Incidental Mutation 'R7521:Mif'
ID 582672
Institutional Source Beutler Lab
Gene Symbol Mif
Ensembl Gene ENSMUSG00000033307
Gene Name macrophage migration inhibitory factor (glycosylation-inhibiting factor)
Synonyms Glif
MMRRC Submission 045593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.309) question?
Stock # R7521 (G1)
Quality Score 172.009
Status Not validated
Chromosome 10
Chromosomal Location 75695187-75696074 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75695942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 21 (S21T)
Ref Sequence ENSEMBL: ENSMUSP00000041149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038169]
AlphaFold P34884
PDB Structure 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
Transcript: ENSMUST00000038169
AA Change: S21T

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041149
Gene: ENSMUSG00000033307
AA Change: S21T

DomainStartEndE-ValueType
Pfam:MIF 2 115 1.9e-55 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 A G 17: 31,283,543 (GRCm39) N76S probably benign Het
Ahnak T C 19: 8,979,715 (GRCm39) V333A possibly damaging Het
Arid1b GGCGGC GGCGGCAGCGGC 17: 5,046,135 (GRCm39) probably benign Het
Arid1b GGGCGGCGGCGGCGGCGGCGGCGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG 17: 5,046,119 (GRCm39) probably benign Het
Arid1b A G 17: 5,392,865 (GRCm39) T2079A probably benign Het
Clca3a2 A G 3: 144,507,674 (GRCm39) *190R probably null Het
Cntnap3 G T 13: 64,919,815 (GRCm39) Q681K probably benign Het
Coro7 T C 16: 4,449,346 (GRCm39) D689G probably benign Het
Dnah9 A T 11: 65,880,663 (GRCm39) S2645T probably damaging Het
Dnm3 A T 1: 161,962,113 (GRCm39) L32H probably damaging Het
Dtx4 T C 19: 12,469,861 (GRCm39) K89E probably benign Het
Exph5 T A 9: 53,285,377 (GRCm39) N819K possibly damaging Het
Fpgt A G 3: 154,792,765 (GRCm39) S421P possibly damaging Het
Gbp5 T C 3: 142,206,382 (GRCm39) V22A probably benign Het
Gpatch1 C T 7: 34,993,213 (GRCm39) R544Q probably damaging Het
Grm5 T A 7: 87,723,480 (GRCm39) L590Q possibly damaging Het
Hc T C 2: 34,935,344 (GRCm39) D172G possibly damaging Het
Ifi209 A T 1: 173,470,261 (GRCm39) N283I probably damaging Het
Igsf11 C T 16: 38,829,274 (GRCm39) T115M probably damaging Het
Il17rd T A 14: 26,816,823 (GRCm39) M320K probably benign Het
Kdm5a T A 6: 120,409,148 (GRCm39) C1610* probably null Het
Mast3 T A 8: 71,241,412 (GRCm39) I175L probably benign Het
Mindy2 T C 9: 70,514,792 (GRCm39) Q542R probably benign Het
Nalcn T A 14: 123,530,870 (GRCm39) E1389D probably damaging Het
Or55b3 C T 7: 102,126,402 (GRCm39) R225H possibly damaging Het
Or5k8 T C 16: 58,644,257 (GRCm39) I272V probably benign Het
Or5t16 T A 2: 86,818,954 (GRCm39) T189S probably damaging Het
Or7e177 T C 9: 20,212,036 (GRCm39) I181T probably benign Het
Pcsk5 T A 19: 17,432,196 (GRCm39) D1473V probably benign Het
Phax C T 18: 56,708,990 (GRCm39) Q185* probably null Het
Ppp2r2b T A 18: 43,192,242 (GRCm39) S22C probably benign Het
Prss40 A G 1: 34,597,090 (GRCm39) F153L probably benign Het
Slc22a2 T C 17: 12,805,710 (GRCm39) S154P probably benign Het
Speer4a1 G A 5: 26,241,763 (GRCm39) T121I probably damaging Het
Tacc1 A G 8: 25,665,268 (GRCm39) V488A possibly damaging Het
Tdrp G A 8: 14,003,831 (GRCm39) Q169* probably null Het
Tmem30b C T 12: 73,592,092 (GRCm39) R341H probably benign Het
Other mutations in Mif
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0040:Mif UTSW 10 75,695,614 (GRCm39) missense probably damaging 0.99
R0393:Mif UTSW 10 75,695,638 (GRCm39) missense probably benign 0.00
R0482:Mif UTSW 10 75,695,974 (GRCm39) missense possibly damaging 0.83
R1521:Mif UTSW 10 75,695,375 (GRCm39) missense possibly damaging 0.87
R1935:Mif UTSW 10 75,695,681 (GRCm39) missense possibly damaging 0.91
R1936:Mif UTSW 10 75,695,681 (GRCm39) missense possibly damaging 0.91
R7447:Mif UTSW 10 75,695,687 (GRCm39) missense possibly damaging 0.91
R9231:Mif UTSW 10 75,695,370 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGACCGCCTGAAAGACTGC -3'
(R):5'- AGCAAGACCTCTGCAGAAG -3'

Sequencing Primer
(F):5'- CCTACAGGGCCACAGGTCTTC -3'
(R):5'- TAGTCTGACGTCAGCGGAG -3'
Posted On 2019-10-17