Incidental Mutation 'IGL01696:Ccdc190'
ID 104270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc190
Ensembl Gene ENSMUSG00000070532
Gene Name coiled-coil domain containing 190
Synonyms 1700084C01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01696
Quality Score
Status
Chromosome 1
Chromosomal Location 169756217-169762222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 169761393 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3URK1
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: 121,638,856 (GRCm39) S730P possibly damaging Het
Ano3 T G 2: 110,498,082 (GRCm39) D753A probably damaging Het
Apoc4 C T 7: 19,412,109 (GRCm39) C113Y probably damaging Het
Arhgdia A G 11: 120,471,202 (GRCm39) probably benign Het
Ccdc171 A G 4: 83,573,815 (GRCm39) T459A possibly damaging Het
Dop1b T C 16: 93,567,128 (GRCm39) V1185A probably benign Het
Ednrb C T 14: 104,060,625 (GRCm39) V223I probably benign Het
Ermp1 T C 19: 29,623,538 (GRCm39) I151V possibly damaging Het
Gm15737 T A 6: 92,856,802 (GRCm39) probably benign Het
Herc3 A G 6: 58,837,371 (GRCm39) H348R possibly damaging Het
Immp2l G T 12: 41,675,590 (GRCm39) A95S probably damaging Het
Invs A G 4: 48,425,997 (GRCm39) Y928C probably damaging Het
Itprid1 A G 6: 55,874,680 (GRCm39) H210R probably benign Het
Or1l4 A G 2: 37,091,523 (GRCm39) E90G probably benign Het
Or7g17 A T 9: 18,768,352 (GRCm39) I135L probably benign Het
Or8c15 A C 9: 38,120,345 (GRCm39) probably benign Het
Pkd1l2 G T 8: 117,783,126 (GRCm39) S731R probably benign Het
Pkhd1l1 T C 15: 44,392,747 (GRCm39) M1694T possibly damaging Het
Pld2 C A 11: 70,433,606 (GRCm39) R212S probably damaging Het
Plekhg6 A G 6: 125,355,793 (GRCm39) F4L probably benign Het
Rps6ka6 T C X: 110,317,214 (GRCm39) Q634R probably benign Het
Slc1a3 T C 15: 8,671,822 (GRCm39) E378G probably benign Het
Tmem184b T C 15: 79,262,729 (GRCm39) T43A possibly damaging Het
Ttn A G 2: 76,577,132 (GRCm39) V24587A probably damaging Het
Uba7 T A 9: 107,854,547 (GRCm39) L262Q probably damaging Het
Zfp954 G T 7: 7,118,397 (GRCm39) H382Q probably damaging Het
Other mutations in Ccdc190
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Ccdc190 APN 1 169,761,309 (GRCm39) missense probably benign 0.12
IGL02108:Ccdc190 APN 1 169,761,555 (GRCm39) missense probably damaging 0.99
IGL03239:Ccdc190 APN 1 169,761,549 (GRCm39) missense probably benign 0.00
IGL03338:Ccdc190 APN 1 169,757,544 (GRCm39) start codon destroyed probably null 0.53
R1341:Ccdc190 UTSW 1 169,757,586 (GRCm39) missense probably damaging 0.99
R4828:Ccdc190 UTSW 1 169,761,465 (GRCm39) missense probably damaging 0.99
R4892:Ccdc190 UTSW 1 169,757,678 (GRCm39) missense possibly damaging 0.95
R5023:Ccdc190 UTSW 1 169,760,656 (GRCm39) missense probably damaging 0.97
R5158:Ccdc190 UTSW 1 169,760,578 (GRCm39) missense probably benign
R6505:Ccdc190 UTSW 1 169,760,592 (GRCm39) nonsense probably null
R9461:Ccdc190 UTSW 1 169,761,489 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21