Incidental Mutation 'R4892:Ccdc190'
ID 377332
Institutional Source Beutler Lab
Gene Symbol Ccdc190
Ensembl Gene ENSMUSG00000070532
Gene Name coiled-coil domain containing 190
Synonyms 1700084C01Rik
MMRRC Submission 042497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R4892 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 169756217-169762222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 169757678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 46 (L46I)
Ref Sequence ENSEMBL: ENSMUSP00000135819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094348] [ENSMUST00000175731]
AlphaFold Q3URK1
Predicted Effect possibly damaging
Transcript: ENSMUST00000094348
AA Change: L46I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091908
Gene: ENSMUSG00000070532
AA Change: L46I

DomainStartEndE-ValueType
coiled coil region 40 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159701
Predicted Effect possibly damaging
Transcript: ENSMUST00000175731
AA Change: L46I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135819
Gene: ENSMUSG00000070532
AA Change: L46I

DomainStartEndE-ValueType
Pfam:DUF4697 8 275 1.4e-130 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,236,431 (GRCm39) T1128A probably benign Het
Apol11a A T 15: 77,401,190 (GRCm39) K226* probably null Het
Atp4a A G 7: 30,411,899 (GRCm39) M45V probably benign Het
Babam1 T A 8: 71,855,696 (GRCm39) M263K probably benign Het
Capn11 GACA GA 17: 45,944,023 (GRCm39) probably null Het
Cep131 C T 11: 119,958,883 (GRCm39) R717H probably damaging Het
Cpt1c A G 7: 44,609,012 (GRCm39) F770L probably benign Het
Dhx30 A T 9: 109,914,924 (GRCm39) probably null Het
Dido1 G A 2: 180,316,822 (GRCm39) Q662* probably null Het
Dip2a T C 10: 76,116,593 (GRCm39) E910G probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fmo3 T A 1: 162,796,300 (GRCm39) I91F probably benign Het
Gdap1 A C 1: 17,230,218 (GRCm39) D217A possibly damaging Het
Grm1 T C 10: 10,595,331 (GRCm39) S766G possibly damaging Het
Kat8 T A 7: 127,514,710 (GRCm39) I123N possibly damaging Het
Kcnt2 C A 1: 140,440,763 (GRCm39) S23* probably null Het
Krt73 G A 15: 101,704,244 (GRCm39) T432I probably damaging Het
Lgals9 T A 11: 78,856,909 (GRCm39) I223L probably benign Het
Mpo T A 11: 87,693,507 (GRCm39) N48K probably benign Het
Myo9a T G 9: 59,731,525 (GRCm39) H632Q probably damaging Het
Or2y1c C A 11: 49,361,043 (GRCm39) Q22K probably benign Het
Or9s27 A G 1: 92,516,643 (GRCm39) N197S probably benign Het
Prelid2 A G 18: 42,084,209 (GRCm39) F11S possibly damaging Het
Setd1a G T 7: 127,377,696 (GRCm39) V57L probably damaging Het
Sgip1 A G 4: 102,823,431 (GRCm39) D704G probably damaging Het
Spryd3 T C 15: 102,026,537 (GRCm39) E378G probably benign Het
Stk17b A T 1: 53,810,770 (GRCm39) Y112N probably damaging Het
Syndig1 A T 2: 149,741,811 (GRCm39) K132N probably damaging Het
Tcf20 C T 15: 82,738,400 (GRCm39) R1017Q possibly damaging Het
Tenm3 T A 8: 48,729,896 (GRCm39) D1370V probably damaging Het
Tnrc6a C T 7: 122,769,134 (GRCm39) T308I probably damaging Het
Ttc29 T C 8: 79,060,274 (GRCm39) V398A probably damaging Het
Ubr4 A G 4: 139,155,828 (GRCm39) T2218A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGCCACCATGCTGACCTTG -3'
(R):5'- ACGCAGCTACCTGATAATGTTAATG -3'

Sequencing Primer
(F):5'- ATGCTGACCTTGTTCTTTCAGG -3'
(R):5'- TGTTAATGAGCATCCCACCGTGAG -3'
Posted On 2016-03-17