Incidental Mutation 'IGL00392:Ccdc173'
ID7170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc173
Ensembl Gene ENSMUSG00000070883
Gene Namecoiled-coil domain containing 173
Synonyms4930525K21Rik, 4930578N16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL00392
Quality Score
Status
Chromosome2
Chromosomal Location69758033-69789575 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69771984 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 361 (H361R)
Ref Sequence ENSEMBL: ENSMUSP00000092548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094942]
Predicted Effect probably benign
Transcript: ENSMUST00000094942
AA Change: H361R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092548
Gene: ENSMUSG00000070883
AA Change: H361R

DomainStartEndE-ValueType
coiled coil region 47 131 N/A INTRINSIC
Pfam:TPH 142 475 8.9e-22 PFAM
low complexity region 494 508 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik T G 19: 45,940,488 H389P probably benign Het
Alpk3 T C 7: 81,078,009 Y296H possibly damaging Het
Brca2 A G 5: 150,541,240 T1490A probably benign Het
Btaf1 A T 19: 37,009,702 D1732V probably damaging Het
Capzb T C 4: 139,288,947 I273T probably benign Het
Carmil1 G A 13: 24,094,491 T165I probably damaging Het
Cc2d2a A G 5: 43,724,380 probably benign Het
Cdh22 A G 2: 165,112,601 Y667H possibly damaging Het
Celsr1 T A 15: 85,931,345 Q1823L probably benign Het
Cntrl T C 2: 35,137,814 probably benign Het
Dhx15 A T 5: 52,157,582 probably benign Het
Dip2c A T 13: 9,493,108 D30V probably damaging Het
Dyrk2 T C 10: 118,859,844 D503G probably damaging Het
Enpp1 T A 10: 24,645,427 I801F possibly damaging Het
Fnbp4 A C 2: 90,751,622 probably benign Het
Klk1b5 T A 7: 44,216,504 W2R probably benign Het
Lama2 T C 10: 27,188,265 K1240R probably benign Het
Matn2 A G 15: 34,402,856 N409S probably benign Het
Mep1b A T 18: 21,084,186 K121* probably null Het
Mettl26 T C 17: 25,876,124 probably null Het
Myh7 T C 14: 54,987,388 E574G probably damaging Het
Nfkbie G A 17: 45,560,213 probably null Het
Nlrc4 T C 17: 74,446,534 R285G probably benign Het
Pax8 T C 2: 24,443,132 Y66C probably damaging Het
Plxna2 A G 1: 194,800,568 D1523G probably damaging Het
Pou2f1 A G 1: 165,896,590 probably benign Het
Prom1 A G 5: 44,007,021 probably null Het
Ptk6 T C 2: 181,195,818 D436G probably benign Het
Robo4 T A 9: 37,408,229 F592I probably damaging Het
Sec24c C A 14: 20,693,203 S964R probably benign Het
Sgcb G T 5: 73,635,678 N260K possibly damaging Het
Smarcd2 T C 11: 106,265,904 D221G probably damaging Het
Unc13b C T 4: 43,240,285 R3569W probably damaging Het
Zfpl1 C A 19: 6,081,107 R285L possibly damaging Het
Other mutations in Ccdc173
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Ccdc173 APN 2 69782127 splice site probably benign
IGL01801:Ccdc173 APN 2 69776279 splice site probably benign
R0553:Ccdc173 UTSW 2 69789441 missense probably damaging 1.00
R1226:Ccdc173 UTSW 2 69787209 missense possibly damaging 0.63
R1867:Ccdc173 UTSW 2 69781837 splice site probably null
R4821:Ccdc173 UTSW 2 69782108 missense possibly damaging 0.76
R5309:Ccdc173 UTSW 2 69787258 missense possibly damaging 0.92
R5312:Ccdc173 UTSW 2 69787258 missense possibly damaging 0.92
R5916:Ccdc173 UTSW 2 69789462 start codon destroyed probably null 0.95
R6072:Ccdc173 UTSW 2 69772058 missense probably benign 0.31
R6232:Ccdc173 UTSW 2 69772054 missense possibly damaging 0.64
R6236:Ccdc173 UTSW 2 69758041 utr 3 prime probably null
R6909:Ccdc173 UTSW 2 69781848 intron probably null
R7497:Ccdc173 UTSW 2 69758448 missense probably benign 0.04
R7502:Ccdc173 UTSW 2 69776144 missense probably benign
Posted On2012-04-20