|Institutional Source||Beutler Lab|
|Gene Name||PR domain containing 10|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R3745 (G1)|
|Chromosomal Location||31280538-31381723 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31340407 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Threonine at position 357 (I357T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074104 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074510] [ENSMUST00000215499] [ENSMUST00000215847]|
|AlphaFold||no structure available at present|
AA Change: I357T
PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: I357T
AA Change: I388T
PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: I406T
PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|Meta Mutation Damage Score||0.1349|
|Coding Region Coverage||
|Validation Efficiency||98% (44/45)|
|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'- TGTGCTATAGAGAAACGCTGGG -3'
(R):5'- TTGAAAACGTGCCTTTGTCTTGTTC -3'
(F):5'- CGCTGGGTAGTATAGAAAGCAC -3'
(R):5'- CCAATCCCGCTTTAGTTACCAGG -3'