Incidental Mutation 'R6056:Mefv'
ID 484436
Institutional Source Beutler Lab
Gene Symbol Mefv
Ensembl Gene ENSMUSG00000022534
Gene Name Mediterranean fever
Synonyms FMF, TRIM20, pyrin, marenostrin
MMRRC Submission 044223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6056 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 3525082-3535961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3525906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 787 (S787F)
Ref Sequence ENSEMBL: ENSMUSP00000097795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023180] [ENSMUST00000100222] [ENSMUST00000229725]
AlphaFold Q9JJ26
Predicted Effect probably benign
Transcript: ENSMUST00000023180
SMART Domains Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534

DomainStartEndE-ValueType
PYRIN 5 88 8.89e-32 SMART
BBOX 439 481 4.75e-11 SMART
low complexity region 490 503 N/A INTRINSIC
SCOP:d1f5qb1 519 616 8e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000100222
AA Change: S787F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: S787F

DomainStartEndE-ValueType
PYRIN 5 88 8.89e-32 SMART
BBOX 469 511 4.75e-11 SMART
low complexity region 520 533 N/A INTRINSIC
SCOP:d1f5qb1 549 646 6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229725
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 96% (99/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop normally but show increased susceptibilty to infection. Mice homozygous for another knock-out allele exhibit increased macrophage secretion of IL1b and Il18 following stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,115 (GRCm39) W162R probably benign Het
4930438A08Rik C A 11: 58,184,464 (GRCm39) P394H probably damaging Het
Aggf1 C T 13: 95,508,123 (GRCm39) C81Y probably benign Het
Agxt2 A T 15: 10,378,963 (GRCm39) D188V probably damaging Het
Angpt2 T C 8: 18,748,132 (GRCm39) K376R probably benign Het
Anxa5 A G 3: 36,504,840 (GRCm39) S241P probably damaging Het
Aox3 A T 1: 58,209,018 (GRCm39) K850N probably damaging Het
Arid5a T C 1: 36,358,473 (GRCm39) M415T probably benign Het
Aspa T A 11: 73,199,578 (GRCm39) N233I probably damaging Het
Atp4b C T 8: 13,438,782 (GRCm39) R198Q probably damaging Het
Atp8b2 A T 3: 89,853,528 (GRCm39) V719E possibly damaging Het
Bltp2 C A 11: 78,162,210 (GRCm39) L691I possibly damaging Het
Cacna1s T G 1: 136,033,574 (GRCm39) V1017G probably damaging Het
Chrna4 G T 2: 180,671,235 (GRCm39) Q174K probably damaging Het
Chrnb1 A T 11: 69,677,765 (GRCm39) V329D probably damaging Het
Chst14 T C 2: 118,758,214 (GRCm39) L336P probably damaging Het
Clec2e T C 6: 129,077,772 (GRCm39) D22G probably benign Het
Csrnp2 A C 15: 100,380,263 (GRCm39) S343A probably benign Het
Dapl1 C A 2: 59,315,057 (GRCm39) A2E probably damaging Het
Dlec1 G T 9: 118,950,991 (GRCm39) R519L probably damaging Het
Dmgdh T A 13: 93,845,251 (GRCm39) F415I possibly damaging Het
Dmgdh T C 13: 93,888,834 (GRCm39) V824A probably damaging Het
Dnah11 T G 12: 117,892,191 (GRCm39) T3661P probably benign Het
Dnah3 A G 7: 119,629,254 (GRCm39) F1434L probably damaging Het
Dnajc11 C A 4: 152,062,583 (GRCm39) probably benign Het
Dot1l A G 10: 80,621,929 (GRCm39) E527G probably damaging Het
Drc7 T C 8: 95,801,679 (GRCm39) L680P probably damaging Het
Dysf T C 6: 84,083,844 (GRCm39) Y742H probably benign Het
Ece1 A G 4: 137,688,958 (GRCm39) Y665C probably damaging Het
Emc1 A G 4: 139,081,533 (GRCm39) K54E possibly damaging Het
Enoph1 C T 5: 100,215,760 (GRCm39) T247M probably damaging Het
Exoc2 T C 13: 31,084,812 (GRCm39) K383R probably benign Het
Fam227b A T 2: 125,962,972 (GRCm39) H181Q probably damaging Het
Fsip2 A T 2: 82,816,017 (GRCm39) M3917L probably benign Het
Gtf3a T A 5: 146,892,338 (GRCm39) probably benign Het
Hgfac T A 5: 35,198,973 (GRCm39) C11* probably null Het
Hmcn1 C A 1: 150,539,660 (GRCm39) A2944S probably damaging Het
Hps5 T A 7: 46,416,521 (GRCm39) Y947F probably benign Het
Ighv2-5 A T 12: 113,649,120 (GRCm39) I111K probably benign Het
Inpp5e A T 2: 26,297,860 (GRCm39) L247* probably null Het
Kbtbd11 T C 8: 15,077,577 (GRCm39) S59P probably benign Het
Kctd19 G A 8: 106,123,082 (GRCm39) H111Y probably damaging Het
Kif1a T C 1: 92,952,370 (GRCm39) D1303G probably damaging Het
Kif7 A G 7: 79,363,842 (GRCm39) V22A possibly damaging Het
Lrit3 A T 3: 129,583,004 (GRCm39) C328S probably damaging Het
Lrrc37a G T 11: 103,388,484 (GRCm39) Q2314K unknown Het
LTO1 G T 7: 144,469,023 (GRCm39) V17L possibly damaging Het
Lurap1 G T 4: 115,994,599 (GRCm39) P211T possibly damaging Het
Mbd2 T A 18: 70,713,874 (GRCm39) N5K possibly damaging Het
Mbtps1 A C 8: 120,242,341 (GRCm39) L894V probably benign Het
Miip T A 4: 147,946,792 (GRCm39) I289F probably damaging Het
Mogat2 T A 7: 98,872,720 (GRCm39) I155F possibly damaging Het
Mpp3 C A 11: 101,902,515 (GRCm39) probably null Het
Mrrf A G 2: 36,067,233 (GRCm39) K220E probably damaging Het
Mtmr6 C T 14: 60,535,619 (GRCm39) P485L probably damaging Het
Mtor G A 4: 148,621,892 (GRCm39) R1896K probably benign Het
Myh3 C T 11: 66,978,371 (GRCm39) P453S probably benign Het
Nebl A G 2: 17,455,045 (GRCm39) V112A probably benign Het
Nmnat2 G A 1: 152,950,480 (GRCm39) W55* probably null Het
Nprl3 A G 11: 32,217,432 (GRCm39) S37P probably damaging Het
Or4a73 T C 2: 89,421,445 (GRCm39) N5D possibly damaging Het
Pcdhga4 T G 18: 37,819,383 (GRCm39) S311A probably benign Het
Pcdhgb6 T C 18: 37,876,165 (GRCm39) V291A probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Peg3 T C 7: 6,712,570 (GRCm39) E884G probably damaging Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Phf12 A G 11: 77,900,341 (GRCm39) T146A probably benign Het
Polr3k C G 2: 181,506,281 (GRCm39) N10K probably damaging Het
Prickle4 C A 17: 48,001,135 (GRCm39) G144C probably damaging Het
Ptpn6 T C 6: 124,709,398 (GRCm39) Y25C probably damaging Het
Rad1 A G 15: 10,488,160 (GRCm39) I95V probably damaging Het
Rad23b A G 4: 55,382,540 (GRCm39) T248A probably benign Het
Rapgef3 T C 15: 97,656,742 (GRCm39) D299G probably damaging Het
Rcc2 T G 4: 140,444,335 (GRCm39) V342G possibly damaging Het
Rgs3 G T 4: 62,544,143 (GRCm39) R136L probably damaging Het
Scube2 A T 7: 109,432,220 (GRCm39) C399* probably null Het
Serpinb3d T C 1: 107,007,452 (GRCm39) Y178C probably damaging Het
Slc1a7 A G 4: 107,869,458 (GRCm39) T508A probably benign Het
Slc29a4 C T 5: 142,705,832 (GRCm39) R439C probably damaging Het
Sntg2 A G 12: 30,362,560 (GRCm39) I62T probably benign Het
Sowaha G A 11: 53,369,914 (GRCm39) P274L probably damaging Het
Sptan1 A G 2: 29,886,794 (GRCm39) N869S probably benign Het
Stx18 C A 5: 38,263,908 (GRCm39) A64D probably damaging Het
Stxbp5 A G 10: 9,646,430 (GRCm39) V94A probably benign Het
Sult1a1 T A 7: 126,275,624 (GRCm39) probably null Het
Susd1 G T 4: 59,379,687 (GRCm39) H313Q possibly damaging Het
Tdrd9 A T 12: 111,951,475 (GRCm39) K88N probably damaging Het
Tlr5 A C 1: 182,801,603 (GRCm39) R302S possibly damaging Het
Tnr C T 1: 159,714,479 (GRCm39) T786I probably damaging Het
Tprg1l A G 4: 154,244,552 (GRCm39) S148P probably damaging Het
Trpc4ap T A 2: 155,512,994 (GRCm39) N127I probably damaging Het
Tulp2 T A 7: 45,139,797 (GRCm39) probably null Het
Uggt2 C T 14: 119,273,381 (GRCm39) probably null Het
Ulk4 T A 9: 121,102,021 (GRCm39) Y19F probably damaging Het
Upf1 T C 8: 70,785,687 (GRCm39) Y1053C probably damaging Het
Vars2 A T 17: 35,976,680 (GRCm39) H223Q probably benign Het
Vmn2r106 T A 17: 20,487,806 (GRCm39) probably null Het
Ythdc2 T A 18: 44,973,277 (GRCm39) F305I probably damaging Het
Zfp281 T C 1: 136,553,178 (GRCm39) F52S possibly damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp335 A T 2: 164,737,018 (GRCm39) probably null Het
Other mutations in Mefv
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Mefv APN 16 3,528,824 (GRCm39) missense probably benign 0.01
IGL00583:Mefv APN 16 3,533,936 (GRCm39) nonsense probably null
IGL00963:Mefv APN 16 3,533,584 (GRCm39) missense possibly damaging 0.83
IGL02185:Mefv APN 16 3,533,714 (GRCm39) missense probably benign 0.09
IGL02500:Mefv APN 16 3,531,441 (GRCm39) missense probably damaging 1.00
R0158:Mefv UTSW 16 3,533,320 (GRCm39) missense possibly damaging 0.67
R1312:Mefv UTSW 16 3,526,398 (GRCm39) splice site probably benign
R1793:Mefv UTSW 16 3,526,528 (GRCm39) missense possibly damaging 0.53
R1956:Mefv UTSW 16 3,535,691 (GRCm39) missense probably damaging 1.00
R2169:Mefv UTSW 16 3,528,752 (GRCm39) missense probably benign 0.24
R2973:Mefv UTSW 16 3,533,558 (GRCm39) nonsense probably null
R3723:Mefv UTSW 16 3,526,058 (GRCm39) critical splice donor site probably null
R3724:Mefv UTSW 16 3,526,058 (GRCm39) critical splice donor site probably null
R3953:Mefv UTSW 16 3,533,264 (GRCm39) missense possibly damaging 0.60
R4276:Mefv UTSW 16 3,533,433 (GRCm39) missense probably benign 0.41
R4650:Mefv UTSW 16 3,535,682 (GRCm39) missense probably damaging 1.00
R4651:Mefv UTSW 16 3,535,682 (GRCm39) missense probably damaging 1.00
R4652:Mefv UTSW 16 3,535,682 (GRCm39) missense probably damaging 1.00
R4670:Mefv UTSW 16 3,526,071 (GRCm39) missense possibly damaging 0.67
R4781:Mefv UTSW 16 3,533,198 (GRCm39) missense probably benign 0.00
R5593:Mefv UTSW 16 3,533,315 (GRCm39) missense probably benign 0.00
R5834:Mefv UTSW 16 3,533,910 (GRCm39) missense probably damaging 0.97
R5867:Mefv UTSW 16 3,533,797 (GRCm39) missense probably damaging 1.00
R5954:Mefv UTSW 16 3,533,579 (GRCm39) missense probably benign 0.09
R6260:Mefv UTSW 16 3,530,898 (GRCm39) missense probably benign 0.03
R6409:Mefv UTSW 16 3,528,657 (GRCm39) critical splice donor site probably null
R6511:Mefv UTSW 16 3,533,810 (GRCm39) missense probably benign 0.00
R6666:Mefv UTSW 16 3,525,862 (GRCm39) missense possibly damaging 0.88
R6952:Mefv UTSW 16 3,528,744 (GRCm39) missense probably damaging 1.00
R7259:Mefv UTSW 16 3,530,917 (GRCm39) missense probably damaging 1.00
R7410:Mefv UTSW 16 3,533,545 (GRCm39) missense probably damaging 1.00
R7444:Mefv UTSW 16 3,533,386 (GRCm39) missense probably benign 0.21
R8140:Mefv UTSW 16 3,531,499 (GRCm39) missense probably benign 0.00
R8183:Mefv UTSW 16 3,526,446 (GRCm39) missense possibly damaging 0.70
R8279:Mefv UTSW 16 3,533,086 (GRCm39) missense unknown
R8841:Mefv UTSW 16 3,528,842 (GRCm39) missense probably benign 0.02
R8899:Mefv UTSW 16 3,528,764 (GRCm39) missense probably damaging 1.00
R9091:Mefv UTSW 16 3,535,841 (GRCm39) missense probably damaging 1.00
R9270:Mefv UTSW 16 3,535,841 (GRCm39) missense probably damaging 1.00
R9310:Mefv UTSW 16 3,533,252 (GRCm39) missense probably benign 0.00
R9355:Mefv UTSW 16 3,525,882 (GRCm39) missense probably damaging 1.00
R9645:Mefv UTSW 16 3,528,782 (GRCm39) missense probably damaging 1.00
X0064:Mefv UTSW 16 3,528,705 (GRCm39) missense possibly damaging 0.71
Z1176:Mefv UTSW 16 3,533,319 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TGTTCCCAGGACCTGAACTG -3'
(R):5'- CTGACTGGCGCTTAAGAACATG -3'

Posted On 2017-07-14