Incidental Mutation 'R6409:Mefv'
| ID |
514788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mefv
|
| Ensembl Gene |
ENSMUSG00000022534 |
| Gene Name |
Mediterranean fever |
| Synonyms |
FMF, TRIM20, pyrin, marenostrin |
| MMRRC Submission |
044554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 3528657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023180]
[ENSMUST00000023180]
[ENSMUST00000100222]
[ENSMUST00000100222]
[ENSMUST00000229725]
[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 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 null
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 null
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 null
Transcript: ENSMUST00000229725
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229725
|
| Meta Mutation Damage Score |
0.9486 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (32/33) |
| 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 |
|---|
| Aatk |
G |
T |
11: 119,902,558 (GRCm39) |
Q556K |
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,312 (GRCm39) |
V572A |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,986,938 (GRCm39) |
V2741M |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,721,676 (GRCm39) |
V2043A |
probably benign |
Het |
| B3glct |
C |
T |
5: 149,658,916 (GRCm39) |
R239C |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,259,189 (GRCm39) |
V626E |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,863,800 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,803,354 (GRCm39) |
N1563D |
probably benign |
Het |
| Duox2 |
G |
C |
2: 122,115,148 (GRCm39) |
H1110D |
probably damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,168 (GRCm39) |
F648I |
probably damaging |
Het |
| Ms4a4b |
T |
C |
19: 11,438,724 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
T |
C |
5: 148,014,425 (GRCm39) |
V406A |
probably benign |
Het |
| Nup88 |
T |
C |
11: 70,835,798 (GRCm39) |
R554G |
probably null |
Het |
| Or1x2 |
A |
G |
11: 50,918,015 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or4d10 |
C |
T |
19: 12,052,111 (GRCm39) |
|
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,515 (GRCm39) |
Y120* |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,168,270 (GRCm39) |
D246G |
probably damaging |
Het |
| Pmm1 |
T |
C |
15: 81,845,008 (GRCm39) |
T9A |
probably benign |
Het |
| Pramel19 |
C |
T |
4: 101,797,874 (GRCm39) |
Q91* |
probably null |
Het |
| Psg18 |
T |
C |
7: 18,087,446 (GRCm39) |
M71V |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,008,581 (GRCm39) |
H253R |
probably benign |
Het |
| Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
| Rgs18 |
T |
A |
1: 144,650,931 (GRCm39) |
K17* |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sertm1 |
T |
C |
3: 54,806,788 (GRCm39) |
Y79C |
probably benign |
Het |
| Sfrp1 |
T |
C |
8: 23,907,394 (GRCm39) |
I198T |
possibly damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,582,232 (GRCm39) |
I254F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,697,826 (GRCm39) |
D93G |
probably damaging |
Het |
| Smo |
T |
C |
6: 29,736,113 (GRCm39) |
L35S |
unknown |
Het |
| Tbc1d8 |
A |
G |
1: 39,411,669 (GRCm39) |
S1056P |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,841,261 (GRCm39) |
D286G |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,096 (GRCm39) |
Y607H |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,297,189 (GRCm39) |
C564S |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,743,082 (GRCm39) |
H284R |
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,362,585 (GRCm39) |
S79T |
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 |
|
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 |
|
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'- TAAGACGTTCTGGGCTCCTG -3'
(R):5'- AGAAAGCCTGCCTCTCATCC -3'
Sequencing Primer
(F):5'- TCTGGGCTCCTGAGAGATCTC -3'
(R):5'- GGGCATTCCTAGATACATACTTCCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation