Incidental Mutation 'IGL02187:Cep85'
ID283698
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: 0.950) question?
Stock #IGL02187
Quality Score
Status
Chromosome4
Chromosomal Location134129858-134187112 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134131305 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 752 (M752L)
Ref Sequence ENSEMBL: ENSMUSP00000113351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030651] [ENSMUST00000040271] [ENSMUST00000070246] [ENSMUST00000074690] [ENSMUST00000105879] [ENSMUST00000121566] [ENSMUST00000151113]
Predicted Effect probably benign
Transcript: ENSMUST00000030651
SMART Domains Protein: ENSMUSP00000030651
Gene: ENSMUSG00000028843

DomainStartEndE-ValueType
Pfam:SH3BGR 2 93 6.3e-40 PFAM
Pfam:Glutaredoxin 22 70 9.2e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000040271
AA Change: M754L

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: M754L

DomainStartEndE-ValueType
coiled coil region 333 656 N/A INTRINSIC
coiled coil region 725 749 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070246
SMART Domains Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126

DomainStartEndE-ValueType
Pfam:SEP 114 185 1.5e-20 PFAM
UBX 268 350 2.3e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074690
SMART Domains Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126

DomainStartEndE-ValueType
coiled coil region 69 147 N/A INTRINSIC
Pfam:SEP 232 303 7.9e-20 PFAM
UBX 386 468 2.3e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105879
Predicted Effect possibly damaging
Transcript: ENSMUST00000121566
AA Change: M752L

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: M752L

DomainStartEndE-ValueType
coiled coil region 331 654 N/A INTRINSIC
coiled coil region 723 747 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139616
Predicted Effect probably benign
Transcript: ENSMUST00000151113
SMART Domains Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126

DomainStartEndE-ValueType
Blast:SEP 15 64 2e-13 BLAST
SCOP:d1i42a_ 129 173 4e-5 SMART
Blast:UBX 135 174 1e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156323
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 113,713,194 E922D possibly damaging Het
Asxl3 T A 18: 22,524,978 M2015K probably damaging Het
C8a C A 4: 104,862,736 R15L probably damaging Het
Catsperg2 A G 7: 29,721,366 V47A probably benign Het
Ccdc84 C T 9: 44,410,787 probably benign Het
Cdhr2 C T 13: 54,733,710 T1081I possibly damaging Het
Cxcr3 T A X: 101,732,877 S60C probably damaging Het
Cyp24a1 T A 2: 170,494,093 N208I probably damaging Het
Cyp2c38 A G 19: 39,436,205 I223T probably benign Het
Dennd6a A G 14: 26,606,926 I35V probably benign Het
Emb T G 13: 117,268,971 probably benign Het
Fbxo3 T C 2: 104,027,950 Y30H probably damaging Het
Fnbp1l G A 3: 122,568,800 R120* probably null Het
Galnt2 T C 8: 124,305,506 probably benign Het
Gckr T C 5: 31,307,424 probably benign Het
Gpr101 A G X: 57,501,481 F103S probably damaging Het
Gprasp1 T A X: 135,799,163 V35E probably damaging Het
Ift80 C A 3: 68,985,456 W133L probably damaging Het
Impdh1 C A 6: 29,207,087 probably benign Het
Ino80 T C 2: 119,445,457 probably benign Het
Kansl1 A T 11: 104,378,831 probably null Het
Klhl20 C T 1: 161,109,710 V32I probably benign Het
Lrfn3 A G 7: 30,355,964 S519P probably damaging Het
Mrpl51 A G 6: 125,193,331 N100S probably benign Het
Mybpc3 T C 2: 91,135,452 I1203T probably benign Het
Nbr1 A G 11: 101,569,359 I394V possibly damaging Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Olfr854 T A 9: 19,567,097 T96S probably benign Het
Pan3 T C 5: 147,526,588 I440T probably benign Het
Patz1 T C 11: 3,291,134 L174P probably damaging Het
Paxx A G 2: 25,460,656 L62P probably damaging Het
Plekhh1 T C 12: 79,072,818 S972P probably damaging Het
Ppp1r13b G T 12: 111,835,038 T404K probably damaging Het
Prkaa2 T C 4: 105,047,166 N238S probably benign Het
Prpf6 T C 2: 181,616,016 Y94H probably damaging Het
Rtn4 T C 11: 29,708,291 I815T possibly damaging Het
Slc44a5 A G 3: 154,262,917 T582A probably benign Het
Slitrk3 A G 3: 73,050,272 L389S probably damaging Het
Srp54b T A 12: 55,252,775 M297K probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zmym4 T A 4: 126,870,273 I1325L probably damaging Het
Zswim2 C A 2: 83,923,638 R226L probably 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
IGL02317:Cep85 APN 4 134155811 missense probably damaging 1.00
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
V8831:Cep85 UTSW 4 134156069 missense possibly damaging 0.94
Posted On2015-04-16