Incidental Mutation 'IGL02185:Mefv'
ID |
283592 |
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)
|
Stock # |
IGL02185
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3533714 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 186
(T186A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023180]
[ENSMUST00000100222]
[ENSMUST00000229725]
|
AlphaFold |
Q9JJ26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023180
AA Change: T186A
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000023180 Gene: ENSMUSG00000022534 AA Change: T186A
Domain | Start | End | E-Value | Type |
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: T186A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000097795 Gene: ENSMUSG00000022534 AA Change: T186A
Domain | Start | End | E-Value | Type |
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: T186A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh5 |
A |
G |
3: 138,156,815 (GRCm39) |
D167G |
probably benign |
Het |
C9orf72 |
A |
T |
4: 35,197,046 (GRCm39) |
W340R |
probably damaging |
Het |
Cand2 |
G |
A |
6: 115,766,471 (GRCm39) |
A359T |
probably benign |
Het |
Cnnm2 |
T |
C |
19: 46,751,434 (GRCm39) |
V408A |
probably benign |
Het |
Eloa |
A |
G |
4: 135,740,290 (GRCm39) |
|
probably benign |
Het |
Ern2 |
T |
C |
7: 121,772,598 (GRCm39) |
|
probably benign |
Het |
Hs6st3 |
A |
G |
14: 120,106,296 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
T |
8: 111,233,108 (GRCm39) |
I1736F |
possibly damaging |
Het |
Ifrd2 |
A |
T |
9: 107,468,290 (GRCm39) |
I253F |
probably benign |
Het |
Kctd7 |
G |
A |
5: 130,181,299 (GRCm39) |
V241I |
possibly damaging |
Het |
Lcp1 |
T |
C |
14: 75,466,740 (GRCm39) |
F616L |
possibly damaging |
Het |
Lyst |
C |
T |
13: 13,835,678 (GRCm39) |
Q1787* |
probably null |
Het |
Mapkbp1 |
A |
T |
2: 119,845,144 (GRCm39) |
T342S |
possibly damaging |
Het |
Mcph1 |
A |
G |
8: 18,719,006 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
T |
C |
7: 71,730,571 (GRCm39) |
H868R |
probably benign |
Het |
Nol9 |
T |
A |
4: 152,142,368 (GRCm39) |
I666N |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
Or6c205 |
G |
T |
10: 129,086,904 (GRCm39) |
C167F |
possibly damaging |
Het |
Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
Pum2 |
T |
C |
12: 8,798,955 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
A |
C |
14: 52,349,685 (GRCm39) |
K24N |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,797,548 (GRCm39) |
T122S |
probably damaging |
Het |
Sfn |
A |
G |
4: 133,328,636 (GRCm39) |
S149P |
probably benign |
Het |
Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
Slc35a1 |
A |
G |
4: 34,675,584 (GRCm39) |
V81A |
probably benign |
Het |
Trav21-dv12 |
A |
T |
14: 54,113,955 (GRCm39) |
D25V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,598,878 (GRCm39) |
H11018R |
possibly damaging |
Het |
Txn1 |
A |
T |
4: 57,950,883 (GRCm39) |
Y49N |
probably benign |
Het |
Ulk2 |
C |
T |
11: 61,672,886 (GRCm39) |
A903T |
probably damaging |
Het |
Vmn2r77 |
G |
A |
7: 86,444,360 (GRCm39) |
M4I |
unknown |
Het |
Vmn2r85 |
G |
T |
10: 130,254,561 (GRCm39) |
L708I |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vrk2 |
T |
A |
11: 26,485,638 (GRCm39) |
R117* |
probably null |
Het |
Xpo6 |
A |
T |
7: 125,712,980 (GRCm39) |
|
probably benign |
Het |
Zdhhc14 |
C |
A |
17: 5,803,157 (GRCm39) |
T420K |
probably benign |
Het |
Zfp334 |
G |
T |
2: 165,228,869 (GRCm39) |
|
probably benign |
Het |
Zfp958 |
T |
A |
8: 4,678,990 (GRCm39) |
C338* |
probably null |
Het |
|
Other mutations in Mefv |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2015-04-16 |