|Institutional Source||Beutler Lab|
|Gene Name||AF4/FMR2 family, member 4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8284 (G1)|
|Chromosomal Location||53350833-53421830 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 53404552 bp (GRCm38)|
|Amino Acid Change||Lysine to Glutamic Acid at position 860 (K860E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051479 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060945]|
AA Change: K860E
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: K860E
|Coding Region Coverage||
|Validation Efficiency||100% (54/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice display embryonic and neonatal lethality with incomplete penetrance, abnormal respiration, and shrunken alveoli. Surviving males are infertile with azoospermia and arrest of spermatogenesis but, do not develop hematological abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Aff4||
(F):5'- AAAAGGACTTGCTACCTTCACC -3'
(R):5'- CAGCAACAGTAGGGAGATCC -3'
(F):5'- CTGCTGGGCCCATTCTTTCAAAAG -3'
(R):5'- GTTGTCCTTTCAGACAGACAGAC -3'