|Institutional Source||Beutler Lab|
|Gene Name||v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian)|
|Synonyms||Krml1, Krml, Kreisler|
|Is this an essential gene?||Possibly essential (E-score: 0.720)|
|Stock #||R2240 (G1)|
|Chromosomal Location||160363703-160367065 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 160366027 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 217 (V217E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096728 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099126]|
|Predicted Effect||probably damaging
AA Change: V217E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V217E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant homozygotes exhibit segmentation defects in the caudal hindbrain, loss of facial motor neurons, impaired inner ear development, arrested maturation of kidney podocytes, reduced fertility, and, in some cases, lethality at birth from apnea. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mafb||
(F):5'- CTTGACCTTGTAGGCGTCTC -3'
(R):5'- TGTGACTCACGATGACCTGG -3'
(F):5'- TGCTCCACCTGCTGAATGAG -3'
(R):5'- TCACGATGACCTGGGCCAG -3'