Incidental Mutation 'IGL03333:Ccdc185'
ID416938
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: 0.066) question?
Stock #IGL03333
Quality Score
Status
Chromosome1
Chromosomal Location182747126-182749180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 182748833 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Valine at position 97 (G97V)
Ref Sequence ENSEMBL: ENSMUSP00000095053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060041]
Predicted Effect probably damaging
Transcript: ENSMUST00000060041
AA Change: G97V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: G97V

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,726,732 M893V probably benign Het
Cep170 T C 1: 176,769,526 T422A possibly damaging Het
Ckap2l A C 2: 129,296,308 probably null Het
Cpa3 A G 3: 20,215,828 Y411H possibly damaging Het
Dnah2 C A 11: 69,495,123 R1011L probably damaging Het
Efnb2 T A 8: 8,639,275 K30* probably null Het
Ep400 C T 5: 110,703,566 R1350H unknown Het
Epha6 T C 16: 59,682,688 D952G probably damaging Het
Exoc7 C A 11: 116,301,161 V195L probably benign Het
Fbxw8 T C 5: 118,095,595 M324V possibly damaging Het
Fchsd2 T C 7: 101,198,496 S198P probably damaging Het
Gcdh T C 8: 84,891,071 T202A probably benign Het
Gm6619 G A 6: 131,490,508 probably benign Het
Itpr1 A T 6: 108,380,910 probably benign Het
Kif2c A C 4: 117,180,636 V31G possibly damaging Het
Kpna7 T C 5: 145,005,955 I74V possibly damaging Het
Lvrn G A 18: 46,864,664 probably benign Het
Man2b2 T A 5: 36,816,139 I499F probably damaging Het
Mmd2 G T 5: 142,567,938 probably benign Het
Olfr449 T A 6: 42,838,703 I274N possibly damaging Het
Olfr458 T C 6: 42,460,839 Y60C probably damaging Het
Olfr746 C T 14: 50,653,398 Q54* probably null Het
Olfr971 T A 9: 39,840,012 Y193N probably damaging Het
Parp14 A G 16: 35,841,430 S1412P probably benign Het
Prr30 A T 14: 101,198,391 V245E possibly damaging Het
Ros1 T A 10: 52,155,171 D458V probably damaging Het
Sec22c A G 9: 121,688,218 L138P probably damaging Het
Sema6d C A 2: 124,664,370 H699Q possibly damaging Het
Spata17 A T 1: 187,140,470 M1K probably null Het
Tpr T A 1: 150,426,967 D1331E probably benign Het
Ttc4 A G 4: 106,676,631 Y120H probably benign Het
Tubgcp4 A G 2: 121,196,173 probably null Het
Usp19 T A 9: 108,494,149 M285K probably benign Het
Vmn1r222 A T 13: 23,233,007 F12Y probably benign Het
Vmn2r72 T C 7: 85,750,867 K325E probably benign Het
Vps33b T C 7: 80,274,225 probably benign Het
Zfp784 C T 7: 5,036,352 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
IGL01721:Ccdc185 APN 1 182748978 missense possibly damaging 0.53
IGL01941:Ccdc185 APN 1 182748204 missense probably benign 0.32
IGL01945:Ccdc185 APN 1 182748876 missense probably benign 0.33
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
Z1177:Ccdc185 UTSW 1 182748514 missense possibly damaging 0.72
Posted On2016-08-02