Incidental Mutation 'IGL01721:Ccdc185'
List |< first << previous [record 5 of 41] next >> last >|
ID105115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc185
Ensembl Gene ENSMUSG00000043429
Gene Namecoiled-coil domain containing 185
Synonyms4922505E12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01721
Quality Score
Status
Chromosome1
Chromosomal Location182747126-182749180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 182748978 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 49 (E49K)
Ref Sequence ENSEMBL: ENSMUSP00000095053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060041]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060041
AA Change: E49K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: E49K

DomainStartEndE-ValueType
low complexity region 117 131 N/A INTRINSIC
Pfam:DUF4659 239 618 3.2e-119 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,139,253 M51V possibly damaging Het
Acad8 A G 9: 26,992,267 probably benign Het
Atp2a2 A G 5: 122,500,792 V53A possibly damaging Het
Bicra T C 7: 15,988,699 T298A probably benign Het
Cfhr2 A G 1: 139,813,614 S208P probably benign Het
Chd1 T C 17: 15,770,168 Y1661H probably damaging Het
Cntnap5a A G 1: 116,157,637 H435R probably benign Het
Cog8 A G 8: 107,054,065 V187A probably benign Het
Col24a1 A G 3: 145,538,567 H1532R probably benign Het
Dpp6 A G 5: 27,631,520 Y336C probably damaging Het
Drosha T A 15: 12,846,112 Y444* probably null Het
Egf A T 3: 129,697,722 C374* probably null Het
Eif2b3 C T 4: 117,058,804 H203Y probably damaging Het
Erbb4 A G 1: 68,254,563 V723A possibly damaging Het
Fbxo21 T C 5: 117,988,790 I202T probably benign Het
Gbp6 T C 5: 105,274,207 M544V probably benign Het
Gm10750 T C 2: 149,016,044 T96A unknown Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm8232 A T 14: 44,437,183 probably null Het
Gsdma3 T C 11: 98,637,956 V412A possibly damaging Het
Hs6st1 A T 1: 36,068,935 H93L probably damaging Het
Hsf2 G A 10: 57,496,181 E77K probably benign Het
Ing3 T A 6: 21,968,880 probably benign Het
Ints6 T C 14: 62,713,739 I280M probably damaging Het
Kazn C A 4: 142,159,043 probably null Het
Klhl20 T C 1: 161,095,587 Y13C probably damaging Het
Krtap26-1 G A 16: 88,647,172 P187L probably damaging Het
Mga T A 2: 119,935,239 I1329K probably damaging Het
Mindy4 A G 6: 55,223,999 D223G probably damaging Het
Ncor2 T C 5: 125,050,937 E124G probably damaging Het
Nfat5 G A 8: 107,344,979 probably null Het
Nkain1 A G 4: 130,532,134 F184L probably benign Het
Olfr1061 T C 2: 86,413,333 T240A probably damaging Het
Rars A T 11: 35,828,664 F110L probably damaging Het
Rfx6 A C 10: 51,723,077 K509N probably damaging Het
Serpinb2 T C 1: 107,515,603 L44P probably damaging Het
Sin3a G A 9: 57,095,325 R167Q probably damaging Het
Sos2 T A 12: 69,603,867 T809S probably damaging Het
Stard9 A G 2: 120,703,330 E3356G probably damaging Het
Vmn1r52 A G 6: 90,178,923 T70A probably benign Het
Other mutations in Ccdc185
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Ccdc185 APN 1 182747423 missense possibly damaging 0.85
IGL01121:Ccdc185 APN 1 182748657 missense probably benign 0.33
IGL01143:Ccdc185 APN 1 182747852 missense probably damaging 0.98
IGL01941:Ccdc185 APN 1 182748204 missense probably benign 0.32
IGL01945:Ccdc185 APN 1 182748876 missense probably benign 0.33
IGL03333:Ccdc185 APN 1 182748833 missense probably damaging 1.00
Ratas UTSW 1 182749017 missense possibly damaging 0.73
Ratones UTSW 1 182747520 missense possibly damaging 0.52
R0486:Ccdc185 UTSW 1 182747859 missense possibly damaging 0.86
R0653:Ccdc185 UTSW 1 182747564 missense possibly damaging 0.52
R1263:Ccdc185 UTSW 1 182747353 nonsense probably null
R1450:Ccdc185 UTSW 1 182747564 missense possibly damaging 0.71
R1464:Ccdc185 UTSW 1 182748698 missense probably benign
R1464:Ccdc185 UTSW 1 182748698 missense probably benign
R2146:Ccdc185 UTSW 1 182747520 missense possibly damaging 0.52
R3409:Ccdc185 UTSW 1 182748748 missense possibly damaging 0.73
R3410:Ccdc185 UTSW 1 182748748 missense possibly damaging 0.73
R3765:Ccdc185 UTSW 1 182747552 missense possibly damaging 0.71
R4012:Ccdc185 UTSW 1 182748888 missense possibly damaging 0.91
R4953:Ccdc185 UTSW 1 182749017 missense possibly damaging 0.73
R5096:Ccdc185 UTSW 1 182748789 missense possibly damaging 0.73
R5166:Ccdc185 UTSW 1 182748999 nonsense probably null
R5300:Ccdc185 UTSW 1 182748080 missense probably benign 0.00
R5504:Ccdc185 UTSW 1 182747627 missense probably damaging 0.97
R5863:Ccdc185 UTSW 1 182748557 missense possibly damaging 0.53
R5928:Ccdc185 UTSW 1 182747482 missense probably benign 0.00
R7127:Ccdc185 UTSW 1 182748856 missense possibly damaging 0.70
R8125:Ccdc185 UTSW 1 182747270 missense probably benign 0.10
R8197:Ccdc185 UTSW 1 182748759 missense possibly damaging 0.93
Z1177:Ccdc185 UTSW 1 182748514 missense possibly damaging 0.72
Posted On2014-01-21