Incidental Mutation 'IGL00583:Mefv'
ID4019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mefv
Ensembl Gene ENSMUSG00000022534
Gene NameMediterranean fever
SynonymsTRIM20, marenostrin, pyrin, FMF
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL00583
Quality Score
Status
Chromosome16
Chromosomal Location3707218-3718097 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 3716072 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 112 (K112*)
Ref Sequence ENSEMBL: ENSMUSP00000154892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023180] [ENSMUST00000100222] [ENSMUST00000229725]
Predicted Effect probably null
Transcript: ENSMUST00000023180
AA Change: K112*
SMART Domains Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: K112*

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 null
Transcript: ENSMUST00000100222
AA Change: K112*
SMART Domains Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: K112*

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 null
Transcript: ENSMUST00000229725
AA Change: K112*
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 C T 13: 104,297,218 Q52* probably null Het
Ambp G T 4: 63,154,018 A13D possibly damaging Het
Angptl3 A G 4: 99,034,840 T283A probably damaging Het
Atp13a5 A T 16: 29,275,453 probably benign Het
Borcs8 A G 8: 70,145,107 H93R probably benign Het
Bzw1 T C 1: 58,401,335 probably benign Het
Cd200 A C 16: 45,397,109 I73R probably damaging Het
Coq8a T C 1: 180,168,389 D528G probably benign Het
Edem1 T A 6: 108,855,559 probably benign Het
Enpp5 C T 17: 44,085,197 probably benign Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Erich6 T C 3: 58,637,043 E41G unknown Het
Gls2 A G 10: 128,204,882 M340V probably benign Het
Gna12 A T 5: 140,761,018 V224E probably damaging Het
Golph3l T C 3: 95,589,103 L46P possibly damaging Het
Limch1 T C 5: 66,953,679 I83T probably damaging Het
Mas1 T C 17: 12,841,965 I190M possibly damaging Het
Oas1e T A 5: 120,794,272 E102V probably damaging Het
Pde6a T C 18: 61,257,268 C521R probably damaging Het
Pigw A G 11: 84,877,888 V205A possibly damaging Het
Ptpn21 G A 12: 98,733,601 S18F probably damaging Het
Shprh C T 10: 11,188,020 T1279I probably benign Het
Slc11a2 T C 15: 100,397,737 E501G probably benign Het
Sult2a3 T A 7: 14,122,980 Y5F probably benign Het
Tll1 A G 8: 64,205,292 L31P probably benign Het
Tubgcp3 G A 8: 12,621,906 Q779* probably null Het
U2surp T A 9: 95,461,524 probably benign Het
Other mutations in Mefv
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00537:Mefv APN 16 3710960 missense probably benign 0.01
IGL00963:Mefv APN 16 3715720 missense possibly damaging 0.83
IGL02185:Mefv APN 16 3715850 missense probably benign 0.09
IGL02500:Mefv APN 16 3713577 missense probably damaging 1.00
R0158:Mefv UTSW 16 3715456 missense possibly damaging 0.67
R1312:Mefv UTSW 16 3708534 splice site probably benign
R1793:Mefv UTSW 16 3708664 missense possibly damaging 0.53
R1956:Mefv UTSW 16 3717827 missense probably damaging 1.00
R2169:Mefv UTSW 16 3710888 missense probably benign 0.24
R2973:Mefv UTSW 16 3715694 nonsense probably null
R3723:Mefv UTSW 16 3708194 critical splice donor site probably null
R3724:Mefv UTSW 16 3708194 critical splice donor site probably null
R3953:Mefv UTSW 16 3715400 missense possibly damaging 0.60
R4276:Mefv UTSW 16 3715569 missense probably benign 0.41
R4650:Mefv UTSW 16 3717818 missense probably damaging 1.00
R4651:Mefv UTSW 16 3717818 missense probably damaging 1.00
R4652:Mefv UTSW 16 3717818 missense probably damaging 1.00
R4670:Mefv UTSW 16 3708207 missense possibly damaging 0.67
R4781:Mefv UTSW 16 3715334 missense probably benign 0.00
R5593:Mefv UTSW 16 3715451 missense probably benign 0.00
R5834:Mefv UTSW 16 3716046 missense probably damaging 0.97
R5867:Mefv UTSW 16 3715933 missense probably damaging 1.00
R5954:Mefv UTSW 16 3715715 missense probably benign 0.09
R6056:Mefv UTSW 16 3708042 missense possibly damaging 0.73
R6260:Mefv UTSW 16 3713034 missense probably benign 0.03
R6409:Mefv UTSW 16 3710793 critical splice donor site probably null
R6511:Mefv UTSW 16 3715946 missense probably benign 0.00
R6666:Mefv UTSW 16 3707998 missense possibly damaging 0.88
R6952:Mefv UTSW 16 3710880 missense probably damaging 1.00
R7259:Mefv UTSW 16 3713053 missense probably damaging 1.00
R7410:Mefv UTSW 16 3715681 missense probably damaging 1.00
R7444:Mefv UTSW 16 3715522 missense probably benign 0.21
X0064:Mefv UTSW 16 3710841 missense possibly damaging 0.71
Posted On2012-04-20