Incidental Mutation 'IGL02108:Ccdc190'
ID280016
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: 0.072) question?
Stock #IGL02108
Quality Score
Status
Chromosome1
Chromosomal Location169928648-169934653 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 169933986 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 219 (D219G)
Ref Sequence ENSEMBL: ENSMUSP00000135819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094348] [ENSMUST00000175731]
Predicted Effect probably damaging
Transcript: ENSMUST00000094348
AA Change: D218G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091908
Gene: ENSMUSG00000070532
AA Change: D218G

DomainStartEndE-ValueType
coiled coil region 40 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159701
Predicted Effect probably damaging
Transcript: ENSMUST00000175731
AA Change: D219G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135819
Gene: ENSMUSG00000070532
AA Change: D219G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,872,311 I369M probably damaging Het
Aff1 T G 5: 103,811,109 probably null Het
Arid1a G T 4: 133,680,516 P2227T unknown Het
Atp12a A T 14: 56,384,068 D720V possibly damaging Het
Auh T C 13: 52,889,097 probably benign Het
Bptf C A 11: 107,074,988 V1012L probably benign Het
Cbr1 T C 16: 93,610,199 F268L probably benign Het
Ccnb1 C T 13: 100,781,157 probably null Het
Cdh19 G T 1: 110,889,731 S760R probably benign Het
Cecr2 G A 6: 120,762,558 probably null Het
Chid1 A T 7: 141,532,928 M1K probably null Het
Dzank1 T C 2: 144,506,223 T208A probably benign Het
Ecm2 T A 13: 49,518,444 Y140* probably null Het
Enox2 A G X: 49,013,516 L533S possibly damaging Het
Fntb A G 12: 76,887,857 E167G possibly damaging Het
Gpihbp1 T C 15: 75,597,612 V92A probably benign Het
Grsf1 C T 5: 88,665,903 R329Q probably benign Het
Gtpbp4 T A 13: 8,985,213 D370V probably benign Het
Hist1h2ab T C 13: 23,751,224 V31A probably benign Het
Klhl14 T A 18: 21,557,920 Y491F probably damaging Het
Lamb3 A T 1: 193,332,222 Q563L probably damaging Het
Lcn2 A T 2: 32,387,605 L124Q probably damaging Het
Mbl1 T C 14: 41,153,651 S21P possibly damaging Het
Myrip G A 9: 120,467,565 probably null Het
Nmur2 T C 11: 56,040,364 T174A probably benign Het
Odf1 C A 15: 38,226,379 Y174* probably null Het
Olfr1024 A T 2: 85,904,150 D301E possibly damaging Het
Olfr877 T A 9: 37,854,938 V40E possibly damaging Het
Olfr969 A T 9: 39,795,512 I46F probably damaging Het
Optn A G 2: 5,031,273 V466A possibly damaging Het
Pde9a G A 17: 31,461,693 S316N probably benign Het
Phf3 A T 1: 30,829,951 I672K probably damaging Het
Pklr A T 3: 89,137,403 I63F probably damaging Het
Plet1 T C 9: 50,499,087 probably benign Het
Pp2d1 T A 17: 53,515,405 D211V probably damaging Het
Ppp6r3 A T 19: 3,492,494 W384R probably damaging Het
Prdm11 T C 2: 92,975,703 I301V probably damaging Het
Prkar1a C T 11: 109,667,525 R357C probably damaging Het
Ptchd1 T C X: 155,573,552 T886A probably damaging Het
Ptpre A T 7: 135,659,102 E156V possibly damaging Het
Ptprq T C 10: 107,646,617 T1032A probably damaging Het
Rras2 A G 7: 114,060,388 I47T probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Sh3rf3 T A 10: 59,135,828 V826E probably damaging Het
Tmem127 T A 2: 127,257,106 S132T probably damaging Het
Tnrc6c C A 11: 117,721,199 P221Q probably benign Het
Tstd3 A T 4: 21,759,366 probably benign Het
Usp46 T G 5: 74,029,206 T55P probably damaging Het
Other mutations in Ccdc190
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Ccdc190 APN 1 169933740 missense probably benign 0.12
IGL01696:Ccdc190 APN 1 169933824 missense probably damaging 0.98
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 On2015-04-16