Incidental Mutation 'IGL02317:Cep85'
ID288064
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep85
Ensembl Gene ENSMUSG00000037443
Gene Namecentrosomal protein 85
Synonyms2410030J07Rik, Ccdc21
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #IGL02317
Quality Score
Status
Chromosome4
Chromosomal Location134129858-134187112 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 134155811 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 256 (G256R)
Ref Sequence ENSEMBL: ENSMUSP00000113351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040271] [ENSMUST00000121566] [ENSMUST00000137388]
Predicted Effect probably damaging
Transcript: ENSMUST00000040271
AA Change: G256R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: G256R

DomainStartEndE-ValueType
coiled coil region 333 656 N/A INTRINSIC
coiled coil region 725 749 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121566
AA Change: G256R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: G256R

DomainStartEndE-ValueType
coiled coil region 331 654 N/A INTRINSIC
coiled coil region 723 747 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145531
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,047,006 noncoding transcript Het
Aak1 C T 6: 86,956,300 P418S possibly damaging Het
Abca5 T A 11: 110,327,761 Q93L probably benign Het
Arhgap22 G T 14: 33,359,273 V209L probably damaging Het
Atp6v1h G T 1: 5,084,470 R7L possibly damaging Het
Ccdc86 T C 19: 10,943,192 Q420R possibly damaging Het
Csmd2 T C 4: 128,463,727 probably benign Het
Dck T C 5: 88,774,083 Y135H probably damaging Het
Dicer1 T C 12: 104,697,020 E1434G probably damaging Het
Dst C T 1: 34,295,163 T4824I probably damaging Het
Fam20c G A 5: 138,806,360 R404H probably damaging Het
Fat1 G A 8: 45,025,818 A2611T probably benign Het
Fbxl13 C T 5: 21,522,234 C555Y probably benign Het
Gm8298 A G 3: 59,876,987 N294D probably benign Het
Gprc6a C A 10: 51,620,953 R323L probably benign Het
Grik2 A G 10: 49,422,615 F50L probably benign Het
Ibsp A G 5: 104,302,466 Y50C probably damaging Het
Il16 T A 7: 83,666,889 H437L probably damaging Het
Irf9 G A 14: 55,607,739 R352H probably damaging Het
Jph1 T C 1: 17,003,923 T624A probably benign Het
Lama5 T C 2: 180,191,319 Y1574C probably damaging Het
Lrrc26 A G 2: 25,290,302 N105S probably damaging Het
Megf8 C A 7: 25,363,788 T2523K probably damaging Het
Nckap1l A G 15: 103,461,578 I135V probably benign Het
Olfr1033 T C 2: 86,041,569 S85P probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr71 T C 4: 43,706,172 Y132C probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Oma1 A G 4: 103,319,037 probably benign Het
Opa1 T G 16: 29,615,166 probably null Het
Rab11b C T 17: 33,749,816 A43T probably damaging Het
Rabl2 A T 15: 89,584,289 N133K probably damaging Het
Scn10a C T 9: 119,638,555 V840I probably benign Het
Spata31d1b T C 13: 59,718,040 S1001P probably damaging Het
Tbc1d8 T C 1: 39,376,904 E896G probably benign Het
Ube2o T C 11: 116,541,563 E859G probably damaging Het
Vmn1r197 A G 13: 22,327,903 probably benign Het
Vmn2r58 A G 7: 41,837,341 I710T possibly damaging Het
Zmynd8 T C 2: 165,820,572 T533A possibly damaging Het
Other mutations in Cep85
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Cep85 APN 4 134148761 missense possibly damaging 0.63
IGL01397:Cep85 APN 4 134156206 missense probably damaging 1.00
IGL01472:Cep85 APN 4 134134166 missense possibly damaging 0.55
IGL01522:Cep85 APN 4 134152255 missense probably damaging 1.00
IGL01522:Cep85 APN 4 134152256 missense probably damaging 1.00
IGL02004:Cep85 APN 4 134167387 missense probably damaging 1.00
IGL02043:Cep85 APN 4 134155727 missense probably benign 0.02
IGL02187:Cep85 APN 4 134131305 missense possibly damaging 0.86
IGL02543:Cep85 APN 4 134156323 missense possibly damaging 0.52
1mM(1):Cep85 UTSW 4 134156264 missense possibly damaging 0.88
PIT4468001:Cep85 UTSW 4 134148697 missense probably damaging 1.00
R0060:Cep85 UTSW 4 134167300 missense probably damaging 1.00
R0068:Cep85 UTSW 4 134154295 missense probably benign 0.00
R0346:Cep85 UTSW 4 134132422 missense probably damaging 1.00
R0462:Cep85 UTSW 4 134131421 missense possibly damaging 0.88
R1295:Cep85 UTSW 4 134167400 missense probably damaging 1.00
R1296:Cep85 UTSW 4 134167400 missense probably damaging 1.00
R1472:Cep85 UTSW 4 134167400 missense probably damaging 1.00
R1577:Cep85 UTSW 4 134152288 missense probably damaging 1.00
R1681:Cep85 UTSW 4 134148728 nonsense probably null
R1687:Cep85 UTSW 4 134148013 missense probably benign 0.00
R2031:Cep85 UTSW 4 134132450 missense probably benign 0.00
R2216:Cep85 UTSW 4 134131430 missense possibly damaging 0.62
R2220:Cep85 UTSW 4 134153867 missense probably damaging 1.00
R4321:Cep85 UTSW 4 134132285 missense probably damaging 1.00
R4888:Cep85 UTSW 4 134164751 intron probably benign
R5044:Cep85 UTSW 4 134156179 missense probably damaging 0.97
R5075:Cep85 UTSW 4 134132367 missense probably damaging 1.00
R5627:Cep85 UTSW 4 134134097 missense probably damaging 1.00
R6841:Cep85 UTSW 4 134155856 missense probably benign
R6842:Cep85 UTSW 4 134155856 missense probably benign
R6843:Cep85 UTSW 4 134155856 missense probably benign
R6981:Cep85 UTSW 4 134152261 missense probably damaging 1.00
R7252:Cep85 UTSW 4 134148031 missense probably benign 0.12
R7869:Cep85 UTSW 4 134132298 missense probably damaging 0.99
R7952:Cep85 UTSW 4 134132298 missense probably damaging 0.99
V8831:Cep85 UTSW 4 134156069 missense possibly damaging 0.94
Posted On2015-04-16