Incidental Mutation 'R6773:Ccdc70'
ID 532246
Institutional Source Beutler Lab
Gene Symbol Ccdc70
Ensembl Gene ENSMUSG00000017049
Gene Name coiled-coil domain containing 70
Synonyms 1700112P19Rik
MMRRC Submission 044889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6773 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 22459791-22464057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22463321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 37 (E37G)
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: E37G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017193
Gene: ENSMUSG00000017049
AA Change: E37G

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: E37G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069249
Gene: ENSMUSG00000017049
AA Change: E37G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T A 3: 92,336,556 (GRCm39) I49F probably damaging Het
Aqp6 A G 15: 99,500,558 (GRCm39) D161G probably damaging Het
Aqr A T 2: 113,979,477 (GRCm39) N319K possibly damaging Het
Asns C A 6: 7,676,284 (GRCm39) R424L probably benign Het
Atp4a T C 7: 30,414,802 (GRCm39) V197A probably damaging Het
Ccdc88b A T 19: 6,826,409 (GRCm39) V1102E possibly damaging Het
Cd82 G A 2: 93,252,221 (GRCm39) A130V probably benign Het
Cfap46 T C 7: 139,222,477 (GRCm39) probably benign Het
Cnot6l A C 5: 96,242,158 (GRCm39) C188W probably damaging Het
Cxcr6 A T 9: 123,639,355 (GRCm39) T119S possibly damaging Het
Dok7 G A 5: 35,234,528 (GRCm39) R193H probably damaging Het
Dpy19l1 A T 9: 24,352,068 (GRCm39) S386T probably damaging Het
Frem3 A C 8: 81,338,444 (GRCm39) T246P probably damaging Het
Gm29666 A T 15: 84,798,360 (GRCm39) I67K unknown Het
Gpr153 T A 4: 152,363,757 (GRCm39) V59E probably damaging Het
Inpp4b G A 8: 82,583,249 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,482 (GRCm39) I247V possibly damaging Het
Klri1 C T 6: 129,680,510 (GRCm39) V91M possibly damaging Het
M1ap T A 6: 82,945,061 (GRCm39) D118E probably damaging Het
Map4 T C 9: 109,863,993 (GRCm39) V406A probably benign Het
Nedd4l T C 18: 65,300,622 (GRCm39) V369A probably benign Het
Or5ac24 A T 16: 59,165,579 (GRCm39) L162I probably damaging Het
Otud4 A G 8: 80,370,435 (GRCm39) Y71C possibly damaging Het
Plcl1 A G 1: 55,790,461 (GRCm39) N1044D probably benign Het
Ppp4r3b T A 11: 29,155,639 (GRCm39) M114K probably benign Het
Prune1 T C 3: 95,171,082 (GRCm39) D114G probably damaging Het
Rad54l2 A T 9: 106,570,516 (GRCm39) V1268D probably benign Het
Rbbp6 A G 7: 122,598,578 (GRCm39) probably benign Het
Rimbp3 A T 16: 17,026,879 (GRCm39) E101V probably damaging Het
Rit1 C T 3: 88,633,676 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Shisa9 A G 16: 11,802,892 (GRCm39) T150A probably damaging Het
Smpdl3a T C 10: 57,678,533 (GRCm39) V112A probably damaging Het
Strada T A 11: 106,055,733 (GRCm39) I305F probably damaging Het
Svep1 C T 4: 58,049,146 (GRCm39) E3454K possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tmem259 T C 10: 79,813,422 (GRCm39) D519G possibly damaging Het
Tns1 T C 1: 73,958,866 (GRCm39) Q445R probably damaging Het
Topbp1 A G 9: 103,220,891 (GRCm39) D20G possibly damaging Het
Trbv5 G T 6: 41,039,551 (GRCm39) W52L probably damaging Het
Trpc6 A T 9: 8,634,058 (GRCm39) H379L probably damaging Het
Tulp1 T C 17: 28,581,876 (GRCm39) K193E probably damaging Het
Unc80 T C 1: 66,690,702 (GRCm39) V2459A probably benign Het
Vps50 T C 6: 3,592,560 (GRCm39) V731A probably benign 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
R2360:Ccdc70 UTSW 8 22,463,447 (GRCm39) missense probably damaging 0.99
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
R9666:Ccdc70 UTSW 8 22,463,357 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TCACAGGGTTTGGCCAACTG -3'
(R):5'- AAGTCTTCTCTTCTTCCCGGAAAG -3'

Sequencing Primer
(F):5'- TTTGGCCAACTGACCTGGAC -3'
(R):5'- GAAAGATTTTTCCATTTCCCAGAAGG -3'
Posted On 2018-08-29