|Institutional Source||Beutler Lab|
|Gene Name||centrosomal protein 85-like|
|Is this an essential gene?||Possibly non essential (E-score: 0.329)|
|Stock #||R2043 (G1)|
|Chromosomal Location||53273443-53379947 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 53358128 bp|
|Amino Acid Change||Asparagine to Lysine at position 51 (N51K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151909 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095691] [ENSMUST00000220443]|
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: N51K
PolyPhen 2 Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|Meta Mutation Damage Score||0.038|
|Coding Region Coverage||
|Validation Efficiency||96% (47/49)|
|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||
|Other mutations in Cep85l||
(F):5'- TTTTGAATGCAGGGGAAAATGAA -3'
(R):5'- GAGTCTGCATCCTCTTGTCAG -3'
(F):5'- TGCAGGGGAAAATGAAATATAATCAG -3'
(R):5'- CTCTTGTCAGCCCTGGGATATG -3'