|Institutional Source||Beutler Lab|
|Gene Name||elongin A|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6334 (G1)|
|Chromosomal Location||136003368-136021763 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 136009822 bp|
|Amino Acid Change||Proline to Serine at position 488 (P488S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030427 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030427]|
|Predicted Effect||probably damaging
AA Change: P488S
PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: P488S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2002|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded, exhibit a wide range of developmental anomalies and die between E10.5 and E12.5, most likely due to massive apoptosis while mutant MEFs show increased apoptosis and senescence-like growth defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eloa||
(F):5'- AAAGGTCTACACTACATGGTGAAG -3'
(R):5'- CTCACTGAGAGGGTATGAGAGC -3'
(F):5'- TGAGTTTAAAGCCAGCCTCG -3'
(R):5'- GGGTATGAGAGCCTACATTTACTTC -3'