|Institutional Source||Beutler Lab|
|Gene Name||PR domain containing 10|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8168 (G1)|
|Chromosomal Location||31280538-31381723 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 31346967 bp|
|Amino Acid Change||Alanine to Threonine at position 514 (A514T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074104 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074510]|
|Predicted Effect||probably benign
AA Change: A514T
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: A514T
|Meta Mutation Damage Score||0.0846|
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prdm10||
(F):5'- TTCTGAACTGCAGGCGTCAC -3'
(R):5'- GACACTCACCTGGATAAAATCTGG -3'
(F):5'- GTGTCTTTCAGAATGCAGCTC -3'
(R):5'- GGAACCGTTTCTTACAAGTTGGGC -3'