Incidental Mutation 'R2169:Mefv'
ID 235687
Institutional Source Beutler Lab
Gene Symbol Mefv
Ensembl Gene ENSMUSG00000022534
Gene Name Mediterranean fever
Synonyms FMF, TRIM20, pyrin, marenostrin
MMRRC Submission 040172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R2169 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 3525082-3535961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3528752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 593 (V593A)
Ref Sequence ENSEMBL: ENSMUSP00000097795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023180] [ENSMUST00000100222] [ENSMUST00000229725]
AlphaFold Q9JJ26
Predicted Effect probably benign
Transcript: ENSMUST00000023180
AA Change: V563A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: V563A

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 probably benign
Transcript: ENSMUST00000100222
AA Change: V593A

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: V593A

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
AA Change: V563A

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,622,349 (GRCm39) T606A probably benign Het
Adtrp T A 13: 41,920,905 (GRCm39) S221C possibly damaging Het
Ap1g2 T A 14: 55,336,797 (GRCm39) probably null Het
Arhgef5 A T 6: 43,251,354 (GRCm39) M702L probably benign Het
Axdnd1 A G 1: 156,245,879 (GRCm39) V34A probably damaging Het
Ccdc154 T A 17: 25,389,897 (GRCm39) V509E probably damaging Het
Cttnbp2 C T 6: 18,426,096 (GRCm39) D761N probably benign Het
Ddx18 A T 1: 121,486,138 (GRCm39) probably null Het
Dipk1a A T 5: 108,057,325 (GRCm39) L411* probably null Het
Fam241b A T 10: 61,945,745 (GRCm39) I4N probably damaging Het
Gm5800 T C 14: 51,951,135 (GRCm39) K155E possibly damaging Het
Hemgn T A 4: 46,396,417 (GRCm39) H273L possibly damaging Het
Hsp90aa1 A G 12: 110,659,168 (GRCm39) V543A probably damaging Het
Hspa1l A G 17: 35,196,299 (GRCm39) K113E probably benign Het
Hspb2 A G 9: 50,663,015 (GRCm39) I38T probably damaging Het
Htt A T 5: 35,034,819 (GRCm39) E2021D probably benign Het
Lrpprc C T 17: 85,077,505 (GRCm39) R394Q probably benign Het
Lrrc8b T C 5: 105,629,753 (GRCm39) Y700H probably damaging Het
Mrgprh C T 17: 13,095,856 (GRCm39) T32M probably benign Het
Mrpl18 A G 17: 13,132,655 (GRCm39) probably null Het
Muc1 A G 3: 89,138,903 (GRCm39) E504G probably damaging Het
Ndufa13 G A 8: 70,347,169 (GRCm39) A77V probably damaging Het
Or8g33 A G 9: 39,337,654 (GRCm39) F238L possibly damaging Het
Pgbd5 T A 8: 125,111,363 (GRCm39) probably null Het
Pgm5 T A 19: 24,812,179 (GRCm39) I118F probably damaging Het
Phyhip T C 14: 70,704,572 (GRCm39) F264L possibly damaging Het
Polr3e C T 7: 120,531,360 (GRCm39) R176W probably damaging Het
Prkacb C T 3: 146,452,438 (GRCm39) probably null Het
Rab19 T G 6: 39,360,975 (GRCm39) V41G possibly damaging Het
Rapgef5 A G 12: 117,679,130 (GRCm39) Y234C probably benign Het
Slc26a5 T C 5: 22,018,863 (GRCm39) T659A probably damaging Het
Slc6a2 G A 8: 93,720,729 (GRCm39) V449I probably benign Het
Stab2 A G 10: 86,723,726 (GRCm39) S1490P probably damaging Het
Tln1 T C 4: 43,548,005 (GRCm39) T713A probably damaging Het
Tmc6 A T 11: 117,659,932 (GRCm39) L732Q probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn1r203 A T 13: 22,708,905 (GRCm39) K229* probably null Het
Xylt1 G A 7: 117,266,660 (GRCm39) G893R probably damaging Het
Ythdf1 A T 2: 180,553,907 (GRCm39) S69T probably damaging Het
Zfp114 C T 7: 23,880,509 (GRCm39) T285I probably benign Het
Zfp458 T C 13: 67,405,113 (GRCm39) E439G probably damaging Het
Zfp65 G A 13: 67,858,499 (GRCm39) T55I probably damaging Het
Zmym1 C T 4: 126,947,996 (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
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'- TTAATGGCCATGCTTCCTGGC -3'
(R):5'- ATGATCTTGGAGGGCATTCC -3'

Sequencing Primer
(F):5'- CCATGCTTCCTGGCTTGGG -3'
(R):5'- GGGCATTCCTAGATACATACTTCCAG -3'
Posted On 2014-10-01