Incidental Mutation 'R6003:Ccdc3'
ID 478449
Institutional Source Beutler Lab
Gene Symbol Ccdc3
Ensembl Gene ENSMUSG00000026676
Gene Name coiled-coil domain containing 3
Synonyms 2310045O21Rik
MMRRC Submission 043252-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6003 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 5142587-5235682 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 5146218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027988]
AlphaFold Q9D6Y1
Predicted Effect probably null
Transcript: ENSMUST00000027988
SMART Domains Protein: ENSMUSP00000027988
Gene: ENSMUSG00000026676

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
coiled coil region 188 250 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180479
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,312 (GRCm39) E157G probably benign Het
Abcb11 T C 2: 69,073,811 (GRCm39) K1238R probably benign Het
Ankar T A 1: 72,738,046 (GRCm39) E45D probably damaging Het
Antxrl G T 14: 33,797,592 (GRCm39) K522N possibly damaging Het
Ap1m1 A G 8: 73,003,011 (GRCm39) Y93C probably damaging Het
As3mt C T 19: 46,696,567 (GRCm39) T35M possibly damaging Het
Aspg T C 12: 112,079,476 (GRCm39) S85P probably damaging Het
Cachd1 T C 4: 100,809,216 (GRCm39) S234P possibly damaging Het
Cnpy1 T C 5: 28,450,759 (GRCm39) T16A probably benign Het
Cope T C 8: 70,757,285 (GRCm39) L43P probably benign Het
E2f8 T C 7: 48,520,525 (GRCm39) M599V probably benign Het
Eif3a A T 19: 60,755,319 (GRCm39) D954E unknown Het
Gfpt1 T A 6: 87,065,230 (GRCm39) probably null Het
Ggps1 T G 13: 14,228,587 (GRCm39) S145R probably benign Het
Gon4l A G 3: 88,803,400 (GRCm39) D1337G probably damaging Het
Gtf2a1l G T 17: 89,001,531 (GRCm39) G82V probably damaging Het
Gucy1b1 C A 3: 81,965,584 (GRCm39) L87F probably damaging Het
Hoxc9 T C 15: 102,890,311 (GRCm39) V76A probably benign Het
Ints2 T C 11: 86,129,294 (GRCm39) E460G probably damaging Het
Kdm4b C T 17: 56,703,916 (GRCm39) R756W probably damaging Het
Lax1 T A 1: 133,611,834 (GRCm39) I34F probably benign Het
Marveld3 A T 8: 110,680,960 (GRCm39) C312S probably damaging Het
Ncoa2 T C 1: 13,237,254 (GRCm39) D824G possibly damaging Het
Nrxn2 C A 19: 6,548,358 (GRCm39) A17D possibly damaging Het
Nup133 A T 8: 124,665,031 (GRCm39) I220N probably damaging Het
Nup205 T C 6: 35,189,751 (GRCm39) V984A probably benign Het
Nup54 A T 5: 92,570,853 (GRCm39) D318E probably damaging Het
Obp2a A T 2: 25,591,151 (GRCm39) K94N probably damaging Het
Or2ak5 A T 11: 58,611,196 (GRCm39) I226N probably benign Het
Or5b3 T C 19: 13,388,403 (GRCm39) S157P probably benign Het
Pappa2 T C 1: 158,763,820 (GRCm39) I564V probably benign Het
Parpbp A G 10: 87,969,020 (GRCm39) V142A possibly damaging Het
Rdh16f2 A T 10: 127,712,201 (GRCm39) R219S probably benign Het
Rfx6 C T 10: 51,584,683 (GRCm39) R228C probably damaging Het
Rpap2 A G 5: 107,749,767 (GRCm39) probably null Het
Rskr T G 11: 78,183,846 (GRCm39) probably null Het
Slc15a2 T C 16: 36,574,910 (GRCm39) I531V probably benign Het
Srebf1 T C 11: 60,097,930 (GRCm39) E58G possibly damaging Het
Tmem214 C A 5: 31,028,068 (GRCm39) T96K possibly damaging Het
Usp19 T C 9: 108,373,579 (GRCm39) Y691H probably damaging Het
Vmn1r86 C T 7: 12,836,125 (GRCm39) W200* probably null Het
Vmn2r8 A T 5: 108,945,248 (GRCm39) S786R probably damaging Het
Vps52 T A 17: 34,175,068 (GRCm39) M1K probably null Het
Zzef1 T A 11: 72,714,891 (GRCm39) probably null Het
Other mutations in Ccdc3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCCTCACCAATGTGTCTGC -3'
(R):5'- CCTTGAGCATGCAATAATGTCC -3'

Sequencing Primer
(F):5'- CCCCTTCAGGATGGATGAGAATTAC -3'
(R):5'- AATGTCCACTAGTATGTGCACTGC -3'
Posted On 2017-06-26