Incidental Mutation 'R3724:Mefv'
| ID |
270697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mefv
|
| Ensembl Gene |
ENSMUSG00000022534 |
| Gene Name |
Mediterranean fever |
| Synonyms |
FMF, TRIM20, pyrin, marenostrin |
| MMRRC Submission |
040715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R3724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 3526058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023180]
[ENSMUST00000100222]
[ENSMUST00000229725]
|
| AlphaFold |
Q9JJ26 |
| Predicted Effect |
probably null
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
|
| Meta Mutation Damage Score |
0.9486 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (49/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,876,099 (GRCm39) |
R133L |
probably damaging |
Het |
| Abhd8 |
G |
A |
8: 71,914,136 (GRCm39) |
A164V |
probably benign |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Atl1 |
A |
G |
12: 70,006,154 (GRCm39) |
T487A |
probably damaging |
Het |
| C2cd6 |
C |
T |
1: 59,105,394 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,353 (GRCm39) |
E110G |
probably damaging |
Het |
| Ccne2 |
T |
C |
4: 11,203,039 (GRCm39) |
C386R |
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,502,482 (GRCm39) |
V143I |
probably benign |
Het |
| Cyp11a1 |
A |
T |
9: 57,926,605 (GRCm39) |
M47L |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,270,566 (GRCm39) |
L956P |
probably benign |
Het |
| Enkd1 |
A |
T |
8: 106,430,557 (GRCm39) |
V326E |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,403,180 (GRCm39) |
|
probably benign |
Het |
| Etv5 |
T |
C |
16: 22,254,662 (GRCm39) |
D66G |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,228,080 (GRCm39) |
|
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,814,513 (GRCm39) |
K409R |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,900 (GRCm39) |
T1398A |
probably benign |
Het |
| Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
| Gtdc1 |
T |
C |
2: 44,646,319 (GRCm39) |
E44G |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,269 (GRCm39) |
Y2286F |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,840,860 (GRCm39) |
|
probably null |
Het |
| Ifna5 |
A |
G |
4: 88,754,171 (GRCm39) |
E137G |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,614,541 (GRCm39) |
E468K |
possibly damaging |
Het |
| Kat6a |
A |
T |
8: 23,352,804 (GRCm39) |
H196L |
probably damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Klhl29 |
C |
T |
12: 5,140,603 (GRCm39) |
V680I |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,060,089 (GRCm39) |
I72T |
probably benign |
Het |
| Mbd6 |
C |
T |
10: 127,119,760 (GRCm39) |
|
probably benign |
Het |
| Mindy3 |
T |
A |
2: 12,360,165 (GRCm39) |
M6L |
probably damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,073 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,020,802 (GRCm39) |
T430S |
probably benign |
Het |
| Or4ac1-ps1 |
T |
G |
2: 88,370,630 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Prkce |
A |
T |
17: 86,476,051 (GRCm39) |
K11* |
probably null |
Het |
| Pros1 |
T |
C |
16: 62,720,692 (GRCm39) |
I117T |
possibly damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,656 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
C |
8: 61,825,756 (GRCm39) |
S584P |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,414,225 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
T |
6: 83,534,448 (GRCm39) |
E280K |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,730,781 (GRCm39) |
I1329T |
probably damaging |
Het |
| Tex2 |
G |
A |
11: 106,420,156 (GRCm39) |
T869I |
unknown |
Het |
| Tlk2 |
A |
G |
11: 105,138,390 (GRCm39) |
T281A |
probably benign |
Het |
| Tpm1 |
G |
A |
9: 66,939,227 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,260,396 (GRCm39) |
F702L |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn2r20 |
T |
A |
6: 123,362,706 (GRCm39) |
T693S |
probably benign |
Het |
| Zfand2b |
A |
G |
1: 75,146,499 (GRCm39) |
K125E |
possibly damaging |
Het |
| Zfp422 |
C |
T |
6: 116,603,340 (GRCm39) |
A220T |
probably benign |
Het |
| Zfp747 |
A |
T |
7: 126,973,762 (GRCm39) |
V136D |
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 |
|
|
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'- TCCAAATCACGGTAACTGCAG -3'
(R):5'- CCCAGAGTTCTGCCTTGTTG -3'
Sequencing Primer
(F):5'- CTGCAGGAAGAAGAATGCCTAGC -3'
(R):5'- CCAGAGTTCTGCCTTGTTGATTGAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation