|Institutional Source||Beutler Lab|
|Gene Name||IKAROS family zinc finger 3|
|Synonyms||Zfpn1a3, Aiolos, 5830411O07Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6237 (G1)|
|Chromosomal Location||98464902-98546031 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 98467053 bp (GRCm38)|
|Amino Acid Change||Arginine to Leucine at position 486 (R486L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099430 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103141]|
AA Change: R486L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R486L
|Meta Mutation Damage Score||0.8517|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mutants exhibit greatly reduced B cell populations in the peritoneum, marginal zone and recirculating bone marrow. Aging mutants express autoantibodies, frequently develop B cell lymphomas, and display symptoms characteristic of SLE. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ikzf3||
(F):5'- CATGATTGAGAGCTAACAGAACTGG -3'
(R):5'- TGGGATGCCTCTTCTGAAGG -3'
(F):5'- CTAACAGAACTGGGTGGGACTGTG -3'
(R):5'- ATGCCTCTTCTGAAGGAGGTCC -3'