Incidental Mutation 'R1312:Mefv'
ID |
157982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mefv
|
Ensembl Gene |
ENSMUSG00000022534 |
Gene Name |
Mediterranean fever |
Synonyms |
FMF, TRIM20, pyrin, marenostrin |
MMRRC Submission |
039378-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R1312 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 3526398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023180]
[ENSMUST00000100222]
[ENSMUST00000229725]
|
AlphaFold |
Q9JJ26 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023180
|
SMART Domains |
Protein: ENSMUSP00000023180 Gene: ENSMUSG00000022534
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
|
SMART Domains |
Protein: ENSMUSP00000097795 Gene: ENSMUSG00000022534
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
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 85.7%
|
Validation Efficiency |
98% (41/42) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,666,585 (GRCm39) |
V52A |
probably benign |
Het |
Arhgap32 |
T |
C |
9: 32,166,608 (GRCm39) |
V415A |
probably benign |
Het |
Cacna2d3 |
T |
C |
14: 28,767,625 (GRCm39) |
D750G |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
Edem2 |
T |
G |
2: 155,544,505 (GRCm39) |
D415A |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
Ercc5 |
T |
C |
1: 44,203,179 (GRCm39) |
F272S |
probably damaging |
Het |
Fcamr |
C |
T |
1: 130,739,224 (GRCm39) |
R175C |
probably damaging |
Het |
Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
Gm14443 |
A |
T |
2: 175,013,383 (GRCm39) |
|
probably benign |
Het |
Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
Insrr |
A |
G |
3: 87,707,797 (GRCm39) |
T80A |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
Lgals9 |
G |
A |
11: 78,867,443 (GRCm39) |
Q42* |
probably null |
Het |
Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
Mtrex |
A |
C |
13: 113,019,785 (GRCm39) |
L775* |
probably null |
Het |
Or11g27 |
T |
A |
14: 50,771,652 (GRCm39) |
I261K |
probably benign |
Het |
Pde1b |
T |
G |
15: 103,434,700 (GRCm39) |
S339A |
possibly damaging |
Het |
Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
Rho |
C |
G |
6: 115,912,566 (GRCm39) |
N160K |
probably damaging |
Het |
Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
Styxl2 |
A |
T |
1: 165,926,860 (GRCm39) |
N917K |
possibly damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
probably damaging |
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 |
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 |
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'- TGCATCCTACGTCATTCAAGGCCC -3'
(R):5'- GCAAAACCTTTATGACCCCGCTTTC -3'
Sequencing Primer
(F):5'- GTCATTCAAGGCCCCCCAG -3'
(R):5'- gatgtagcaaaatgggaaggg -3'
|
Posted On |
2014-02-18 |