|Institutional Source||Beutler Lab|
|Gene Name||PR domain containing 14|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0576 (G1)|
|Chromosomal Location||13113457-13127163 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 13125725 bp|
|Amino Acid Change||Serine to Arginine at position 37 (S37R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044245 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047577]|
|Predicted Effect||possibly damaging
AA Change: S37R
PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: S37R
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||92% (47/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PRDI-BF1 and RIZ homology domain containing (PRDM) family of transcriptional regulators. The encoded protein may possess histone methyltransferase activity and plays a critical role in cell pluripotency by suppressing the expression of differentiation marker genes. Expression of this gene may play a role in breast cancer. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased primordial germ cell numbers, absent germ cells, and sterility in both males and females. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prdm14||
(F):5'- TGTACCAGGGCAGATTGTAGAGCG -3'
(R):5'- TTGGCGGGATCGAATTGGGAAC -3'
(F):5'- CAGATTGTAGAGCGGCTCG -3'
(R):5'- CGAATTGGGAACTTTGTTCATTGAC -3'