|Institutional Source||Beutler Lab|
|Gene Name||macrophage migration inhibitory factor (glycosylation-inhibiting factor)|
|Is this an essential gene?||Possibly non essential (E-score: 0.438)|
|Stock #||R1935 (G1)|
|Chromosomal Location||75859353-75860240 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 75859847 bp|
|Amino Acid Change||Histidine to Asparagine at position 41 (H41N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041149 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038169]|
MACROPHAGE MIGRATION INHIBITORY FACTOR Y95F MUTANT [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MACROPHAGE MIGRATION INHIBITORY FACTOR COMPLEXED WITH (E)-2-FLUORO-P-HYDROXYCINNAMATE [X-RAY DIFFRACTION]
Crystal structure of covalently modified macrophage inhibitory factor [X-RAY DIFFRACTION]
|Predicted Effect||possibly damaging
AA Change: H41N
PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: H41N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3717|
|Coding Region Coverage||
|Validation Efficiency||95% (95/100)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for 3 distinct targeted alleles show varying immune system defects. Among these are increased endotoxin resistance and Pseudomonas clearance; reduced size of induced fibrosarcomas and lower mitotic index; and decreased contact hypersensitivity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mif||
(F):5'- TCAGCTAAGCACGTGGTCTAG -3'
(R):5'- CACCATGCCTATGTTCATCGTG -3'
(F):5'- TGCCAGTGTCCTCTGAACG -3'
(R):5'- AAGCCCGCACAGGTTTG -3'