Incidental Mutation 'IGL02554:Cep68'
ID298434
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: 0.211) question?
Stock #IGL02554
Quality Score
Status
Chromosome11
Chromosomal Location20227037-20249429 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20240096 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 305 (H305Q)
Ref Sequence ENSEMBL: ENSMUSP00000125113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050611] [ENSMUST00000109596] [ENSMUST00000162811]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050611
AA Change: H305Q

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000054943
Gene: ENSMUSG00000044066
AA Change: H305Q

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 possibly damaging
Transcript: ENSMUST00000109596
AA Change: H305Q

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105225
Gene: ENSMUSG00000044066
AA Change: H305Q

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 possibly damaging
Transcript: ENSMUST00000162811
AA Change: H305Q

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125113
Gene: ENSMUSG00000044066
AA Change: H305Q

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408B17Rik A G 18: 34,593,015 S112P probably benign Het
9930111J21Rik1 T A 11: 48,948,003 M586L probably damaging Het
Abcg3 T C 5: 104,969,452 D204G possibly damaging Het
Acox3 C A 5: 35,608,366 L588I probably damaging Het
Adamts9 G T 6: 92,880,847 L849I probably benign Het
Alkbh3 T G 2: 93,996,347 T170P probably damaging Het
Anks1b A T 10: 90,921,378 H300L probably damaging Het
Arhgap29 T C 3: 121,992,524 probably benign Het
Cd86 C T 16: 36,618,485 G181D probably benign Het
Clptm1l A T 13: 73,607,760 D165V probably benign Het
Dctn1 T C 6: 83,182,722 Y61H probably damaging Het
Dnah7a A T 1: 53,618,046 M857K possibly damaging Het
Gpr158 A G 2: 21,826,596 M836V probably benign Het
Gria1 G T 11: 57,289,488 A755S possibly damaging Het
Helb G A 10: 120,089,712 T920M probably damaging Het
Hr T C 14: 70,559,866 probably benign Het
Igf2bp1 A G 11: 95,974,168 S152P probably damaging Het
Iqsec1 T C 6: 90,669,345 Y784C probably damaging Het
Ldah T A 12: 8,283,935 C275* probably null Het
Lpin3 T C 2: 160,896,787 S220P probably damaging Het
Med23 T C 10: 24,898,575 probably null Het
Mllt1 T C 17: 56,899,806 D346G probably benign Het
Myef2 A C 2: 125,100,425 probably null Het
Myh2 A G 11: 67,189,165 S1095G probably benign Het
Nav1 A G 1: 135,584,913 silent Het
Olfr512 A G 7: 108,713,742 M118V possibly damaging Het
Piwil2 G A 14: 70,391,486 probably benign Het
Pkhd1l1 T A 15: 44,578,500 F3612I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
S100pbp A T 4: 129,181,851 probably null Het
Scnn1b T C 7: 121,917,523 I495T probably damaging Het
Sgo2b A C 8: 63,926,537 V1087G probably damaging Het
Sil1 A T 18: 35,348,733 V91E probably damaging Het
Slc5a4b A G 10: 76,110,851 I29T possibly damaging Het
Spink5 A T 18: 44,015,594 N908I probably benign Het
Svopl A C 6: 38,017,043 I351S probably damaging Het
Syngr3 A G 17: 24,686,328 V198A probably benign Het
Tbck C A 3: 132,751,192 Y622* probably null Het
Tex33 A G 15: 78,378,536 M245T possibly damaging Het
Tkt T A 14: 30,558,780 M56K probably damaging Het
Trip10 T C 17: 57,263,135 V544A probably damaging Het
Txndc16 T C 14: 45,172,538 E195G probably damaging Het
Vmn2r69 G A 7: 85,409,806 P516S probably damaging Het
Vmn2r74 T C 7: 85,957,373 N255S probably benign Het
Xpo4 T C 14: 57,590,088 T884A probably benign Het
Zdhhc2 A G 8: 40,462,114 N167S probably damaging Het
Other mutations in Cep68
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01617:Cep68 APN 11 20239510 missense probably benign 0.14
IGL02404:Cep68 APN 11 20240004 missense possibly damaging 0.89
IGL02441:Cep68 APN 11 20239186 missense probably benign 0.01
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
Posted On2015-04-16