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|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein 382|
|Is this an essential gene?||Probably non essential (E-score: 0.114)|
|Stock #||R8207 (G1)|
|Chromosomal Location||30121942-30134950 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 30134415 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 497 (D497G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096196 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098596] [ENSMUST00000153792]|
|Predicted Effect||possibly damaging
AA Change: D497G
PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: D497G
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfp382||
(F):5'- GTCCTACCTTATCGAGCACG -3'
(R):5'- GGGTAATGAGGTTCGATTTACAGC -3'
(F):5'- GAGAAGCCCTACATTTGCTGTCAG -3'
(R):5'- GCTAAAGAATTTTCCACACTCTTGAC -3'