Incidental Mutation 'R5954:Mefv'
| ID |
471074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mefv
|
| Ensembl Gene |
ENSMUSG00000022534 |
| Gene Name |
Mediterranean fever |
| Synonyms |
FMF, TRIM20, pyrin, marenostrin |
| MMRRC Submission |
044143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3525082-3535961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3533579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 231
(Y231H)
|
| 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: Y231H
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: Y231H
| 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: Y231H
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: Y231H
| 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: Y231H
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Abca3 |
T |
C |
17: 24,616,390 (GRCm39) |
I944T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,791,510 (GRCm39) |
T823A |
probably benign |
Het |
| Ankrd42 |
C |
G |
7: 92,273,175 (GRCm39) |
|
probably null |
Het |
| Anks4b |
T |
A |
7: 119,781,396 (GRCm39) |
N142K |
possibly damaging |
Het |
| Armc5 |
A |
G |
7: 127,841,444 (GRCm39) |
E484G |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,202,149 (GRCm39) |
F118L |
possibly damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,151 (GRCm39) |
L200F |
possibly damaging |
Het |
| Cacna1h |
A |
G |
17: 25,602,175 (GRCm39) |
F1555S |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
C |
2: 160,807,747 (GRCm39) |
H1822Q |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,138 (GRCm39) |
R16C |
possibly damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,221 (GRCm39) |
D431G |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,148,983 (GRCm39) |
R1487Q |
probably damaging |
Het |
| Farp1 |
T |
A |
14: 121,460,079 (GRCm39) |
V116D |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,617,943 (GRCm39) |
T274S |
probably damaging |
Het |
| Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,748 (GRCm39) |
L257P |
probably damaging |
Het |
| Gm20402 |
C |
T |
3: 52,176,311 (GRCm39) |
P30L |
probably damaging |
Het |
| Gm7932 |
C |
T |
6: 48,839,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,767 (GRCm39) |
D590E |
unknown |
Het |
| Herc1 |
T |
G |
9: 66,358,774 (GRCm39) |
|
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,875 (GRCm39) |
I357F |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,157,396 (GRCm39) |
Y78C |
probably damaging |
Het |
| Itga8 |
C |
A |
2: 12,137,297 (GRCm39) |
A23S |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,724 (GRCm39) |
V451A |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,661,436 (GRCm39) |
|
probably benign |
Het |
| Med23 |
A |
G |
10: 24,746,381 (GRCm39) |
|
probably benign |
Het |
| Or4d10 |
A |
T |
19: 12,051,447 (GRCm39) |
I183N |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Or5p69 |
T |
A |
7: 107,966,808 (GRCm39) |
I37N |
probably damaging |
Het |
| Or8g21 |
A |
G |
9: 38,906,711 (GRCm39) |
S7P |
probably damaging |
Het |
| Pak5 |
G |
T |
2: 135,958,383 (GRCm39) |
T235K |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,701,960 (GRCm39) |
P294Q |
probably benign |
Het |
| Prepl |
A |
G |
17: 85,372,077 (GRCm39) |
F725L |
probably benign |
Het |
| Ptchd3 |
A |
T |
11: 121,727,413 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,672,175 (GRCm39) |
E1076G |
probably damaging |
Het |
| Sarm1 |
C |
A |
11: 78,381,428 (GRCm39) |
E352* |
probably null |
Het |
| Sccpdh |
T |
A |
1: 179,508,153 (GRCm39) |
H14Q |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,990,234 (GRCm39) |
I661V |
probably benign |
Het |
| Septin3 |
T |
C |
15: 82,174,628 (GRCm39) |
F140L |
probably damaging |
Het |
| Spag6 |
G |
T |
2: 18,715,417 (GRCm39) |
Q65H |
probably damaging |
Het |
| Tnni3 |
C |
T |
7: 4,522,539 (GRCm39) |
R137H |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,201 (GRCm39) |
S742G |
probably benign |
Het |
| Ucn3 |
T |
C |
13: 3,991,413 (GRCm39) |
I80V |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,694,622 (GRCm39) |
|
probably benign |
Het |
| Uncx |
C |
T |
5: 139,533,384 (GRCm39) |
S483L |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,155,143 (GRCm39) |
V550A |
probably damaging |
Het |
| Zfp697 |
C |
A |
3: 98,335,909 (GRCm39) |
T558K |
probably damaging |
Het |
| Zfp790 |
G |
T |
7: 29,528,929 (GRCm39) |
G538V |
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 |
|
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'- CCCCAATCAACGATGTTTTGG -3'
(R):5'- AGCACAGCGCCTCTCTATAG -3'
Sequencing Primer
(F):5'- ATGGAATGCTCTGGAATCCC -3'
(R):5'- TCTCTATAGGAGAACCCAGGGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation