Incidental Mutation 'R4301:Ccdc70'
ID 322411
Institutional Source Beutler Lab
Gene Symbol Ccdc70
Ensembl Gene ENSMUSG00000017049
Gene Name coiled-coil domain containing 70
Synonyms 1700112P19Rik
MMRRC Submission 041088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22459791-22464057 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22463228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 6 (V6A)
Ref Sequence ENSEMBL: ENSMUSP00000069249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017193] [ENSMUST00000070649]
AlphaFold Q9D9B0
Predicted Effect possibly damaging
Transcript: ENSMUST00000017193
AA Change: V6A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000017193
Gene: ENSMUSG00000017049
AA Change: V6A

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 possibly damaging
Transcript: ENSMUST00000070649
AA Change: V6A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069249
Gene: ENSMUSG00000017049
AA Change: V6A

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 0.1597 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Atxn7l1 A G 12: 33,417,237 (GRCm39) D562G probably damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fam193b G A 13: 55,690,417 (GRCm39) R740* probably null Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc30 A G 17: 67,939,563 (GRCm39) S6P probably damaging Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mrtfb T C 16: 13,216,169 (GRCm39) Y294H probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppat G T 5: 77,076,348 (GRCm39) probably benign Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Prickle1 T C 15: 93,406,517 (GRCm39) I169V possibly damaging Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Sptb A G 12: 76,659,471 (GRCm39) L1143S probably damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A probably 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
R2360:Ccdc70 UTSW 8 22,463,447 (GRCm39) missense probably damaging 0.99
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'- TCTCTCACCAATACGATCAAGAGAG -3'
(R):5'- AAAGCCCTGATCTTGCCTCG -3'

Sequencing Primer
(F):5'- TAAATTCTCATATCAGACAGCATGC -3'
(R):5'- GATCTTGCCTCGGAACTCCCAG -3'
Posted On 2015-06-20