Incidental Mutation 'IGL01113:Cep85'
ID 50920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep85
Ensembl Gene ENSMUSG00000037443
Gene Name centrosomal protein 85
Synonyms 2410030J07Rik, Ccdc21
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL01113
Quality Score
Status
Chromosome 4
Chromosomal Location 134129858-134187112 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134148761 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 445 (V445I)
Ref Sequence ENSEMBL: ENSMUSP00000113351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040271] [ENSMUST00000121566]
AlphaFold Q8BMK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040271
AA Change: V447I

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: V447I

DomainStartEndE-ValueType
coiled coil region 333 656 N/A INTRINSIC
coiled coil region 725 749 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121566
AA Change: V445I

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: V445I

DomainStartEndE-ValueType
coiled coil region 331 654 N/A INTRINSIC
coiled coil region 723 747 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141992
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544L04Rik A G 7: 135,397,142 noncoding transcript Het
Adgrv1 A T 13: 81,489,028 F3431L probably benign Het
Adk A G 14: 21,092,393 N21S probably damaging Het
Cacna2d3 A G 14: 29,300,731 probably benign Het
Camk2d C A 3: 126,780,412 A156E probably damaging Het
Ccdc171 G T 4: 83,661,810 W598L probably damaging Het
Cftr A G 6: 18,270,253 Y814C probably damaging Het
Dctn1 T C 6: 83,179,897 S9P probably benign Het
Dmxl1 A G 18: 49,912,751 K2409R probably benign Het
Dnaaf1 T A 8: 119,582,578 I135N probably damaging Het
Eif3d G A 15: 77,963,315 T241M probably damaging Het
Etv1 T C 12: 38,781,792 probably benign Het
Gdpd3 C A 7: 126,767,825 S182R probably benign Het
Gm12888 C A 4: 121,318,324 C87F probably damaging Het
Gm5346 T C 8: 43,626,152 H345R probably damaging Het
Gml C A 15: 74,813,727 M136I probably benign Het
Habp2 A G 19: 56,310,116 T137A probably benign Het
Igkv6-25 C T 6: 70,215,788 P60S possibly damaging Het
Mak A T 13: 41,042,143 W396R probably damaging Het
Mast4 C A 13: 102,774,236 C441F probably damaging Het
Medag T C 5: 149,429,907 I189T probably benign Het
Myh1 A G 11: 67,202,180 T71A probably benign Het
Nin G T 12: 70,031,779 L1678M probably damaging Het
Nol6 T C 4: 41,115,749 D1081G probably damaging Het
Olfr308 A T 7: 86,321,153 D266E probably benign Het
Olfr350 A T 2: 36,850,619 D191V probably damaging Het
Ppp1r10 T A 17: 35,929,559 N580K probably damaging Het
Rpgrip1l T C 8: 91,260,739 probably benign Het
Serpinb3a G A 1: 107,051,059 Q57* probably null Het
Thumpd3 T C 6: 113,060,060 S307P probably benign Het
Upf1 A C 8: 70,338,284 D577E probably benign Het
Vmn2r99 T C 17: 19,394,256 V746A probably benign Het
Wscd2 T C 5: 113,570,739 V268A probably damaging Het
Other mutations in Cep85
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7869:Cep85 UTSW 4 134132298 missense probably damaging 0.99
R8057:Cep85 UTSW 4 134153614 unclassified probably benign
R8194:Cep85 UTSW 4 134134089 missense probably null 0.00
R8733:Cep85 UTSW 4 134148161 missense possibly damaging 0.87
R8928:Cep85 UTSW 4 134132404 missense probably benign 0.00
R9430:Cep85 UTSW 4 134167354 missense probably damaging 1.00
R9550:Cep85 UTSW 4 134131287 missense probably damaging 1.00
V8831:Cep85 UTSW 4 134156069 missense possibly damaging 0.94
Posted On 2013-06-21