Incidental Mutation 'IGL01143:Ccdc185'
ID50345
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: 0.067) question?
Stock #IGL01143
Quality Score
Status
Chromosome1
Chromosomal Location182747126-182749180 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 182747852 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 424 (L424Q)
Ref Sequence ENSEMBL: ENSMUSP00000095053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060041]
Predicted Effect probably damaging
Transcript: ENSMUST00000060041
AA Change: L424Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095053
Gene: ENSMUSG00000043429
AA Change: L424Q

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 A G 3: 151,500,229 probably null Het
Adgrv1 A C 13: 81,419,351 D5234E probably benign Het
Bmp7 G T 2: 172,879,482 H267N probably benign Het
Btbd11 A T 10: 85,654,471 probably benign Het
Ccdc113 T C 8: 95,534,260 V30A probably damaging Het
Cep192 T A 18: 67,804,375 D58E probably damaging Het
Ces1f C T 8: 93,271,830 probably null Het
Chaf1a T A 17: 56,063,336 D600E possibly damaging Het
Cndp2 A G 18: 84,677,317 probably null Het
Dnah11 T A 12: 118,012,740 D2727V probably damaging Het
Dync1li2 T C 8: 104,429,453 D252G probably damaging Het
Ephx2 C T 14: 66,089,522 R408Q probably damaging Het
Fat1 C A 8: 45,035,532 T3427K possibly damaging Het
Gal3st4 A G 5: 138,271,402 M1T probably null Het
Gm5828 T C 1: 16,769,948 noncoding transcript Het
Gm7694 C T 1: 170,302,825 M1I probably null Het
Gpatch1 A G 7: 35,301,572 probably benign Het
Grik1 G T 16: 87,957,600 probably null Het
Gtf2ird2 A G 5: 134,196,553 T161A possibly damaging Het
Hk2 T C 6: 82,729,552 I790V possibly damaging Het
Ints9 G A 14: 65,037,421 V609I probably benign Het
Kcnq4 T G 4: 120,698,623 D585A probably damaging Het
Large2 T C 2: 92,366,339 Y464C probably damaging Het
Lpar6 G A 14: 73,238,637 D13N probably damaging Het
Morn1 T C 4: 155,092,304 Y132H probably damaging Het
Nphp1 C T 2: 127,780,136 V24I probably benign Het
Olfr1141 T C 2: 87,753,934 N20D probably benign Het
Olfr1457 A T 19: 13,095,112 F179I probably damaging Het
Olfr905 G T 9: 38,473,042 M98I possibly damaging Het
Pcdhb13 T C 18: 37,442,637 W23R probably benign Het
Plekhg3 T C 12: 76,564,982 probably null Het
Slx4 T C 16: 3,990,888 K396R probably benign Het
Snx13 A G 12: 35,132,160 D736G probably damaging Het
Spag17 A G 3: 99,939,298 D46G probably benign Het
Spata31 T G 13: 64,920,816 Y259* probably null Het
Synj1 T C 16: 90,951,976 E1064G probably damaging Het
Tom1 A G 8: 75,058,457 T81A probably benign Het
Ttc23l A G 15: 10,530,689 I279T probably damaging Het
Ttc39a T C 4: 109,442,813 probably null Het
Vmn2r108 C A 17: 20,462,465 A826S possibly damaging Het
Zyg11b A T 4: 108,244,994 V510E possibly damaging 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
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
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 On2013-06-21