Incidental Mutation 'IGL00503:Cabcoco1'
ID332511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cabcoco1
Ensembl Gene ENSMUSG00000019945
Gene Nameciliary associated calcium binding coiled-coil 1
Synonyms1700040L02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL00503
Quality Score
Status
Chromosome10
Chromosomal Location68430953-68541896 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 68541805 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 18 (T18N)
Ref Sequence ENSEMBL: ENSMUSP00000020103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020103]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020103
AA Change: T18N

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945
AA Change: T18N

DomainStartEndE-ValueType
Pfam:CLAMP 93 192 1e-26 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Cabcoco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00644:Cabcoco1 APN 10 68533900 missense probably benign 0.18
IGL02253:Cabcoco1 APN 10 68436277 splice site probably null
R0060:Cabcoco1 UTSW 10 68533862 splice site probably null
R0629:Cabcoco1 UTSW 10 68516278 missense probably damaging 1.00
R0968:Cabcoco1 UTSW 10 68436372 missense probably benign 0.00
R2108:Cabcoco1 UTSW 10 68431323 missense probably benign 0.04
R2154:Cabcoco1 UTSW 10 68431262 missense probably damaging 1.00
R3076:Cabcoco1 UTSW 10 68525645 missense possibly damaging 0.62
R3077:Cabcoco1 UTSW 10 68525645 missense possibly damaging 0.62
R3872:Cabcoco1 UTSW 10 68516278 missense probably damaging 1.00
R4876:Cabcoco1 UTSW 10 68541769 missense probably benign
R6299:Cabcoco1 UTSW 10 68436890 missense probably damaging 0.99
R6460:Cabcoco1 UTSW 10 68516381 missense probably damaging 1.00
R7127:Cabcoco1 UTSW 10 68436330 missense probably benign 0.26
R8509:Cabcoco1 UTSW 10 68431289 missense probably damaging 1.00
Posted On2015-08-05