Incidental Mutation 'IGL00537:Mefv'
ID 4020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mefv
Ensembl Gene ENSMUSG00000022534
Gene Name Mediterranean fever
Synonyms FMF, TRIM20, pyrin, marenostrin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL00537
Quality Score
Status
Chromosome 16
Chromosomal Location 3525082-3535961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3528824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 539 (Y539C)
Ref Sequence ENSEMBL: ENSMUSP00000154892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023180] [ENSMUST00000100222] [ENSMUST00000229725]
AlphaFold Q9JJ26
Predicted Effect probably benign
Transcript: ENSMUST00000023180
AA Change: Y539C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: Y539C

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: Y569C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: Y569C

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: Y539C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcap29 C A 12: 31,667,095 (GRCm39) E189* probably null Het
Chd5 T C 4: 152,445,059 (GRCm39) Y347H probably damaging Het
Cyp2c55 T A 19: 39,000,150 (GRCm39) N116K possibly damaging Het
Dnah5 T C 15: 28,458,848 (GRCm39) probably null Het
Erlec1 C A 11: 30,889,591 (GRCm39) V185L probably benign Het
Glb1l3 T A 9: 26,740,346 (GRCm39) Y328F probably damaging Het
Gnao1 G A 8: 94,538,308 (GRCm39) V50M probably damaging Het
Mcpt4 T C 14: 56,298,487 (GRCm39) T83A probably benign Het
Pkhd1l1 A T 15: 44,455,388 (GRCm39) I4050F possibly damaging Het
Pkhd1l1 C T 15: 44,363,443 (GRCm39) T621M probably benign Het
Ptprq A G 10: 107,546,383 (GRCm39) S304P probably benign Het
Rptor C T 11: 119,690,271 (GRCm39) P372L possibly damaging Het
Soat1 A T 1: 156,294,300 (GRCm39) N13K probably benign Het
Sspo G A 6: 48,475,147 (GRCm39) probably benign Het
Vps13a T A 19: 16,657,409 (GRCm39) T1787S probably benign Het
Wfdc12 A T 2: 164,032,387 (GRCm39) L18Q probably null Het
Zfp955b T C 17: 33,521,847 (GRCm39) F439L probably damaging Het
Zmym4 G A 4: 126,783,851 (GRCm39) S1125L probably benign Het
Other mutations in Mefv
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20