Incidental Mutation 'R6666:Mefv'
| ID |
526995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mefv
|
| Ensembl Gene |
ENSMUSG00000022534 |
| Gene Name |
Mediterranean fever |
| Synonyms |
FMF, TRIM20, pyrin, marenostrin |
| MMRRC Submission |
044786-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6666 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3525862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 802
(N802Y)
|
| 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: N761Y
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: N761Y
| 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 |
possibly damaging
Transcript: ENSMUST00000100222
AA Change: N802Y
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: N802Y
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (46/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
C |
A |
10: 21,469,228 (GRCm39) |
|
probably null |
Het |
| Arhgap24 |
A |
G |
5: 102,700,163 (GRCm39) |
|
probably null |
Het |
| Atp12a |
G |
T |
14: 56,610,821 (GRCm39) |
V322L |
probably benign |
Het |
| Capza1 |
A |
C |
3: 104,735,922 (GRCm39) |
|
probably null |
Het |
| Cela3a |
A |
T |
4: 137,131,175 (GRCm39) |
S188T |
probably benign |
Het |
| Cplx1 |
G |
T |
5: 108,668,031 (GRCm39) |
Y123* |
probably null |
Het |
| Ddias |
A |
T |
7: 92,507,289 (GRCm39) |
D875E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,670,172 (GRCm39) |
E715G |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,376,426 (GRCm39) |
T380A |
probably benign |
Het |
| Fancd2 |
T |
C |
6: 113,562,470 (GRCm39) |
V1270A |
probably damaging |
Het |
| Foxh1 |
A |
G |
15: 76,552,613 (GRCm39) |
F367S |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gprc5a |
A |
G |
6: 135,056,473 (GRCm39) |
I307V |
probably benign |
Het |
| Gtpbp3 |
A |
G |
8: 71,943,582 (GRCm39) |
D212G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,920,856 (GRCm39) |
V1029A |
probably damaging |
Het |
| Il22ra1 |
A |
T |
4: 135,477,772 (GRCm39) |
H281L |
probably damaging |
Het |
| Il2rb |
TAGTCA |
TAGTCAGTCA |
15: 78,366,034 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
C |
11: 94,956,652 (GRCm39) |
T170A |
probably benign |
Het |
| Kdm3a |
T |
C |
6: 71,588,974 (GRCm39) |
E345G |
probably benign |
Het |
| Kif11 |
T |
C |
19: 37,398,214 (GRCm39) |
I680T |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 64,990,301 (GRCm39) |
D547N |
probably benign |
Het |
| Limk2 |
T |
A |
11: 3,310,493 (GRCm39) |
E49D |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,151,656 (GRCm39) |
F120I |
probably benign |
Het |
| Ms4a2 |
C |
T |
19: 11,595,787 (GRCm39) |
S168N |
probably benign |
Het |
| Myct1 |
T |
C |
10: 5,554,333 (GRCm39) |
S67P |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,638 (GRCm39) |
E933G |
probably damaging |
Het |
| Naif1 |
C |
A |
2: 32,344,863 (GRCm39) |
T189K |
probably damaging |
Het |
| Nppb |
A |
G |
4: 148,070,463 (GRCm39) |
I11V |
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,620,200 (GRCm39) |
D29G |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,618,338 (GRCm39) |
Y782C |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,331 (GRCm39) |
I277F |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,359,135 (GRCm39) |
|
probably null |
Het |
| Or9m1 |
T |
A |
2: 87,733,852 (GRCm39) |
H56L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,413,516 (GRCm39) |
T375A |
probably benign |
Het |
| Pcdhgb1 |
G |
T |
18: 37,814,546 (GRCm39) |
E346* |
probably null |
Het |
| Pds5b |
G |
T |
5: 150,701,631 (GRCm39) |
S754I |
probably damaging |
Het |
| Scnn1g |
G |
A |
7: 121,366,611 (GRCm39) |
D603N |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,917,534 (GRCm39) |
D386G |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,425,083 (GRCm39) |
L493P |
probably damaging |
Het |
| Vrk1 |
A |
G |
12: 106,024,910 (GRCm39) |
E262G |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,963 (GRCm39) |
T567A |
possibly damaging |
Het |
| Zbtb11 |
A |
T |
16: 55,826,615 (GRCm39) |
K846I |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,720,140 (GRCm39) |
T1113A |
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,606,596 (GRCm39) |
S535R |
probably benign |
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 |
|
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 |
|
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'- TTCCCAGGACCTGAACTGTC -3'
(R):5'- ACTGACTGGCGCTTAAGAAC -3'
Sequencing Primer
(F):5'- CCAGGACCTGAACTGTCTTATC -3'
(R):5'- CTGGCGCTTAAGAACATGCTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation