Incidental Mutation 'IGL03239:Ccdc190'
ID 414200
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 # IGL03239
Quality Score
Status
Chromosome 1
Chromosomal Location 169756217-169762222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 169761549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 217 (R217L)
Ref Sequence ENSEMBL: ENSMUSP00000135819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094348] [ENSMUST00000175731]
AlphaFold Q3URK1
Predicted Effect probably benign
Transcript: ENSMUST00000094348
AA Change: R216L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000091908
Gene: ENSMUSG00000070532
AA Change: R216L

DomainStartEndE-ValueType
coiled coil region 40 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159701
Predicted Effect probably benign
Transcript: ENSMUST00000175731
AA Change: R217L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135819
Gene: ENSMUSG00000070532
AA Change: R217L

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,381,835 (GRCm39) Y309C probably damaging Het
Arvcf G T 16: 18,214,932 (GRCm39) V44L probably damaging Het
Catsperg2 T G 7: 29,397,141 (GRCm39) S1121R probably benign Het
Chd8 G A 14: 52,465,005 (GRCm39) P619S possibly damaging Het
Cyp17a1 A T 19: 46,655,796 (GRCm39) W498R probably damaging Het
Dgka A G 10: 128,557,254 (GRCm39) probably benign Het
Ep300 A G 15: 81,525,589 (GRCm39) D1471G unknown Het
Htr2b A G 1: 86,027,414 (GRCm39) F364S probably damaging Het
Kcnv1 A G 15: 44,972,886 (GRCm39) probably benign Het
Lrrc37a T C 11: 103,390,233 (GRCm39) T1731A probably benign Het
Mylip A G 13: 45,560,101 (GRCm39) E179G possibly damaging Het
Olfm3 A G 3: 114,916,243 (GRCm39) R392G probably damaging Het
Pbk T A 14: 66,054,667 (GRCm39) D266E probably benign Het
Pcdhb13 C A 18: 37,575,888 (GRCm39) L89M probably damaging Het
Pgap4 T C 4: 49,586,034 (GRCm39) Y378C probably damaging Het
Prdm5 T G 6: 65,863,062 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,982,091 (GRCm39) D381G probably damaging Het
Sec24d A G 3: 123,130,138 (GRCm39) N434D probably benign Het
Usp17la C T 7: 104,509,827 (GRCm39) T144I possibly damaging Het
Usp35 T C 7: 96,970,799 (GRCm39) T336A possibly damaging Het
Other mutations in Ccdc190
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Ccdc190 APN 1 169,761,309 (GRCm39) missense probably benign 0.12
IGL01696:Ccdc190 APN 1 169,761,393 (GRCm39) missense probably damaging 0.98
IGL02108:Ccdc190 APN 1 169,761,555 (GRCm39) missense probably damaging 0.99
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 2016-08-02