Incidental Mutation 'R1472:Cep85'
ID 164981
Institutional Source Beutler Lab
Gene Symbol Cep85
Ensembl Gene ENSMUSG00000037443
Gene Name centrosomal protein 85
Synonyms 2410030J07Rik, Ccdc21
MMRRC Submission 039525-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R1472 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 134129858-134187112 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134167400 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 32 (W32R)
Ref Sequence ENSEMBL: ENSMUSP00000125599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040271] [ENSMUST00000121566] [ENSMUST00000137388]
AlphaFold Q8BMK0
Predicted Effect probably damaging
Transcript: ENSMUST00000040271
AA Change: W32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443
AA Change: W32R

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: W32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443
AA Change: W32R

DomainStartEndE-ValueType
coiled coil region 331 654 N/A INTRINSIC
coiled coil region 723 747 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137388
AA Change: W32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184419
Meta Mutation Damage Score 0.8364 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 138,067,552 (GRCm38) T834M possibly damaging Het
Ak1 T C 2: 32,630,301 (GRCm38) L32P probably damaging Het
Ankrd24 A G 10: 81,634,920 (GRCm38) D61G probably damaging Het
Atp13a2 T C 4: 140,993,802 (GRCm38) S99P probably damaging Het
Atp8a2 T C 14: 59,860,270 (GRCm38) K770E probably benign Het
Bmp10 A G 6: 87,433,797 (GRCm38) I191V probably benign Het
C2cd6 A T 1: 59,067,785 (GRCm38) S294T possibly damaging Het
C4b T A 17: 34,743,769 (GRCm38) K20* probably null Het
Caps2 C T 10: 112,179,472 (GRCm38) T139I probably benign Het
Cdc25a T C 9: 109,876,089 (GRCm38) S34P probably benign Het
Cenpv T C 11: 62,536,295 (GRCm38) I146V probably benign Het
Cep57 A T 9: 13,821,554 (GRCm38) F32I probably benign Het
Cntrl T C 2: 35,169,317 (GRCm38) probably null Het
Cpd A G 11: 76,784,398 (GRCm38) V1299A probably damaging Het
Cpne6 T C 14: 55,514,635 (GRCm38) V283A probably benign Het
Crot A G 5: 8,966,941 (GRCm38) C584R probably damaging Het
Ctsc A C 7: 88,281,462 (GRCm38) H83P possibly damaging Het
Dido1 T C 2: 180,660,720 (GRCm38) N1797S probably benign Het
Dlgap4 C T 2: 156,760,901 (GRCm38) Q148* probably null Het
Dnah3 T C 7: 120,070,958 (GRCm38) D688G probably benign Het
Dnmt1 T C 9: 20,932,176 (GRCm38) E138G probably benign Het
Edc4 T A 8: 105,892,828 (GRCm38) M1396K probably damaging Het
Haao T A 17: 83,838,838 (GRCm38) Q69L probably benign Het
Hsd3b6 A T 3: 98,807,939 (GRCm38) probably null Het
Itpr3 T A 17: 27,114,225 (GRCm38) I1937N probably benign Het
Kcnk15 C A 2: 163,858,207 (GRCm38) T103K probably damaging Het
Kifc3 A G 8: 95,137,913 (GRCm38) probably null Het
Lama3 T A 18: 12,482,045 (GRCm38) F1342Y probably benign Het
Lilra6 A T 7: 3,912,719 (GRCm38) M98K probably damaging Het
Map3k21 T C 8: 125,941,678 (GRCm38) S668P probably benign Het
Mcpt8 T C 14: 56,082,334 (GRCm38) T220A probably benign Het
Mettl13 C T 1: 162,537,167 (GRCm38) V548I possibly damaging Het
Mfsd4b4 A G 10: 39,891,864 (GRCm38) M411T probably benign Het
Mrfap1 A G 5: 36,796,473 (GRCm38) S41P possibly damaging Het
Mroh2b A G 15: 4,948,655 (GRCm38) I1302V probably benign Het
Mrpl45 C T 11: 97,323,855 (GRCm38) R123* probably null Het
Mstn T A 1: 53,061,998 (GRCm38) I78K probably damaging Het
Mtdh T C 15: 34,114,045 (GRCm38) S168P possibly damaging Het
Muc15 G T 2: 110,731,560 (GRCm38) V114F probably damaging Het
Muc6 T C 7: 141,651,879 (GRCm38) E112G probably benign Het
Myocd G T 11: 65,187,504 (GRCm38) H360Q probably benign Het
Naip2 C T 13: 100,161,860 (GRCm38) G556D probably benign Het
Nav3 T C 10: 109,727,941 (GRCm38) E1627G probably damaging Het
Nlrp14 T C 7: 107,182,703 (GRCm38) L369P probably benign Het
Nlrp6 A G 7: 140,923,495 (GRCm38) T505A probably damaging Het
Npbwr1 T C 1: 5,916,681 (GRCm38) S205G probably damaging Het
Nsmaf G A 4: 6,423,448 (GRCm38) R307* probably null Het
Olfr1505 T C 19: 13,919,844 (GRCm38) S275P probably damaging Het
Olfr187 A T 16: 59,036,557 (GRCm38) L60Q probably damaging Het
Parp9 T G 16: 35,953,680 (GRCm38) S341A possibly damaging Het
Pdss2 A G 10: 43,413,537 (GRCm38) N346S probably benign Het
Pikfyve T A 1: 65,224,201 (GRCm38) F503Y probably damaging Het
Polr1e G T 4: 45,028,026 (GRCm38) A290S probably damaging Het
Ppp1r21 A T 17: 88,558,605 (GRCm38) H305L probably damaging Het
Prss47 A G 13: 65,049,289 (GRCm38) L117P probably damaging Het
Psmb2 A G 4: 126,687,032 (GRCm38) Y73C probably damaging Het
Rcn2 C T 9: 56,056,253 (GRCm38) P222L probably benign Het
Rnf144b T C 13: 47,242,885 (GRCm38) Y233H probably damaging Het
Rnf17 T C 14: 56,427,979 (GRCm38) L196P probably damaging Het
Sik2 A G 9: 51,008,811 (GRCm38) I22T probably damaging Het
Sis A G 3: 72,889,027 (GRCm38) V1807A probably benign Het
Slc1a2 T A 2: 102,737,909 (GRCm38) I88N probably damaging Het
Slc22a22 A G 15: 57,247,520 (GRCm38) F437S probably benign Het
Slc39a13 A T 2: 91,068,705 (GRCm38) C20* probably null Het
Sos2 C T 12: 69,585,316 (GRCm38) probably null Het
Sst A G 16: 23,890,698 (GRCm38) V16A probably benign Het
Stab1 C T 14: 31,141,586 (GRCm38) G2073D probably benign Het
Stxbp1 A T 2: 32,794,636 (GRCm38) S594T probably benign Het
Sugct A T 13: 17,452,546 (GRCm38) C241S probably benign Het
Svil T A 18: 5,048,950 (GRCm38) C76S probably benign Het
Tcaf1 A G 6: 42,686,448 (GRCm38) V166A possibly damaging Het
Tmem131 A T 1: 36,816,241 (GRCm38) N801K possibly damaging Het
Tox3 T C 8: 90,254,345 (GRCm38) N277S probably damaging Het
Tril G T 6: 53,818,027 (GRCm38) R737S probably damaging Het
Trpm2 C A 10: 77,966,007 (GRCm38) V75L probably damaging Het
Tshz1 A C 18: 84,013,805 (GRCm38) L826R possibly damaging Het
Ttn C T 2: 76,766,852 (GRCm38) V19906I probably damaging Het
Wnt5a C T 14: 28,518,504 (GRCm38) R184* probably null Het
Wnt5b G A 6: 119,433,481 (GRCm38) R333C probably damaging Het
Zbtb6 T C 2: 37,429,344 (GRCm38) T191A probably benign Het
Zc3h4 A G 7: 16,434,770 (GRCm38) N935D unknown Het
Zc3h7a C T 16: 11,161,026 (GRCm38) R95H probably damaging Het
Zfp110 T C 7: 12,848,541 (GRCm38) V372A possibly damaging Het
Zmym2 C T 14: 56,911,183 (GRCm38) S318L probably benign Het
Other mutations in Cep85
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01113:Cep85 APN 4 134,148,761 (GRCm38) missense possibly damaging 0.63
IGL01397:Cep85 APN 4 134,156,206 (GRCm38) missense probably damaging 1.00
IGL01472:Cep85 APN 4 134,134,166 (GRCm38) missense possibly damaging 0.55
IGL01522:Cep85 APN 4 134,152,256 (GRCm38) missense probably damaging 1.00
IGL01522:Cep85 APN 4 134,152,255 (GRCm38) missense probably damaging 1.00
IGL02004:Cep85 APN 4 134,167,387 (GRCm38) missense probably damaging 1.00
IGL02043:Cep85 APN 4 134,155,727 (GRCm38) missense probably benign 0.02
IGL02187:Cep85 APN 4 134,131,305 (GRCm38) missense possibly damaging 0.86
IGL02317:Cep85 APN 4 134,155,811 (GRCm38) missense probably damaging 1.00
IGL02543:Cep85 APN 4 134,156,323 (GRCm38) missense possibly damaging 0.52
1mM(1):Cep85 UTSW 4 134,156,264 (GRCm38) missense possibly damaging 0.88
PIT4468001:Cep85 UTSW 4 134,148,697 (GRCm38) missense probably damaging 1.00
R0060:Cep85 UTSW 4 134,167,300 (GRCm38) missense probably damaging 1.00
R0068:Cep85 UTSW 4 134,154,295 (GRCm38) missense probably benign 0.00
R0346:Cep85 UTSW 4 134,132,422 (GRCm38) missense probably damaging 1.00
R0462:Cep85 UTSW 4 134,131,421 (GRCm38) missense possibly damaging 0.88
R1295:Cep85 UTSW 4 134,167,400 (GRCm38) missense probably damaging 1.00
R1296:Cep85 UTSW 4 134,167,400 (GRCm38) missense probably damaging 1.00
R1577:Cep85 UTSW 4 134,152,288 (GRCm38) missense probably damaging 1.00
R1681:Cep85 UTSW 4 134,148,728 (GRCm38) nonsense probably null
R1687:Cep85 UTSW 4 134,148,013 (GRCm38) missense probably benign 0.00
R2031:Cep85 UTSW 4 134,132,450 (GRCm38) missense probably benign 0.00
R2216:Cep85 UTSW 4 134,131,430 (GRCm38) missense possibly damaging 0.62
R2220:Cep85 UTSW 4 134,153,867 (GRCm38) missense probably damaging 1.00
R4321:Cep85 UTSW 4 134,132,285 (GRCm38) missense probably damaging 1.00
R4888:Cep85 UTSW 4 134,164,751 (GRCm38) intron probably benign
R5044:Cep85 UTSW 4 134,156,179 (GRCm38) missense probably damaging 0.97
R5075:Cep85 UTSW 4 134,132,367 (GRCm38) missense probably damaging 1.00
R5627:Cep85 UTSW 4 134,134,097 (GRCm38) missense probably damaging 1.00
R6841:Cep85 UTSW 4 134,155,856 (GRCm38) missense probably benign
R6842:Cep85 UTSW 4 134,155,856 (GRCm38) missense probably benign
R6843:Cep85 UTSW 4 134,155,856 (GRCm38) missense probably benign
R6981:Cep85 UTSW 4 134,152,261 (GRCm38) missense probably damaging 1.00
R7252:Cep85 UTSW 4 134,148,031 (GRCm38) missense probably benign 0.12
R7869:Cep85 UTSW 4 134,132,298 (GRCm38) missense probably damaging 0.99
R8057:Cep85 UTSW 4 134,153,614 (GRCm38) unclassified probably benign
R8194:Cep85 UTSW 4 134,134,089 (GRCm38) missense probably null 0.00
R8733:Cep85 UTSW 4 134,148,161 (GRCm38) missense possibly damaging 0.87
R8928:Cep85 UTSW 4 134,132,404 (GRCm38) missense probably benign 0.00
R9430:Cep85 UTSW 4 134,167,354 (GRCm38) missense probably damaging 1.00
R9550:Cep85 UTSW 4 134,131,287 (GRCm38) missense probably damaging 1.00
V8831:Cep85 UTSW 4 134,156,069 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CAGATTCCATGACTGAATAGCCTGTCC -3'
(R):5'- GAAAGATGTGCCTGCTGCTGTTTTAC -3'

Sequencing Primer
(F):5'- GACTGAATAGCCTGTCCTTACAATC -3'
(R):5'- CAGTCAACCTGCTTGGAATG -3'
Posted On 2014-03-28