|Institutional Source||Beutler Lab|
|Gene Name||negative elongation factor complex member A, Whsc2|
|Synonyms||Whsc2, Nelf-A, Whsc2h|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8168 (G1)|
|Chromosomal Location||33897916-33936413 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 33921907 bp|
|Amino Acid Change||Asparagine to Lysine at position 107 (N107K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030993 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030993]|
|Predicted Effect||possibly damaging
AA Change: N107K
PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: N107K
|Meta Mutation Damage Score||0.1712|
|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.] This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nelfa||
(F):5'- TGTGTATAAGGAGCCATGGC -3'
(R):5'- GGAAGCATAGGCACAGTCTG -3'
(F):5'- TGTATAAGGAGCCATGGCATACTAC -3'
(R):5'- CAGGGGACATTTTAAGCTGTCAC -3'