Incidental Mutation 'R0158:Mefv'
ID 23005
Institutional Source Beutler Lab
Gene Symbol Mefv
Ensembl Gene ENSMUSG00000022534
Gene Name Mediterranean fever
Synonyms FMF, TRIM20, pyrin, marenostrin
MMRRC Submission 038438-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R0158 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 16
Chromosomal Location 3525082-3535961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3533320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 317 (E317G)
Ref Sequence ENSEMBL: ENSMUSP00000097795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023180] [ENSMUST00000100222] [ENSMUST00000229725]
AlphaFold Q9JJ26
Predicted Effect possibly damaging
Transcript: ENSMUST00000023180
AA Change: E317G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: E317G

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: E317G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: E317G

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 possibly damaging
Transcript: ENSMUST00000229725
AA Change: E317G

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 93% (79/85)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 C T 16: 20,371,316 (GRCm39) R437C probably damaging Het
Abhd3 A G 18: 10,647,840 (GRCm39) Y315H possibly damaging Het
Adam19 C T 11: 46,033,861 (GRCm39) P891L probably damaging Het
Ampd1 T A 3: 102,999,046 (GRCm39) Y400* probably null Het
Ap1g1 T C 8: 110,582,267 (GRCm39) S724P probably benign Het
Bst2 T A 8: 71,989,861 (GRCm39) T71S possibly damaging Het
C3 A G 17: 57,531,851 (GRCm39) probably null Het
Cacna2d1 C A 5: 16,566,815 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,213,709 (GRCm39) H43Y possibly damaging Het
Ccdc71 T G 9: 108,341,336 (GRCm39) V383G probably benign Het
Cd109 A T 9: 78,596,214 (GRCm39) Q849L possibly damaging Het
Cdkn2a A T 4: 89,195,004 (GRCm39) H115Q possibly damaging Het
Ces1e T C 8: 93,946,057 (GRCm39) E161G probably benign Het
Cggbp1 C T 16: 64,676,201 (GRCm39) S89L possibly damaging Het
Crocc A T 4: 140,769,553 (GRCm39) probably benign Het
Cspg4b T A 13: 113,505,687 (GRCm39) L2272* probably null Het
Eef1akmt3 G A 10: 126,869,142 (GRCm39) Q111* probably null Het
Exoc7 T C 11: 116,186,118 (GRCm39) N361S probably benign Het
Fat2 G T 11: 55,187,011 (GRCm39) S1278R probably benign Het
Fbxo42 A G 4: 140,927,640 (GRCm39) N640S probably benign Het
Fbxw25 A G 9: 109,483,720 (GRCm39) V164A possibly damaging Het
Fcgbpl1 A G 7: 27,854,917 (GRCm39) I1848V probably damaging Het
Foxs1 T C 2: 152,774,330 (GRCm39) E241G probably damaging Het
Fras1 A T 5: 96,924,493 (GRCm39) I3645F possibly damaging Het
Gm14496 T A 2: 181,639,206 (GRCm39) V432E probably benign Het
H3c2 T A 13: 23,936,693 (GRCm39) C111S probably damaging Het
Herc1 T A 9: 66,403,203 (GRCm39) L4374* probably null Het
Ift122 T C 6: 115,901,445 (GRCm39) probably benign Het
Itgav C A 2: 83,622,381 (GRCm39) N654K probably benign Het
Itih5 T C 2: 10,239,803 (GRCm39) probably benign Het
Jak2 C A 19: 29,289,157 (GRCm39) T1103K probably benign Het
Kcnc4 C A 3: 107,365,920 (GRCm39) C96F probably benign Het
Med13l C A 5: 118,880,514 (GRCm39) S1202Y unknown Het
Ncoa2 T C 1: 13,222,608 (GRCm39) T1226A probably benign Het
Nktr C T 9: 121,579,757 (GRCm39) probably benign Het
Nudt5 G A 2: 5,867,114 (GRCm39) V61M probably damaging Het
Or51a39 C T 7: 102,363,162 (GRCm39) A153T probably benign Het
Pakap A G 4: 57,709,649 (GRCm39) D198G possibly damaging Het
Pcdhb2 A C 18: 37,430,283 (GRCm39) Y752S probably damaging Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pnp2 G A 14: 51,201,761 (GRCm39) R249H probably damaging Het
Rgs3 A T 4: 62,542,121 (GRCm39) I32F probably damaging Het
Rnf139 A G 15: 58,770,727 (GRCm39) T251A probably benign Het
Rnf41 A G 10: 128,274,104 (GRCm39) E252G probably damaging Het
Rxfp2 T A 5: 149,975,093 (GRCm39) F220Y probably benign Het
Sdcbp A G 4: 6,379,042 (GRCm39) D43G possibly damaging Het
Serpina3f A G 12: 104,183,267 (GRCm39) D43G probably damaging Het
Sftpc T C 14: 70,758,887 (GRCm39) K154R probably null Het
Simc1 A G 13: 54,672,530 (GRCm39) T293A probably benign Het
Skint6 A T 4: 113,042,011 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,225,208 (GRCm39) probably benign Het
Spata31e2 T G 1: 26,723,032 (GRCm39) H716P probably damaging Het
Ston2 A T 12: 91,707,376 (GRCm39) I78N probably damaging Het
Taok3 T C 5: 117,355,307 (GRCm39) probably null Het
Tent4b G A 8: 88,977,371 (GRCm39) G391D probably damaging Het
Tiam1 C T 16: 89,589,889 (GRCm39) probably benign Het
Tnfsf15 T C 4: 63,648,229 (GRCm39) H137R possibly damaging Het
Tpte G A 8: 22,817,755 (GRCm39) R247H possibly damaging Het
Trim2 T C 3: 84,117,476 (GRCm39) probably benign Het
Ulk1 A T 5: 110,936,810 (GRCm39) probably benign Het
Utp4 T G 8: 107,640,018 (GRCm39) H442Q probably null Het
Vmn1r193 T A 13: 22,403,798 (GRCm39) I65F probably damaging Het
Vps54 A T 11: 21,256,962 (GRCm39) Q690L probably damaging Het
Ybx2 T C 11: 69,831,145 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,568,993 (GRCm39) G697D possibly damaging Het
Zfp202 C T 9: 40,120,212 (GRCm39) Q218* probably null Het
Zfp820 G A 17: 22,038,800 (GRCm39) T176I probably benign 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
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
R6056:Mefv UTSW 16 3,525,906 (GRCm39) missense possibly damaging 0.73
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'- TGGAATCTCTGGCCCAAGACCTAC -3'
(R):5'- GGAGTCTCATTCGCATGAGAACAGC -3'

Sequencing Primer
(F):5'- AGCCTGTGATTCTCTACACAAG -3'
(R):5'- TTCGCATGAGAACAGCTACTCTG -3'
Posted On 2013-04-16