCm39)	H462L	possibly damaging	Het
Flot2	A	G	11: 77,928,942 (GRCm39)		probably null	Het
Gas2	T	G	7: 51,643,101 (GRCm39)	Y263*	probably null	Het
Gm5111	A	G	6: 48,567,027 (GRCm39)	I81V	unknown	Het
Iqcm	A	G	8: 76,281,539 (GRCm39)	I7M	probably benign	Het
Kank1	G	A	19: 25,389,129 (GRCm39)		probably null	Het
Lnx2	A	T	5: 146,961,333 (GRCm39)	V533E	probably damaging	Het
Mapk8ip3	G	T	17: 25,120,378 (GRCm39)	P904T	possibly damaging	Het
Mcm5	C	A	8: 75,850,551 (GRCm39)	H596N	probably benign	Het
Miip	A	T	4: 147,947,371 (GRCm39)	V237E	probably null	Het
Mob3a	G	A	10: 80,525,768 (GRCm39)	A181V	probably damaging	Het
Mrpl38	G	A	11: 116,026,104 (GRCm39)	R99W	probably benign	Het
Naa25	A	G	5: 121,564,042 (GRCm39)	T486A	probably benign	Het
Or2z9	T	A	8: 72,854,030 (GRCm39)	L142Q	probably damaging	Het
Or5b102	A	G	19: 13,041,445 (GRCm39)	I223M	probably damaging	Het
Or8g4	A	G	9: 39,662,597 (GRCm39)	Y305C	probably benign	Het
Pcdha8	A	T	18: 37,126,864 (GRCm39)	N449Y	probably damaging	Het
Pcdhb6	A	T	18: 37,467,562 (GRCm39)	D161V	probably damaging	Het
Pdlim3	A	G	8: 46,361,576 (GRCm39)	D134G	probably benign	Het
Phpt1	A	G	2: 25,464,799 (GRCm39)	V18A	probably benign	Het
Prg4	T	C	1: 150,333,293 (GRCm39)	K177E	possibly damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Rab14	A	G	2: 35,073,427 (GRCm39)	F150L		Het
Rgs14	A	G	13: 55,527,138 (GRCm39)	D169G	probably damaging	Het
Rreb1	C	T	13: 38,114,092 (GRCm39)	L484F	possibly damaging	Het
Rsph14	A	T	10: 74,793,608 (GRCm39)	Y264*	probably null	Het
Scly	T	C	1: 91,236,030 (GRCm39)	I152T		Het
Ska1	A	T	18: 74,335,714 (GRCm39)	H85Q	probably damaging	Het
Slc35b3	T	C	13: 39,128,611 (GRCm39)	M159V	probably benign	Het
Smok2b	A	G	17: 13,453,767 (GRCm39)		probably benign	Het
Spock1	G	A	13: 57,735,472 (GRCm39)	Q103*	probably null	Het
Topbp1	T	C	9: 103,210,184 (GRCm39)	V914A	probably damaging	Het
Tspan3	A	T	9: 56,054,803 (GRCm39)	Y41*	probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,560,028 (GRCm39)	I29458L	possibly damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Zfat	C	A	15: 68,052,757 (GRCm39)	E346*	probably null	Het
Zfp341	T	A	2: 154,476,000 (GRCm39)		probably null	Het
Zfp54	A	G	17: 21,654,357 (GRCm39)	T284A	probably benign	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
R6987:Ccdc3	UTSW	2	5,143,115 (GRCm39)	missense	possibly damaging	0.76
R7470:Ccdc3	UTSW	2	5,143,115 (GRCm39)	missense	possibly damaging	0.76
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'- CCAGTTAGGTCTGGTGGTCAAG -3'
(R):5'- AGTAGCCCAGACCAGTAAGG -3'

Sequencing Primer
(F):5'- ACCCTTTTTAAGCGTGGCG -3'
(R):5'- CCAGTAAGGTTGAGCCGG -3'

Posted On

2019-11-12