Incidental Mutation 'IGL02656:Ccdc69'
ID302349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc69
Ensembl Gene ENSMUSG00000049588
Gene Namecoiled-coil domain containing 69
SynonymsD11Ertd461e, 2210021E03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02656
Quality Score
Status
Chromosome11
Chromosomal Location55049731-55078131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 55052437 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 114 (Q114K)
Ref Sequence ENSEMBL: ENSMUSP00000104508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055040] [ENSMUST00000108880]
Predicted Effect possibly damaging
Transcript: ENSMUST00000055040
AA Change: Q114K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054840
Gene: ENSMUSG00000049588
AA Change: Q114K

DomainStartEndE-ValueType
coiled coil region 112 142 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108880
AA Change: Q114K

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104508
Gene: ENSMUSG00000049588
AA Change: Q114K

DomainStartEndE-ValueType
coiled coil region 112 142 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Herc6 T A 6: 57,611,836 probably null Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Ccdc69
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0140:Ccdc69 UTSW 11 55050499 missense possibly damaging 0.83
R0433:Ccdc69 UTSW 11 55052890 splice site probably null
R1334:Ccdc69 UTSW 11 55052979 missense probably damaging 0.96
R1749:Ccdc69 UTSW 11 55051153 missense probably null 1.00
R2013:Ccdc69 UTSW 11 55051157 missense probably benign 0.03
R2082:Ccdc69 UTSW 11 55052389 missense probably damaging 1.00
R5176:Ccdc69 UTSW 11 55060470 missense probably benign 0.00
R5191:Ccdc69 UTSW 11 55052893 critical splice donor site probably null
R5768:Ccdc69 UTSW 11 55055030 missense possibly damaging 0.81
R5896:Ccdc69 UTSW 11 55052890 splice site probably null
R7476:Ccdc69 UTSW 11 55051198 missense possibly damaging 0.89
RF005:Ccdc69 UTSW 11 55060523 missense probably damaging 1.00
RF024:Ccdc69 UTSW 11 55060523 missense probably damaging 1.00
Posted On2015-04-16