Incidental Mutation 'IGL01595:Ccdc68'
ID93399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc68
Ensembl Gene ENSMUSG00000038903
Gene Namecoiled-coil domain containing 68
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01595
Quality Score
Status
Chromosome18
Chromosomal Location69925426-69969484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69956046 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 220 (N220S)
Ref Sequence ENSEMBL: ENSMUSP00000046197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043929] [ENSMUST00000080050]
Predicted Effect probably benign
Transcript: ENSMUST00000043929
AA Change: N220S

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000046197
Gene: ENSMUSG00000038903
AA Change: N220S

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
coiled coil region 86 120 N/A INTRINSIC
coiled coil region 160 223 N/A INTRINSIC
coiled coil region 250 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000080050
SMART Domains Protein: ENSMUSP00000078959
Gene: ENSMUSG00000038903

DomainStartEndE-ValueType
low complexity region 2 8 N/A INTRINSIC
coiled coil region 86 120 N/A INTRINSIC
coiled coil region 160 206 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147221
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 A G 2: 23,078,169 M111V probably damaging Het
Adamts14 A T 10: 61,205,473 H819Q probably damaging Het
Adamts7 T A 9: 90,193,306 N1072K probably benign Het
Ahnak T A 19: 9,003,501 Y716* probably null Het
Arfgef3 T C 10: 18,594,912 K1702E possibly damaging Het
BB014433 C A 8: 15,042,499 probably null Het
Bdnf A T 2: 109,723,928 K176* probably null Het
C2cd5 C T 6: 143,018,022 R879H probably damaging Het
Capn11 T A 17: 45,639,434 H327L probably benign Het
Cftr T C 6: 18,198,239 probably benign Het
Clca2 G A 3: 145,088,007 L296F probably damaging Het
Cubn A T 2: 13,325,216 L2618Q probably benign Het
Gfi1b A G 2: 28,611,417 probably null Het
Gpr37 G T 6: 25,669,573 T424N probably damaging Het
Kank3 G A 17: 33,819,180 probably null Het
Kcnh5 T C 12: 74,898,327 Q716R probably benign Het
Kntc1 G A 5: 123,803,695 M1817I probably benign Het
Krt79 T G 15: 101,931,771 E330A probably damaging Het
Mapk15 C A 15: 75,995,280 P82Q probably benign Het
Myh15 A T 16: 49,172,949 D1649V probably damaging Het
Myo1d T C 11: 80,676,110 I326V probably benign Het
Nek9 A T 12: 85,314,420 W504R probably damaging Het
Nlrp4c T A 7: 6,066,112 C337* probably null Het
Nup160 A G 2: 90,729,737 N1269D probably damaging Het
Olfr250 T C 9: 38,368,050 V168A probably benign Het
Olfr594 A G 7: 103,220,351 D211G probably damaging Het
Olfr661 T C 7: 104,688,078 M21T possibly damaging Het
Pde6a A G 18: 61,281,528 M36V probably damaging Het
Perp A G 10: 18,855,659 Q122R probably damaging Het
S100a7a T C 3: 90,657,800 Y101H probably benign Het
Sbk2 C A 7: 4,957,713 V153L possibly damaging Het
Serpinb7 A T 1: 107,428,322 N25I probably damaging Het
Tbx5 A T 5: 119,840,838 D105V probably damaging Het
Trip6 T A 5: 137,313,413 T101S probably benign Het
Ush2a T A 1: 188,654,724 probably null Het
Other mutations in Ccdc68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02754:Ccdc68 APN 18 69943864 critical splice donor site probably null
IGL02851:Ccdc68 APN 18 69947165 nonsense probably null
R0412:Ccdc68 UTSW 18 69960439 missense probably damaging 1.00
R0617:Ccdc68 UTSW 18 69946552 splice site probably null
R1302:Ccdc68 UTSW 18 69938962 missense probably damaging 1.00
R1497:Ccdc68 UTSW 18 69960514 intron probably benign
R1553:Ccdc68 UTSW 18 69940121 missense probably damaging 1.00
R1590:Ccdc68 UTSW 18 69940180 missense probably benign 0.07
R1748:Ccdc68 UTSW 18 69955991 missense probably benign 0.27
R5589:Ccdc68 UTSW 18 69946506 missense probably benign
R6766:Ccdc68 UTSW 18 69966790 missense probably damaging 1.00
R7096:Ccdc68 UTSW 18 69940170 missense probably damaging 0.96
R7359:Ccdc68 UTSW 18 69956052 missense probably benign 0.02
R7485:Ccdc68 UTSW 18 69969013 missense possibly damaging 0.94
R7849:Ccdc68 UTSW 18 69947175 missense probably damaging 1.00
R8256:Ccdc68 UTSW 18 69938947 nonsense probably null
X0065:Ccdc68 UTSW 18 69961461 missense probably benign 0.17
Z1177:Ccdc68 UTSW 18 69947050 critical splice acceptor site probably null
Posted On2013-12-09