Incidental Mutation 'IGL00963:Mefv'
| ID |
29184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mefv
|
| Ensembl Gene |
ENSMUSG00000022534 |
| Gene Name |
Mediterranean fever |
| Synonyms |
FMF, TRIM20, pyrin, marenostrin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL00963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3533584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 229
(Y229F)
|
| 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: Y229F
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: Y229F
| 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: Y229F
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: Y229F
| 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: Y229F
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI606181 |
A |
C |
19: 41,582,228 (GRCm39) |
|
probably benign |
Het |
| Alyref2 |
C |
T |
1: 171,331,816 (GRCm39) |
Q198* |
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,939,863 (GRCm39) |
S497P |
probably damaging |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,674,476 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,781,728 (GRCm39) |
D730E |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,296,035 (GRCm39) |
Q1197R |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,926,083 (GRCm39) |
I1224N |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,245,043 (GRCm39) |
K42R |
probably null |
Het |
| Engase |
A |
G |
11: 118,373,824 (GRCm39) |
D322G |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,386,262 (GRCm39) |
D829G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,830,491 (GRCm39) |
M47I |
probably damaging |
Het |
| Gad1-ps |
G |
T |
10: 99,281,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gatb |
A |
G |
3: 85,526,255 (GRCm39) |
S378G |
probably benign |
Het |
| Hivep2 |
G |
A |
10: 14,005,091 (GRCm39) |
S563N |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,055,867 (GRCm39) |
A855V |
probably benign |
Het |
| Jagn1 |
T |
C |
6: 113,424,436 (GRCm39) |
S103P |
probably damaging |
Het |
| Kdm6a |
T |
A |
X: 18,112,665 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,306,895 (GRCm39) |
C356R |
probably damaging |
Het |
| Myef2 |
T |
C |
2: 124,957,395 (GRCm39) |
Y120C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,807,655 (GRCm39) |
I2074S |
probably damaging |
Het |
| Nhs |
A |
G |
X: 160,630,045 (GRCm39) |
S337P |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,622,318 (GRCm39) |
H566Q |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,728,272 (GRCm39) |
C109* |
probably null |
Het |
| Or52z13 |
T |
A |
7: 103,246,844 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
C |
A |
18: 39,908,390 (GRCm39) |
Q552K |
possibly damaging |
Het |
| Podn |
T |
A |
4: 107,879,371 (GRCm39) |
N104I |
probably damaging |
Het |
| Rit1 |
T |
C |
3: 88,633,738 (GRCm39) |
V94A |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,289 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
A |
T |
11: 87,474,199 (GRCm39) |
K29M |
possibly damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,870 (GRCm39) |
Y283C |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,422,637 (GRCm39) |
W460R |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,072,791 (GRCm39) |
K2173* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,019 (GRCm39) |
N296S |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,307,549 (GRCm39) |
D1073G |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,255 (GRCm39) |
K2399* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,717,627 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
C |
T |
6: 90,315,810 (GRCm39) |
T189I |
probably benign |
Het |
| Usp18 |
C |
T |
6: 121,232,341 (GRCm39) |
Q122* |
probably null |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,786,503 (GRCm39) |
|
probably null |
Het |
| Zfp871 |
A |
T |
17: 32,993,726 (GRCm39) |
V483E |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation