Incidental Mutation 'IGL03235:Ccdc60'
ID414036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc60
Ensembl Gene ENSMUSG00000043913
Gene Namecoiled-coil domain containing 60
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03235
Quality Score
Status
Chromosome5
Chromosomal Location116124641-116288985 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116131146 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 472 (M472L)
Ref Sequence ENSEMBL: ENSMUSP00000049912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050178]
Predicted Effect probably benign
Transcript: ENSMUST00000050178
AA Change: M472L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049912
Gene: ENSMUSG00000043913
AA Change: M472L

DomainStartEndE-ValueType
Pfam:DUF4698 60 535 6.3e-225 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127792
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2b1 A G 11: 83,341,384 N461S probably benign Het
Baz1a A T 12: 54,898,535 V1345E probably damaging Het
Cenpf C T 1: 189,683,927 R67K probably damaging Het
Cfap45 A T 1: 172,538,493 R304S possibly damaging Het
D5Ertd579e T A 5: 36,618,828 probably benign Het
Eefsec T C 6: 88,376,375 D104G probably damaging Het
Eif2ak4 A G 2: 118,443,140 S849G probably damaging Het
Frem1 G A 4: 83,020,755 T30I possibly damaging Het
Glt28d2 A T 3: 85,871,802 H121Q possibly damaging Het
Hacl1 C T 14: 31,631,038 W106* probably null Het
March6 A G 15: 31,485,995 S376P probably damaging Het
Mkrn1 T C 6: 39,401,330 Y289C probably damaging Het
Msl2 A G 9: 101,100,768 T114A probably benign Het
Ntrk3 C A 7: 78,192,592 K829N probably damaging Het
Olfr32 A T 2: 90,139,070 V23E possibly damaging Het
Pcdhgc5 A T 18: 37,820,098 I142F probably damaging Het
Pip5kl1 A G 2: 32,578,154 R153G probably damaging Het
Rgs19 T C 2: 181,689,732 K93R probably benign Het
Slc36a4 T A 9: 15,723,549 V129E probably damaging Het
Spata13 T C 14: 60,751,792 L299P probably damaging Het
Tle2 T C 10: 81,586,251 S353P probably benign Het
Trav13-4-dv7 T C 14: 53,757,841 V84A probably benign Het
Vmn1r8 A T 6: 57,036,761 K266* probably null Het
Wwtr1 C A 3: 57,477,533 V255F probably benign Het
Other mutations in Ccdc60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02838:Ccdc60 APN 5 116134110 missense probably damaging 1.00
IGL03095:Ccdc60 APN 5 116146215 splice site probably benign
R0630:Ccdc60 UTSW 5 116136381 missense possibly damaging 0.75
R0740:Ccdc60 UTSW 5 116190076 missense probably damaging 1.00
R0959:Ccdc60 UTSW 5 116180811 missense probably damaging 0.98
R1061:Ccdc60 UTSW 5 116172468 missense possibly damaging 0.78
R1760:Ccdc60 UTSW 5 116172473 missense probably damaging 0.99
R1940:Ccdc60 UTSW 5 116126165 missense probably damaging 1.00
R1960:Ccdc60 UTSW 5 116146184 missense probably benign 0.36
R2190:Ccdc60 UTSW 5 116157580 missense probably damaging 1.00
R3856:Ccdc60 UTSW 5 116172455 missense probably damaging 1.00
R4866:Ccdc60 UTSW 5 116172490 missense probably damaging 1.00
R5015:Ccdc60 UTSW 5 116288448 missense probably benign 0.00
R6169:Ccdc60 UTSW 5 116137072 missense probably benign 0.16
R6379:Ccdc60 UTSW 5 116131023 critical splice donor site probably null
R7081:Ccdc60 UTSW 5 116126087 missense probably benign 0.20
Posted On2016-08-02