|Institutional Source||Beutler Lab|
|Gene Name||elongin A|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7124 (G1)|
|Chromosomal Location||136003368-136021763 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 136009141 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 565 (I565F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030427 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030427]|
|Predicted Effect||probably damaging
AA Change: I565F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I565F
|Coding Region Coverage||
|Validation Efficiency||97% (72/74)|
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'- TGCCCAGAGCTGTGATTTG -3'
(R):5'- ATTCTGGTTCCAAGTGTGCC -3'
(F):5'- AGAGCTGTGATTTGCCCTCTGAC -3'
(R):5'- GTGTGCCTATCTCCCCAAAATGATG -3'