Incidental Mutation 'R0689:Cep85l'
ID 218720
Institutional Source Beutler Lab
Gene Symbol Cep85l
Ensembl Gene ENSMUSG00000038594
Gene Name centrosomal protein 85-like
Synonyms Gm9766
MMRRC Submission 038874-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R0689 (G1)
Quality Score 55
Status Validated
Chromosome 10
Chromosomal Location 53149539-53256043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53224943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 215 (D215E)
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 damaging
Transcript: ENSMUST00000095691
AA Change: D113E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: D113E

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 damaging
Transcript: ENSMUST00000220443
AA Change: D215E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000220376
AA Change: D113E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 0.0659 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.4%
  • 20x: 91.1%
Validation Efficiency 99% (80/81)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 C A 7: 28,596,474 (GRCm39) G674W probably damaging Het
Adcy9 A G 16: 4,130,668 (GRCm39) probably benign Het
Adgrv1 C T 13: 81,623,224 (GRCm39) V3800I possibly damaging Het
Agl A G 3: 116,587,277 (GRCm39) Y93H probably damaging Het
Aldh1a3 T A 7: 66,051,753 (GRCm39) D400V probably benign Het
Bpifc A G 10: 85,796,411 (GRCm39) probably benign Het
Cachd1 G T 4: 100,832,073 (GRCm39) R745L probably damaging Het
Cadm3 T A 1: 173,172,019 (GRCm39) T185S possibly damaging Het
Ces1g A G 8: 94,055,035 (GRCm39) S221P probably damaging Het
Cfap206 C T 4: 34,722,668 (GRCm39) V138M probably benign Het
Csmd3 A T 15: 47,619,421 (GRCm39) F1714I probably benign Het
Cyp4f18 A G 8: 72,749,812 (GRCm39) L279P probably benign Het
Dnah7a G A 1: 53,659,840 (GRCm39) Q723* probably null Het
Dnaja2 A G 8: 86,273,347 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,468,450 (GRCm39) V162A possibly damaging Het
Dok4 T C 8: 95,597,547 (GRCm39) T3A probably benign Het
Efcab7 T C 4: 99,761,981 (GRCm39) W424R probably damaging Het
Fah A T 7: 84,242,392 (GRCm39) probably null Het
Fam120a T C 13: 49,121,114 (GRCm39) D64G probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gas8 T G 8: 124,250,845 (GRCm39) L106R probably damaging Het
Gykl1 T G 18: 52,827,123 (GRCm39) N110K possibly damaging Het
Hsd3b3 G T 3: 98,649,295 (GRCm39) L343I possibly damaging Het
Itch T A 2: 155,024,098 (GRCm39) S234T possibly damaging Het
Itgbl1 A T 14: 124,065,259 (GRCm39) I61F possibly damaging Het
Klf6 T A 13: 5,915,115 (GRCm39) S185T probably damaging Het
Klk1b1 A C 7: 43,620,143 (GRCm39) K202T probably benign Het
Liph T C 16: 21,786,818 (GRCm39) Y268C probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myo9b G A 8: 71,783,400 (GRCm39) D574N probably damaging Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Nipbl A G 15: 8,322,562 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,194 (GRCm39) N355K probably benign Het
Or4k15c A T 14: 50,321,689 (GRCm39) F150I probably benign Het
Pcdhb21 A G 18: 37,648,370 (GRCm39) T500A probably benign Het
Pclo A G 5: 14,764,033 (GRCm39) I4169V unknown Het
Pde4d T C 13: 109,877,078 (GRCm39) S144P possibly damaging Het
Pgghg T C 7: 140,523,191 (GRCm39) Y157H probably benign Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Pla2g12a T C 3: 129,674,947 (GRCm39) probably null Het
Ppp1r14d T C 2: 119,060,093 (GRCm39) D63G probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sgip1 A T 4: 102,823,449 (GRCm39) D690V probably damaging Het
Skp1 T C 11: 52,134,592 (GRCm39) probably benign Het
Slc25a12 T C 2: 71,141,837 (GRCm39) Y272C possibly damaging Het
Slc37a2 A G 9: 37,146,846 (GRCm39) probably benign Het
Snx6 A T 12: 54,810,441 (GRCm39) S112T probably benign Het
Sox6 A G 7: 115,085,786 (GRCm39) V685A probably damaging Het
Taf2 A T 15: 54,926,461 (GRCm39) V163E possibly damaging Het
Tg A T 15: 66,711,253 (GRCm39) probably benign Het
Tmem30c A G 16: 57,090,536 (GRCm39) Y224H probably damaging Het
Tmem45b T C 9: 31,339,879 (GRCm39) N173D probably benign Het
Traf5 T C 1: 191,729,837 (GRCm39) T405A probably benign Het
Trerf1 C T 17: 47,630,300 (GRCm39) noncoding transcript Het
Triobp A T 15: 78,844,188 (GRCm39) K135* probably null Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Vmn1r63 T C 7: 5,806,609 (GRCm39) I8V probably benign Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Vmn2r98 T C 17: 19,300,782 (GRCm39) S595P possibly damaging Het
Zcchc2 C T 1: 105,958,234 (GRCm39) Q504* probably null Het
Zfp2 T C 11: 50,791,734 (GRCm39) D103G probably benign Het
Zfp59 A G 7: 27,553,142 (GRCm39) K198R probably benign Het
Zfp64 C A 2: 168,777,121 (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
R0559:Cep85l UTSW 10 53,224,597 (GRCm39) missense probably benign 0.00
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'- CGTAACTGCTCTGTCAGCCACATC -3'
(R):5'- TAGACATGAAGGACTTCAGGCCCC -3'

Sequencing Primer
(F):5'- CATCTGAGTCCTCACAGAAGGTTG -3'
(R):5'- TTCAGGCCCCTGAGGAAATG -3'
Posted On 2014-08-20