Incidental Mutation 'R0969:Cep85l'
ID 83988
Institutional Source Beutler Lab
Gene Symbol Cep85l
Ensembl Gene ENSMUSG00000038594
Gene Name centrosomal protein 85-like
Synonyms Gm9766
MMRRC Submission 039098-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R0969 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 53149539-53256043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53157592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 602 (K602E)
Ref Sequence ENSEMBL: ENSMUSP00000152032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095691] [ENSMUST00000220376] [ENSMUST00000220443]
AlphaFold A0A1W2P884
Predicted Effect probably benign
Transcript: ENSMUST00000095691
AA Change: K602E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000093356
Gene: ENSMUSG00000038594
AA Change: K602E

DomainStartEndE-ValueType
coiled coil region 442 578 N/A INTRINSIC
coiled coil region 600 645 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219673
Predicted Effect probably benign
Transcript: ENSMUST00000220376
AA Change: K602E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000220443
AA Change: K704E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (38/39)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,277 (GRCm39) probably null Het
Afg1l T C 10: 42,194,617 (GRCm39) T392A probably damaging Het
Ccdc66 A G 14: 27,219,319 (GRCm39) S146P probably damaging Het
Ccl20 T A 1: 83,095,638 (GRCm39) probably benign Het
Cd2 T A 3: 101,183,371 (GRCm39) I313F probably benign Het
Cep350 A T 1: 155,816,572 (GRCm39) D374E possibly damaging Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dhx8 T C 11: 101,630,526 (GRCm39) probably benign Het
Epha3 A T 16: 63,386,999 (GRCm39) L878Q probably damaging Het
F2rl2 A T 13: 95,837,461 (GRCm39) T169S probably damaging Het
Gpx3 T C 11: 54,799,852 (GRCm39) probably benign Het
Ipo5 T A 14: 121,181,937 (GRCm39) V1010D possibly damaging Het
Nipbl A T 15: 8,321,712 (GRCm39) L2647Q probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or5d18 T C 2: 87,864,592 (GRCm39) D297G probably damaging Het
Pcnt T C 10: 76,263,785 (GRCm39) E393G probably damaging Het
Pibf1 C A 14: 99,433,822 (GRCm39) Q590K probably benign Het
Pkd1l1 T C 11: 8,886,898 (GRCm39) D367G probably damaging Het
Pnpla7 T C 2: 24,940,965 (GRCm39) Y1106H probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slco5a1 C T 1: 13,060,116 (GRCm39) A202T probably damaging Het
Slco6c1 A C 1: 97,047,685 (GRCm39) I206R probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srek1 G A 13: 103,889,011 (GRCm39) probably benign Het
St8sia6 T A 2: 13,701,680 (GRCm39) R112S probably benign Het
Suclg1 T A 6: 73,248,099 (GRCm39) H273Q probably benign Het
Taf2 T A 15: 54,894,553 (GRCm39) probably null Het
Tctn1 A G 5: 122,379,840 (GRCm39) V566A probably benign Het
Trpm4 A G 7: 44,977,331 (GRCm39) probably benign Het
Trpv3 C T 11: 73,169,764 (GRCm39) Q112* probably null Het
Ttll8 T C 15: 88,818,138 (GRCm39) Y179C probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Upk1b A G 16: 38,607,661 (GRCm39) probably benign Het
Zfp961 T G 8: 72,722,139 (GRCm39) H217Q probably damaging 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
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'- CAGCCACTTACATCGGATTCCCAG -3'
(R):5'- TGATGGCACAGAGGAGTCAGCTTG -3'

Sequencing Primer
(F):5'- TCGGATTCCCAGTAACAATGAG -3'
(R):5'- CCCTACTGAATGTGTGCAGC -3'
Posted On 2013-11-08