Incidental Mutation 'IGL01696:Ccdc190'
ID104270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc190
Ensembl Gene ENSMUSG00000070532
Gene Namecoiled-coil domain containing 190
Synonyms1700084C01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01696
Quality Score
Status
Chromosome1
Chromosomal Location169928648-169934653 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 169933824 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 165 (K165T)
Ref Sequence ENSEMBL: ENSMUSP00000135819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094348] [ENSMUST00000175731]
Predicted Effect probably damaging
Transcript: ENSMUST00000094348
AA Change: K164T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091908
Gene: ENSMUSG00000070532
AA Change: K164T

DomainStartEndE-ValueType
coiled coil region 40 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159701
Predicted Effect probably damaging
Transcript: ENSMUST00000175731
AA Change: K165T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135819
Gene: ENSMUSG00000070532
AA Change: K165T

DomainStartEndE-ValueType
Pfam:DUF4697 8 275 1.4e-130 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A G 5: 121,500,793 S730P possibly damaging Het
Ano3 T G 2: 110,667,737 D753A probably damaging Het
Apoc4 C T 7: 19,678,184 C113Y probably damaging Het
Arhgdia A G 11: 120,580,376 probably benign Het
Ccdc129 A G 6: 55,897,695 H210R probably benign Het
Ccdc171 A G 4: 83,655,578 T459A possibly damaging Het
Dopey2 T C 16: 93,770,240 V1185A probably benign Het
Ednrb C T 14: 103,823,189 V223I probably benign Het
Ermp1 T C 19: 29,646,138 I151V possibly damaging Het
Gm15737 T A 6: 92,879,821 probably benign Het
Herc3 A G 6: 58,860,386 H348R possibly damaging Het
Immp2l G T 12: 41,628,807 A95S probably damaging Het
Invs A G 4: 48,425,997 Y928C probably damaging Het
Olfr365 A G 2: 37,201,511 E90G probably benign Het
Olfr829 A T 9: 18,857,056 I135L probably benign Het
Olfr893 A C 9: 38,209,049 probably benign Het
Pkd1l2 G T 8: 117,056,387 S731R probably benign Het
Pkhd1l1 T C 15: 44,529,351 M1694T possibly damaging Het
Pld2 C A 11: 70,542,780 R212S probably damaging Het
Plekhg6 A G 6: 125,378,830 F4L probably benign Het
Rps6ka6 T C X: 111,407,517 Q634R probably benign Het
Slc1a3 T C 15: 8,642,338 E378G probably benign Het
Tmem184b T C 15: 79,378,529 T43A possibly damaging Het
Ttn A G 2: 76,746,788 V24587A probably damaging Het
Uba7 T A 9: 107,977,348 L262Q probably damaging Het
Zfp954 G T 7: 7,115,398 H382Q probably damaging Het
Other mutations in Ccdc190
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Ccdc190 APN 1 169933740 missense probably benign 0.12
IGL02108:Ccdc190 APN 1 169933986 missense probably damaging 0.99
IGL03239:Ccdc190 APN 1 169933980 missense probably benign 0.00
IGL03338:Ccdc190 APN 1 169929975 start codon destroyed probably null 0.53
R1341:Ccdc190 UTSW 1 169930017 missense probably damaging 0.99
R4828:Ccdc190 UTSW 1 169933896 missense probably damaging 0.99
R4892:Ccdc190 UTSW 1 169930109 missense possibly damaging 0.95
R5023:Ccdc190 UTSW 1 169933087 missense probably damaging 0.97
R5158:Ccdc190 UTSW 1 169933009 missense probably benign
R6505:Ccdc190 UTSW 1 169933023 nonsense probably null
Posted On2014-01-21