Incidental Mutation 'R0559:Cep85l'
ID 45797
Institutional Source Beutler Lab
Gene Symbol Cep85l
Ensembl Gene ENSMUSG00000038594
Gene Name centrosomal protein 85-like
Synonyms Gm9766
MMRRC Submission 038751-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R0559 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 53149539-53256043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53224597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 331 (F331L)
Ref Sequence ENSEMBL: ENSMUSP00000151909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046221] [ENSMUST00000095691] [ENSMUST00000163319] [ENSMUST00000218468] [ENSMUST00000220443] [ENSMUST00000220376] [ENSMUST00000220197] [ENSMUST00000219921] [ENSMUST00000219491]
AlphaFold A0A1W2P884
Predicted Effect probably benign
Transcript: ENSMUST00000046221
SMART Domains Protein: ENSMUSP00000045709
Gene: ENSMUSG00000038583

DomainStartEndE-ValueType
Pfam:Phospholamban 1 52 2.7e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095691
AA Change: F229L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: F229L

DomainStartEndE-ValueType
coiled coil region 442 578 N/A INTRINSIC
coiled coil region 600 645 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163319
SMART Domains Protein: ENSMUSP00000132743
Gene: ENSMUSG00000038583

DomainStartEndE-ValueType
Pfam:Phospholamban 1 52 2.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218351
Predicted Effect probably benign
Transcript: ENSMUST00000218468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218596
Predicted Effect probably benign
Transcript: ENSMUST00000220443
AA Change: F331L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000220376
AA Change: F229L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000220197
Predicted Effect probably benign
Transcript: ENSMUST00000219921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220401
Predicted Effect probably benign
Transcript: ENSMUST00000219491
Meta Mutation Damage Score 0.0601 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (34/35)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,748,535 (GRCm39) I289F probably benign Het
Adam15 G A 3: 89,251,085 (GRCm39) A540V probably damaging Het
Adat1 T C 8: 112,709,062 (GRCm39) T254A probably damaging Het
Agtpbp1 A G 13: 59,644,814 (GRCm39) V684A probably benign Het
Ahi1 A G 10: 20,876,618 (GRCm39) probably benign Het
Arl5b T C 2: 15,077,998 (GRCm39) Y108H probably damaging Het
Ctnna2 T C 6: 76,892,833 (GRCm39) K785E probably damaging Het
Dgkd T A 1: 87,842,826 (GRCm39) I118N probably damaging Het
Dicer1 G A 12: 104,672,560 (GRCm39) R896W probably damaging Het
Eif1ad19 T A 12: 87,740,223 (GRCm39) H112L probably benign Het
Fbxl19 G T 7: 127,349,390 (GRCm39) W160L possibly damaging Het
H1f8 T C 6: 115,924,760 (GRCm39) Y89H probably damaging Het
Ipo5 T C 14: 121,176,053 (GRCm39) V626A probably damaging Het
Isx A G 8: 75,600,369 (GRCm39) K34R probably benign Het
Myh6 T C 14: 55,196,011 (GRCm39) E596G probably benign Het
Olfml2a T C 2: 38,849,832 (GRCm39) I516T probably damaging Het
Or14j5 C T 17: 38,161,746 (GRCm39) R88* probably null Het
Or5w12 T G 2: 87,502,244 (GRCm39) T156P possibly damaging Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Parp9 T C 16: 35,768,362 (GRCm39) F181L probably benign Het
Pkdcc G A 17: 83,523,454 (GRCm39) G187D probably benign Het
Plekhh3 C T 11: 101,055,592 (GRCm39) E483K possibly damaging Het
Ptx4 C T 17: 25,342,082 (GRCm39) Q186* probably null Het
Qsox2 T A 2: 26,104,169 (GRCm39) H287L probably benign Het
Rev3l G A 10: 39,700,483 (GRCm39) G1660D probably damaging Het
Scamp1 G T 13: 94,344,690 (GRCm39) A217E possibly damaging Het
Slc5a9 T C 4: 111,742,779 (GRCm39) I438V probably benign Het
Sort1 T C 3: 108,263,895 (GRCm39) F818S probably damaging Het
Srl G A 16: 4,314,842 (GRCm39) P267S probably benign Het
Tbc1d1 T C 5: 64,331,136 (GRCm39) I105T probably damaging Het
Tifab A G 13: 56,324,060 (GRCm39) Y128H probably benign Het
Trp53bp1 A T 2: 121,058,282 (GRCm39) S907T probably damaging Het
Ubr1 G A 2: 120,778,364 (GRCm39) R225* probably null Het
Upk3bl A G 5: 136,086,330 (GRCm39) T89A probably benign Het
Vars1 T A 17: 35,233,034 (GRCm39) C916* probably null Het
Ywhaz T C 15: 36,791,208 (GRCm39) E5G possibly damaging Het
Zfp91 T C 19: 12,747,419 (GRCm39) D568G probably damaging Het
Zgpat T C 2: 181,021,985 (GRCm39) 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
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
R7256:Cep85l UTSW 10 53,172,351 (GRCm39) missense probably damaging 1.00
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'- TCAGAACAAAGTCCACGGCCTG -3'
(R):5'- TACCTGAGAGCAAGCCCATTGTGAC -3'

Sequencing Primer
(F):5'- ATGATACCGTGACAGCTTCTG -3'
(R):5'- AAGCCCATTGTGACAGGCTC -3'
Posted On 2013-06-11