Incidental Mutation 'R2360:Ccdc70'
ID 247113
Institutional Source Beutler Lab
Gene Symbol Ccdc70
Ensembl Gene ENSMUSG00000017049
Gene Name coiled-coil domain containing 70
Synonyms 1700112P19Rik
MMRRC Submission 040342-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2360 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22459791-22464057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22463447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 79 (E79G)
Ref Sequence ENSEMBL: ENSMUSP00000069249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017193] [ENSMUST00000070649]
AlphaFold Q9D9B0
Predicted Effect probably damaging
Transcript: ENSMUST00000017193
AA Change: E79G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017193
Gene: ENSMUSG00000017049
AA Change: E79G

DomainStartEndE-ValueType
low complexity region 75 98 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 188 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000070649
AA Change: E79G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069249
Gene: ENSMUSG00000017049
AA Change: E79G

DomainStartEndE-ValueType
low complexity region 75 98 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 188 N/A INTRINSIC
Meta Mutation Damage Score 0.1834 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 93% (37/40)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,214 (GRCm39) noncoding transcript Het
Abca14 A G 7: 119,850,431 (GRCm39) E761G probably benign Het
Apc C T 18: 34,394,179 (GRCm39) T35I probably damaging Het
Arhgef2 T A 3: 88,541,723 (GRCm39) I228N probably damaging Het
Atp6v1g2 A G 17: 35,456,638 (GRCm39) E74G probably damaging Het
Cdc42ep4 A G 11: 113,619,528 (GRCm39) S288P probably damaging Het
Cip2a C T 16: 48,837,828 (GRCm39) Q843* probably null Het
Cpn2 T C 16: 30,078,321 (GRCm39) D460G probably benign Het
Crtam A G 9: 40,884,811 (GRCm39) *393Q probably null Het
Cwc22 A G 2: 77,757,591 (GRCm39) I179T probably damaging Het
Cyp3a41b T C 5: 145,507,221 (GRCm39) M240V probably benign Het
Dnah8 A T 17: 30,896,178 (GRCm39) D864V probably benign Het
Map3k7 T C 4: 31,964,302 (GRCm39) S14P unknown Het
Med25 A G 7: 44,534,566 (GRCm39) S150P probably damaging Het
Mex3b T C 7: 82,517,070 (GRCm39) V71A probably benign Het
Morc3 T C 16: 93,638,275 (GRCm39) L19S probably damaging Het
Morn1 T A 4: 155,176,770 (GRCm39) S98T probably damaging Het
Mthfd1l G T 10: 4,006,771 (GRCm39) A678S probably damaging Het
Napa A G 7: 15,848,083 (GRCm39) Y200C probably damaging Het
Nr5a2 T C 1: 136,876,565 (GRCm39) I33V probably benign Het
Or14j6 A G 17: 38,215,345 (GRCm39) K303E possibly damaging Het
Pcnx1 A G 12: 81,996,960 (GRCm39) D952G probably damaging Het
Phf20l1 G A 15: 66,466,769 (GRCm39) R66Q probably damaging Het
Resf1 A G 6: 149,236,145 (GRCm39) I1488M probably benign Het
Rfk A G 19: 17,375,960 (GRCm39) T85A probably benign Het
Sbno2 T C 10: 79,893,855 (GRCm39) D1179G possibly damaging Het
Serpina3k C T 12: 104,307,166 (GRCm39) Q133* probably null Het
Setd4 T C 16: 93,383,122 (GRCm39) probably benign Het
Sh2d4b C T 14: 40,582,548 (GRCm39) probably null Het
Slc1a6 G A 10: 78,648,718 (GRCm39) V480I possibly damaging Het
Slc39a3 A T 10: 80,867,104 (GRCm39) V214E possibly damaging Het
Tll1 A G 8: 64,504,435 (GRCm39) Y654H probably damaging Het
Traf3ip1 T A 1: 91,427,374 (GRCm39) C115S unknown Het
Vmn1r209 T A 13: 22,989,836 (GRCm39) I285F probably damaging Het
Vmn2r87 G T 10: 130,315,631 (GRCm39) T145K probably damaging Het
Zan T C 5: 137,394,388 (GRCm39) T4484A unknown Het
Zfp768 T C 7: 126,943,810 (GRCm39) E106G probably benign Het
Zfp984 A G 4: 147,839,234 (GRCm39) I539T possibly damaging Het
Other mutations in Ccdc70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Ccdc70 APN 8 22,463,690 (GRCm39) missense probably damaging 1.00
IGL01532:Ccdc70 APN 8 22,463,299 (GRCm39) missense probably damaging 1.00
IGL01551:Ccdc70 APN 8 22,463,611 (GRCm39) missense possibly damaging 0.90
R0718:Ccdc70 UTSW 8 22,463,324 (GRCm39) missense probably damaging 1.00
R4301:Ccdc70 UTSW 8 22,463,228 (GRCm39) missense possibly damaging 0.67
R4999:Ccdc70 UTSW 8 22,463,266 (GRCm39) missense possibly damaging 0.89
R6773:Ccdc70 UTSW 8 22,463,321 (GRCm39) missense probably damaging 0.99
R9666:Ccdc70 UTSW 8 22,463,357 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CCTTCAAGGTGAGCAAGTGG -3'
(R):5'- AGAAGATTCCGGTCTCTTTCC -3'

Sequencing Primer
(F):5'- CAAGTGGATGGGACTGGCC -3'
(R):5'- AAGATTCCGGTCTCTTTCCCATAAAG -3'
Posted On 2014-10-30