Incidental Mutation 'IGL02058:Ccdc126'
ID 185313
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc126
Ensembl Gene ENSMUSG00000050786
Gene Name coiled-coil domain containing 126
Synonyms 6330407D12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02058
Quality Score
Status
Chromosome 6
Chromosomal Location 49296208-49318516 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 49311134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 47 (E47D)
Ref Sequence ENSEMBL: ENSMUSP00000110135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055559] [ENSMUST00000114491]
AlphaFold Q8BIS8
Predicted Effect probably benign
Transcript: ENSMUST00000055559
AA Change: E47D

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000058077
Gene: ENSMUSG00000050786
AA Change: E47D

DomainStartEndE-ValueType
Pfam:DUF4525 3 139 9.6e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114491
AA Change: E47D

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110135
Gene: ENSMUSG00000050786
AA Change: E47D

DomainStartEndE-ValueType
Pfam:DUF4525 2 83 2.6e-45 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C A 2: 69,073,842 (GRCm39) A1228S probably damaging Het
Adamts12 G A 15: 11,215,696 (GRCm39) R239K probably benign Het
Akap6 A G 12: 53,187,338 (GRCm39) D1584G probably damaging Het
Asns A G 6: 7,685,184 (GRCm39) C158R probably damaging Het
Atr T C 9: 95,753,540 (GRCm39) L714P probably damaging Het
Cemip T C 7: 83,646,500 (GRCm39) S183G probably damaging Het
Cntn3 A G 6: 102,176,321 (GRCm39) probably benign Het
Cyp11b2 G T 15: 74,725,038 (GRCm39) N270K probably benign Het
Ephx2 A G 14: 66,341,173 (GRCm39) probably null Het
Fcho2 G A 13: 98,867,414 (GRCm39) T683I probably damaging Het
Grm7 G A 6: 111,335,278 (GRCm39) C563Y probably damaging Het
Hmcn1 T C 1: 150,579,932 (GRCm39) N1935S probably benign Het
Hus1b A G 13: 31,130,900 (GRCm39) L253S probably benign Het
Kmt5b T C 19: 3,843,181 (GRCm39) Y93H probably damaging Het
Krt73 A T 15: 101,710,456 (GRCm39) S93T probably benign Het
Lrp8 T C 4: 107,727,306 (GRCm39) V917A probably benign Het
Map2k6 C T 11: 110,383,409 (GRCm39) T106M probably damaging Het
Ncor1 A G 11: 62,235,463 (GRCm39) S664P probably damaging Het
Nmt1 C T 11: 102,943,116 (GRCm39) T157I probably benign Het
Nup160 T C 2: 90,560,051 (GRCm39) S1259P probably damaging Het
Pak1 C T 7: 97,560,322 (GRCm39) A523V probably damaging Het
Parpbp A C 10: 87,979,898 (GRCm39) S19R probably benign Het
Pdzd2 G T 15: 12,376,382 (GRCm39) T1251N possibly damaging Het
Phaf1 T A 8: 105,966,341 (GRCm39) I105N probably damaging Het
Pitpnm3 A T 11: 72,010,965 (GRCm39) N22K probably benign Het
Pkn1 G T 8: 84,407,854 (GRCm39) C418* probably null Het
Pkn2 A G 3: 142,509,424 (GRCm39) F723L probably damaging Het
Pkp4 C T 2: 59,142,073 (GRCm39) R459* probably null Het
Prex1 A C 2: 166,427,103 (GRCm39) S871A probably benign Het
Ptprz1 A G 6: 23,002,502 (GRCm39) T1531A probably benign Het
Rad1 C A 15: 10,493,361 (GRCm39) Q263K probably benign Het
Sh2d6 C A 6: 72,490,961 (GRCm39) G307* probably null Het
Slc52a3 T A 2: 151,847,811 (GRCm39) N306K probably damaging Het
Spock3 A T 8: 63,698,232 (GRCm39) R195* probably null Het
Stil A G 4: 114,871,359 (GRCm39) S310G probably benign Het
Wbp1l T A 19: 46,640,959 (GRCm39) C80* probably null Het
Wnt2b A G 3: 104,854,408 (GRCm39) V350A probably benign Het
Other mutations in Ccdc126
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Ccdc126 APN 6 49,311,239 (GRCm39) splice site probably benign
IGL02679:Ccdc126 APN 6 49,310,995 (GRCm39) start codon destroyed probably null 0.98
R0564:Ccdc126 UTSW 6 49,311,076 (GRCm39) missense possibly damaging 0.92
R4934:Ccdc126 UTSW 6 49,311,181 (GRCm39) missense probably damaging 1.00
R7070:Ccdc126 UTSW 6 49,316,796 (GRCm39) missense probably damaging 1.00
R7233:Ccdc126 UTSW 6 49,316,775 (GRCm39) missense probably damaging 1.00
R8247:Ccdc126 UTSW 6 49,316,775 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07