Incidental Mutation 'IGL01617:Cep68'
ID92415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep68
Ensembl Gene ENSMUSG00000044066
Gene Namecentrosomal protein 68
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL01617
Quality Score
Status
Chromosome11
Chromosomal Location20227037-20249429 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 20239510 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 501 (Q501K)
Ref Sequence ENSEMBL: ENSMUSP00000125113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050611] [ENSMUST00000109596] [ENSMUST00000162811]
Predicted Effect probably benign
Transcript: ENSMUST00000050611
AA Change: Q501K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: Q501K

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
SPEC 605 706 1.28e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109596
AA Change: Q501K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: Q501K

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
SCOP:d1quua1 594 648 1e-2 SMART
Blast:SPEC 605 646 6e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161218
Predicted Effect probably benign
Transcript: ENSMUST00000162811
AA Change: Q501K

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: Q501K

DomainStartEndE-ValueType
low complexity region 178 190 N/A INTRINSIC
low complexity region 311 325 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,115,150 I160F possibly damaging Het
BC037034 A T 5: 138,262,216 L47Q probably damaging Het
Cacna1d C T 14: 30,102,371 A1030T probably damaging Het
Ceacam13 A T 7: 18,011,383 D126V possibly damaging Het
Cfhr1 A T 1: 139,553,679 C154* probably null Het
Chd3 A G 11: 69,358,234 probably benign Het
Chrna5 A G 9: 55,005,013 M262V probably damaging Het
Csrnp2 T C 15: 100,484,643 Y172C probably benign Het
Dzip1 G T 14: 118,881,065 P752Q probably benign Het
Frem1 G A 4: 82,936,139 T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 S400N probably benign Het
Hmcn1 C T 1: 150,672,032 A2723T probably benign Het
Htt A G 5: 34,876,755 H1895R possibly damaging Het
Kif21a T C 15: 90,995,637 probably benign Het
Mitf A G 6: 97,996,428 I241V probably benign Het
Mterf1b A T 5: 4,196,503 D48V probably benign Het
Nmbr G T 10: 14,770,429 R349M probably benign Het
Pik3r4 T C 9: 105,654,965 S579P probably benign Het
Polr2i T C 7: 30,232,392 F16S possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rgs11 A G 17: 26,208,250 H385R probably damaging Het
Rufy4 G A 1: 74,129,354 G99R probably damaging Het
Slc29a1 A G 17: 45,589,449 F185S probably benign Het
Spag17 G A 3: 100,109,508 V2200I possibly damaging Het
Ttc7b G T 12: 100,385,956 A414D possibly damaging Het
Ugt2b37 A T 5: 87,251,879 W257R probably damaging Het
Ythdc2 A G 18: 44,841,415 I381M possibly damaging Het
Other mutations in Cep68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02404:Cep68 APN 11 20240004 missense possibly damaging 0.89
IGL02441:Cep68 APN 11 20239186 missense probably benign 0.01
IGL02554:Cep68 APN 11 20240096 missense possibly damaging 0.61
IGL02732:Cep68 APN 11 20236109 unclassified probably benign
PIT4366001:Cep68 UTSW 11 20240007 missense probably benign 0.21
PIT4418001:Cep68 UTSW 11 20239731 missense probably benign
R0399:Cep68 UTSW 11 20230571 missense probably benign 0.10
R0792:Cep68 UTSW 11 20240652 missense possibly damaging 0.76
R0882:Cep68 UTSW 11 20239393 missense probably benign
R1163:Cep68 UTSW 11 20240539 missense probably damaging 0.99
R1869:Cep68 UTSW 11 20240217 missense probably damaging 1.00
R2023:Cep68 UTSW 11 20239888 missense probably benign
R2901:Cep68 UTSW 11 20240187 missense probably damaging 0.99
R2902:Cep68 UTSW 11 20240187 missense probably damaging 0.99
R4292:Cep68 UTSW 11 20240079 missense probably damaging 0.99
R4393:Cep68 UTSW 11 20238544 missense probably benign 0.01
R4557:Cep68 UTSW 11 20239113 intron probably benign
R4581:Cep68 UTSW 11 20239333 missense probably benign 0.02
R4647:Cep68 UTSW 11 20239349 missense probably benign 0.00
R4887:Cep68 UTSW 11 20239239 missense probably benign 0.15
R5081:Cep68 UTSW 11 20238477 missense probably damaging 0.98
R5658:Cep68 UTSW 11 20241885 critical splice donor site probably null
R6380:Cep68 UTSW 11 20230498 missense probably benign
R7444:Cep68 UTSW 11 20239438 missense probably benign 0.01
R7455:Cep68 UTSW 11 20230571 missense probably damaging 0.99
R7486:Cep68 UTSW 11 20242166 missense probably benign 0.05
R8075:Cep68 UTSW 11 20239335 missense probably benign 0.01
R8388:Cep68 UTSW 11 20230582 missense probably damaging 1.00
R8407:Cep68 UTSW 11 20240446 missense possibly damaging 0.62
R8501:Cep68 UTSW 11 20239132 missense unknown
Posted On2013-12-09