Incidental Mutation 'R7256:Cep85l'
ID 564281
Institutional Source Beutler Lab
Gene Symbol Cep85l
Ensembl Gene ENSMUSG00000038594
Gene Name centrosomal protein 85-like
Synonyms Gm9766
MMRRC Submission 045317-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R7256 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 53149539-53256043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 53172351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 569 (C569W)
Ref Sequence ENSEMBL: ENSMUSP00000151909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095691] [ENSMUST00000220376] [ENSMUST00000220443]
AlphaFold A0A1W2P884
Predicted Effect
SMART Domains Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: C467W

DomainStartEndE-ValueType
coiled coil region 442 578 N/A INTRINSIC
coiled coil region 600 645 N/A INTRINSIC
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000220443
AA Change: C569W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,659,923 (GRCm39) Y790H probably damaging Het
Bend3 A C 10: 43,369,667 (GRCm39) S7R probably benign Het
Ccdc106 A G 7: 5,063,325 (GRCm39) T277A probably damaging Het
Ccdc162 G A 10: 41,431,997 (GRCm39) A1832V probably damaging Het
Ccser1 A G 6: 61,288,851 (GRCm39) E338G probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cecr2 T C 6: 120,739,490 (GRCm39) S1406P probably benign Het
Cep290 A G 10: 100,382,360 (GRCm39) T208A probably damaging Het
Ces5a G A 8: 94,226,154 (GRCm39) T527I probably benign Het
Clca3a2 T A 3: 144,796,608 (GRCm39) I200F probably damaging Het
Cmas G A 6: 142,716,312 (GRCm39) D251N probably damaging Het
Ctcfl G T 2: 172,960,268 (GRCm39) A105E probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dctn6 A T 8: 34,557,962 (GRCm39) I170N probably damaging Het
Dnah2 T C 11: 69,321,920 (GRCm39) Y3800C probably damaging Het
Dsg2 G A 18: 20,724,988 (GRCm39) V465I possibly damaging Het
Dzip1 T C 14: 119,123,058 (GRCm39) T646A probably benign Het
Etv4 T A 11: 101,675,151 (GRCm39) probably null Het
Exoc3l2 T C 7: 19,218,628 (GRCm39) V549A unknown Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
Fry T G 5: 150,390,251 (GRCm39) I179S Het
Galntl5 A G 5: 25,400,298 (GRCm39) H109R probably benign Het
Garem1 C A 18: 21,281,811 (GRCm39) G182W probably damaging Het
Gm5916 A T 9: 36,032,285 (GRCm39) Y50N possibly damaging Het
Gtf2h2 A T 13: 100,615,709 (GRCm39) F271I probably benign Het
Hivep2 G T 10: 14,004,845 (GRCm39) S481I probably benign Het
Homez T A 14: 55,094,877 (GRCm39) Q277L probably damaging Het
Hoxb4 C A 11: 96,210,722 (GRCm39) probably null Het
Igll1 A G 16: 16,678,957 (GRCm39) S118P probably damaging Het
Ikzf2 A C 1: 69,617,212 (GRCm39) probably null Het
Kif5b A G 18: 6,225,340 (GRCm39) V230A probably damaging Het
Ldlr T A 9: 21,657,040 (GRCm39) V719E probably benign Het
Lsm7 G A 10: 80,689,565 (GRCm39) R66W possibly damaging Het
Map3k13 T A 16: 21,710,988 (GRCm39) D90E probably benign Het
Mmrn1 A G 6: 60,953,098 (GRCm39) K460E probably damaging Het
Myh10 A C 11: 68,681,515 (GRCm39) N1061H probably damaging Het
Nepn A G 10: 52,277,089 (GRCm39) Q275R probably benign Het
Noc3l A T 19: 38,800,800 (GRCm39) D227E probably benign Het
Nploc4 G T 11: 120,319,376 (GRCm39) S61R probably benign Het
Nr4a2 T C 2: 57,002,381 (GRCm39) Y24C probably damaging Het
Nup160 T A 2: 90,553,699 (GRCm39) I1143N probably damaging Het
Or14a256 G T 7: 86,264,873 (GRCm39) H327N probably benign Het
Or4a15 A T 2: 89,192,838 (GRCm39) Y312N probably benign Het
Or8c17 T A 9: 38,180,004 (GRCm39) M57K probably damaging Het
Or8h7 A G 2: 86,720,956 (GRCm39) S188P probably damaging Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pgap1 A T 1: 54,532,366 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,633 (GRCm39) H229R probably damaging Het
Plcl1 A G 1: 55,737,377 (GRCm39) Q906R probably benign Het
Ppfia3 T C 7: 44,991,167 (GRCm39) N1018S probably benign Het
Pramel24 T A 4: 143,452,849 (GRCm39) D93E probably benign Het
Prkd1 A G 12: 50,435,125 (GRCm39) V534A possibly damaging Het
Pygm A T 19: 6,435,926 (GRCm39) I126F probably benign Het
Rag1 T C 2: 101,472,415 (GRCm39) Y909C probably damaging Het
Rasgrf2 G A 13: 92,032,637 (GRCm39) Q560* probably null Het
Rbp3 A T 14: 33,684,540 (GRCm39) I1190F possibly damaging Het
Reln T C 5: 22,183,921 (GRCm39) K1693E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsph3a A G 17: 8,165,002 (GRCm39) T121A probably benign Het
Rufy3 A G 5: 88,762,806 (GRCm39) N112S possibly damaging Het
Ryr3 G A 2: 112,502,591 (GRCm39) Q3548* probably null Het
Sardh A T 2: 27,108,824 (GRCm39) V637D probably benign Het
Spata16 T C 3: 26,722,016 (GRCm39) V179A probably benign Het
Spopfm2 T C 3: 94,083,667 (GRCm39) E48G probably benign Het
Tbc1d30 G A 10: 121,124,870 (GRCm39) T319I probably damaging Het
Tlr2 T A 3: 83,744,913 (GRCm39) Q390L possibly damaging Het
Tmem53 C T 4: 117,109,237 (GRCm39) probably null Het
Vmn1r113 T A 7: 20,521,370 (GRCm39) I54N probably damaging Het
Vmn1r223 A C 13: 23,434,036 (GRCm39) Y210S probably damaging Het
Zbbx A T 3: 74,947,205 (GRCm39) H670Q probably benign Het
Other mutations in Cep85l
AlleleSourceChrCoordTypePredicted EffectPPH Score
debauchery UTSW 10 53,224,911 (GRCm39) missense possibly damaging 0.77
saturnalia UTSW 10 53,195,690 (GRCm39) splice site probably null
R0103:Cep85l UTSW 10 53,154,270 (GRCm39) missense possibly damaging 0.53
R0103:Cep85l UTSW 10 53,154,270 (GRCm39) missense possibly damaging 0.53
R0559:Cep85l UTSW 10 53,224,597 (GRCm39) missense probably benign 0.00
R0689:Cep85l UTSW 10 53,224,943 (GRCm39) missense probably damaging 1.00
R0750:Cep85l UTSW 10 53,157,642 (GRCm39) missense probably damaging 0.99
R0969:Cep85l UTSW 10 53,157,592 (GRCm39) missense probably benign 0.00
R1375:Cep85l UTSW 10 53,225,354 (GRCm39) missense probably damaging 0.99
R1542:Cep85l UTSW 10 53,177,680 (GRCm39) missense probably damaging 1.00
R1611:Cep85l UTSW 10 53,224,777 (GRCm39) missense probably benign
R1749:Cep85l UTSW 10 53,154,250 (GRCm39) missense probably damaging 1.00
R1826:Cep85l UTSW 10 53,224,908 (GRCm39) missense possibly damaging 0.89
R2007:Cep85l UTSW 10 53,154,171 (GRCm39) utr 3 prime probably benign
R2043:Cep85l UTSW 10 53,234,224 (GRCm39) missense possibly damaging 0.64
R2144:Cep85l UTSW 10 53,234,222 (GRCm39) missense probably benign 0.04
R2186:Cep85l UTSW 10 53,224,714 (GRCm39) missense probably damaging 0.97
R2201:Cep85l UTSW 10 53,224,827 (GRCm39) missense probably benign 0.01
R3767:Cep85l UTSW 10 53,167,906 (GRCm39) missense probably benign 0.09
R5249:Cep85l UTSW 10 53,195,690 (GRCm39) splice site probably null
R5764:Cep85l UTSW 10 53,225,090 (GRCm39) missense probably benign 0.00
R6207:Cep85l UTSW 10 53,157,651 (GRCm39) missense probably benign
R6333:Cep85l UTSW 10 53,225,197 (GRCm39) nonsense probably null
R6422:Cep85l UTSW 10 53,167,876 (GRCm39) missense possibly damaging 0.62
R6511:Cep85l UTSW 10 53,154,188 (GRCm39) missense probably benign 0.00
R6645:Cep85l UTSW 10 53,177,768 (GRCm39) missense probably benign 0.26
R6863:Cep85l UTSW 10 53,225,214 (GRCm39) missense probably damaging 1.00
R6904:Cep85l UTSW 10 53,225,194 (GRCm39) missense probably benign 0.00
R7000:Cep85l UTSW 10 53,174,295 (GRCm39) missense probably damaging 1.00
R7015:Cep85l UTSW 10 53,225,151 (GRCm39) missense possibly damaging 0.89
R7425:Cep85l UTSW 10 53,177,666 (GRCm39) missense probably damaging 1.00
R7583:Cep85l UTSW 10 53,157,450 (GRCm39) missense probably damaging 1.00
R7796:Cep85l UTSW 10 53,157,497 (GRCm39) missense probably damaging 0.96
R7960:Cep85l UTSW 10 53,172,403 (GRCm39) missense probably benign
R7969:Cep85l UTSW 10 53,174,280 (GRCm39) missense probably damaging 1.00
R8042:Cep85l UTSW 10 53,224,759 (GRCm39) missense probably damaging 1.00
R8103:Cep85l UTSW 10 53,175,420 (GRCm39) splice site probably null
R8251:Cep85l UTSW 10 53,157,450 (GRCm39) missense probably damaging 1.00
R8460:Cep85l UTSW 10 53,225,313 (GRCm39) missense probably benign 0.18
R8698:Cep85l UTSW 10 53,234,201 (GRCm39) missense probably damaging 0.98
R8814:Cep85l UTSW 10 53,225,065 (GRCm39) missense probably benign 0.00
R8888:Cep85l UTSW 10 53,224,911 (GRCm39) missense possibly damaging 0.77
R8895:Cep85l UTSW 10 53,224,911 (GRCm39) missense possibly damaging 0.77
R9090:Cep85l UTSW 10 53,157,670 (GRCm39) nonsense probably null
R9271:Cep85l UTSW 10 53,157,670 (GRCm39) nonsense probably null
R9293:Cep85l UTSW 10 53,174,282 (GRCm39) missense probably damaging 1.00
R9478:Cep85l UTSW 10 53,224,875 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CCAAATGAAGGCTGAACCAATG -3'
(R):5'- TCACATAAATCTGTTTAACCTGGAG -3'

Sequencing Primer
(F):5'- ATACTGTGGTAACAGCGG -3'
(R):5'- CTGCATGCAGCATACAT -3'
Posted On 2019-06-26