Incidental Mutation 'R4781:Mefv'
ID |
366534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mefv
|
Ensembl Gene |
ENSMUSG00000022534 |
Gene Name |
Mediterranean fever |
Synonyms |
FMF, TRIM20, pyrin, marenostrin |
MMRRC Submission |
042415-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R4781 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 3533198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 358
(P358S)
|
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: P358S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023180 Gene: ENSMUSG00000022534 AA Change: P358S
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: P358S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000097795 Gene: ENSMUSG00000022534 AA Change: P358S
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: P358S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (74/74) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
T |
A |
7: 27,271,076 (GRCm39) |
I157N |
probably damaging |
Het |
Adgrl3 |
T |
C |
5: 81,908,571 (GRCm39) |
Y1165H |
probably damaging |
Het |
Adra2a |
A |
G |
19: 54,034,926 (GRCm39) |
D94G |
probably damaging |
Het |
Akr1c20 |
T |
A |
13: 4,558,174 (GRCm39) |
K197* |
probably null |
Het |
Ankrd65 |
C |
T |
4: 155,877,493 (GRCm39) |
H335Y |
possibly damaging |
Het |
Axin2 |
T |
A |
11: 108,834,682 (GRCm39) |
L636Q |
probably damaging |
Het |
Camk1g |
G |
T |
1: 193,038,652 (GRCm39) |
T90N |
probably benign |
Het |
Cd177 |
C |
A |
7: 24,450,051 (GRCm39) |
C528F |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,339,931 (GRCm39) |
D730V |
possibly damaging |
Het |
Crtap |
T |
C |
9: 114,215,304 (GRCm39) |
D195G |
probably benign |
Het |
Csn1s2b |
A |
G |
5: 87,966,952 (GRCm39) |
S74G |
possibly damaging |
Het |
Cyp3a16 |
T |
C |
5: 145,392,922 (GRCm39) |
R128G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,464,367 (GRCm39) |
F3675L |
probably benign |
Het |
Dram2 |
T |
A |
3: 106,478,992 (GRCm39) |
W195R |
probably damaging |
Het |
E130308A19Rik |
C |
T |
4: 59,691,057 (GRCm39) |
P297L |
probably benign |
Het |
Eif3i |
T |
C |
4: 129,489,066 (GRCm39) |
S83G |
probably benign |
Het |
Gabra1 |
G |
A |
11: 42,024,488 (GRCm39) |
P396S |
probably damaging |
Het |
Gipr |
T |
A |
7: 18,891,300 (GRCm39) |
Y459F |
possibly damaging |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Gm6981 |
T |
C |
9: 51,914,056 (GRCm39) |
|
noncoding transcript |
Het |
Grin2d |
T |
C |
7: 45,511,905 (GRCm39) |
D180G |
probably damaging |
Het |
Hectd4 |
T |
G |
5: 121,444,170 (GRCm39) |
|
probably null |
Het |
Hhat |
T |
C |
1: 192,369,287 (GRCm39) |
|
probably benign |
Het |
Hoxa6 |
A |
G |
6: 52,183,400 (GRCm39) |
L215P |
possibly damaging |
Het |
Hsf4 |
G |
A |
8: 106,001,384 (GRCm39) |
|
probably null |
Het |
Igf1r |
G |
A |
7: 67,814,947 (GRCm39) |
A283T |
possibly damaging |
Het |
Ighv15-2 |
A |
G |
12: 114,528,476 (GRCm39) |
S25P |
probably damaging |
Het |
Inpp5a |
C |
T |
7: 139,057,921 (GRCm39) |
T43I |
probably benign |
Het |
Kmt2c |
T |
A |
5: 25,648,823 (GRCm39) |
E82V |
probably damaging |
Het |
Lrrc31 |
A |
G |
3: 30,741,526 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,844,396 (GRCm39) |
|
probably null |
Het |
Mrgpra9 |
A |
G |
7: 46,884,795 (GRCm39) |
F291L |
possibly damaging |
Het |
Mtmr3 |
A |
G |
11: 4,438,435 (GRCm39) |
L673P |
probably benign |
Het |
Muc19 |
T |
C |
15: 91,787,360 (GRCm39) |
|
noncoding transcript |
Het |
Myo5b |
A |
T |
18: 74,877,752 (GRCm39) |
T1584S |
possibly damaging |
Het |
Or1x6 |
A |
T |
11: 50,939,307 (GRCm39) |
R124S |
probably damaging |
Het |
Or4z4 |
T |
C |
19: 12,076,731 (GRCm39) |
T91A |
probably benign |
Het |
Palld |
G |
T |
8: 62,330,062 (GRCm39) |
R272S |
probably benign |
Het |
Pcnx3 |
T |
A |
19: 5,737,158 (GRCm39) |
N144Y |
probably damaging |
Het |
Prf1 |
A |
G |
10: 61,136,203 (GRCm39) |
K160E |
probably damaging |
Het |
Rasgrp1 |
G |
A |
2: 117,122,190 (GRCm39) |
A400V |
probably benign |
Het |
Rnf150 |
A |
G |
8: 83,590,781 (GRCm39) |
Y48C |
probably damaging |
Het |
Rpl11 |
G |
T |
4: 135,777,599 (GRCm39) |
Q170K |
probably benign |
Het |
Scin |
G |
A |
12: 40,131,763 (GRCm39) |
A257V |
possibly damaging |
Het |
Scn7a |
C |
A |
2: 66,534,104 (GRCm39) |
A524S |
possibly damaging |
Het |
Sim1 |
T |
C |
10: 50,859,881 (GRCm39) |
L581S |
probably benign |
Het |
Skor1 |
T |
C |
9: 63,051,741 (GRCm39) |
T715A |
probably benign |
Het |
Slc22a26 |
A |
G |
19: 7,767,500 (GRCm39) |
V301A |
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,171,119 (GRCm39) |
Y923C |
probably damaging |
Het |
Src |
T |
A |
2: 157,309,405 (GRCm39) |
M304K |
possibly damaging |
Het |
Srgap3 |
A |
T |
6: 112,734,386 (GRCm39) |
|
probably benign |
Het |
Stard3 |
G |
A |
11: 98,263,160 (GRCm39) |
E72K |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,070,340 (GRCm39) |
N2482I |
probably damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,038,778 (GRCm39) |
K20R |
possibly damaging |
Het |
Tcstv4 |
A |
C |
13: 120,769,698 (GRCm39) |
K6T |
possibly damaging |
Het |
Tfip11 |
G |
A |
5: 112,481,265 (GRCm39) |
E414K |
probably damaging |
Het |
Tinag |
G |
T |
9: 76,904,232 (GRCm39) |
T397K |
possibly damaging |
Het |
Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
Trmt10b |
T |
A |
4: 45,305,817 (GRCm39) |
I164N |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
Ube2u |
A |
T |
4: 100,343,855 (GRCm39) |
T85S |
probably benign |
Het |
Ulk4 |
T |
C |
9: 120,932,642 (GRCm39) |
D1066G |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,387,069 (GRCm39) |
I832F |
probably benign |
Het |
Yipf1 |
A |
C |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
Zfp40 |
T |
A |
17: 23,394,629 (GRCm39) |
R653W |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,349,535 (GRCm39) |
T308A |
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 |
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'- ACACAAGAACATCTGAGGGC -3'
(R):5'- ACTCTGAATGGAAGGACTACGG -3'
Sequencing Primer
(F):5'- ACATCTGAGGGCTTAAGCAC -3'
(R):5'- CAGGGATTCCAGAGCATTCCATG -3'
|
Posted On |
2015-12-29 |