Incidental Mutation 'IGL01532:Ccdc70'
ID89804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc70
Ensembl Gene ENSMUSG00000017049
Gene Namecoiled-coil domain containing 70
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01532
Quality Score
Status
Chromosome8
Chromosomal Location21969775-21974041 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 21973283 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Valine at position 30 (L30V)
Ref Sequence ENSEMBL: ENSMUSP00000069249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017193] [ENSMUST00000070649]
Predicted Effect probably damaging
Transcript: ENSMUST00000017193
AA Change: L30V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017193
Gene: ENSMUSG00000017049
AA Change: L30V

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: L30V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069249
Gene: ENSMUSG00000017049
AA Change: L30V

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,908,601 N264K probably damaging Het
Adgrl3 C T 5: 81,694,569 T260I probably damaging Het
Ambra1 G T 2: 91,885,632 K769N probably damaging Het
Arel1 A G 12: 84,934,162 V357A possibly damaging Het
Atp11b T A 3: 35,849,502 C76* probably null Het
AW112010 C A 19: 11,048,069 noncoding transcript Het
Bfar A T 16: 13,687,387 probably benign Het
Chrm5 C T 2: 112,479,232 R513Q probably benign Het
Crem G A 18: 3,276,732 T7I probably benign Het
Cyp4f39 C T 17: 32,470,954 probably benign Het
Dlg5 T C 14: 24,158,592 T849A probably benign Het
Dock8 G T 19: 25,169,441 G1428V probably damaging Het
Eomes T C 9: 118,482,249 I380T probably damaging Het
Fam13a T C 6: 58,940,295 D532G probably damaging Het
Fopnl A G 16: 14,304,511 S130P probably benign Het
Gm10061 G T 16: 89,151,302 *55L probably null Het
Gm27438 T G 2: 87,252,925 probably benign Het
Gpalpp1 T C 14: 76,102,502 K124E probably benign Het
Hgs T A 11: 120,477,509 probably null Het
Hpn T A 7: 31,103,513 M121L possibly damaging Het
Il1r1 T C 1: 40,294,928 probably null Het
Jag2 A T 12: 112,914,363 C583S probably damaging Het
Katnal2 T C 18: 77,012,000 H146R probably benign Het
Ldah T C 12: 8,220,596 probably benign Het
Lvrn T A 18: 46,900,484 Y921N probably damaging Het
Muc5b A G 7: 141,870,006 Y4572C possibly damaging Het
Myo16 A G 8: 10,400,551 S518G probably benign Het
Ncf1 T C 5: 134,226,593 N148S probably benign Het
Nes T G 3: 87,978,347 D1260E possibly damaging Het
Nup210 C A 6: 91,085,999 probably benign Het
Olfr548-ps1 T C 7: 102,542,656 L240P probably damaging Het
Rnf31 C A 14: 55,602,623 Q968K probably damaging Het
Ros1 A G 10: 52,090,938 probably benign Het
Ryk T C 9: 102,897,266 Y400H probably benign Het
Slc4a5 T A 6: 83,273,040 probably null Het
Sptssb A G 3: 69,820,869 probably benign Het
Sstr5 T C 17: 25,491,331 D308G probably damaging Het
Taf2 A G 15: 55,049,486 W493R possibly damaging Het
Vmn2r28 T A 7: 5,486,464 I459L probably benign Het
Vti1b A C 12: 79,165,138 L1W probably null Het
Wdr1 T C 5: 38,535,187 Y125C probably damaging Het
Other mutations in Ccdc70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Ccdc70 APN 8 21973674 missense probably damaging 1.00
IGL01551:Ccdc70 APN 8 21973595 missense possibly damaging 0.90
R0718:Ccdc70 UTSW 8 21973308 missense probably damaging 1.00
R2360:Ccdc70 UTSW 8 21973431 missense probably damaging 0.99
R4301:Ccdc70 UTSW 8 21973212 missense possibly damaging 0.67
R4999:Ccdc70 UTSW 8 21973250 missense possibly damaging 0.89
R6773:Ccdc70 UTSW 8 21973305 missense probably damaging 0.99
Posted On2013-12-03