Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Mefv'

217846

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

FMF, TRIM20, pyrin, marenostrin

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1956 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3525082-3535961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3535691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 79 (Q79R)

Ref Sequence

ENSEMBL: ENSMUSP00000154892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023180] [ENSMUST00000100222] [ENSMUST00000229725]

AlphaFold

Q9JJ26

Predicted Effect

probably damaging
Transcript: ENSMUST00000023180
AA Change: Q79R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: Q79R

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: Q79R

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: Q79R

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 damaging
Transcript: ENSMUST00000229725
AA Change: Q79R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	A	T	15: 51,908,316 (GRCm39)	D157V	probably damaging	Het
Abcg5	A	G	17: 84,977,803 (GRCm39)	V151A	probably damaging	Het
Acss3	A	G	10: 106,772,029 (GRCm39)	V682A	probably benign	Het
Adamts9	A	T	6: 92,836,830 (GRCm39)	C641S	probably damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Ankrd27	T	A	7: 35,303,264 (GRCm39)	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,855,266 (GRCm39)	L182Q	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,391,547 (GRCm39)	K240R	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
Atp13a2	A	G	4: 140,731,572 (GRCm39)	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,685 (GRCm39)	M1160K	probably damaging	Het
Cdk12	A	G	11: 98,110,042 (GRCm39)	T688A	probably benign	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Crabp2	T	C	3: 87,856,193 (GRCm39)	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279 (GRCm39)		probably null	Het
Crk	T	C	11: 75,583,496 (GRCm39)	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,908,204 (GRCm39)	I215T	probably benign	Het
D130043K22Rik	A	G	13: 25,069,578 (GRCm39)	Y879C	probably damaging	Het
Depdc5	T	C	5: 33,061,175 (GRCm39)	V334A	probably damaging	Het
Dgkh	T	C	14: 78,855,981 (GRCm39)	N231S	probably damaging	Het
Disp2	T	A	2: 118,622,704 (GRCm39)	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553 (GRCm39)	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,040,132 (GRCm39)	R498H	probably damaging	Het
F10	T	C	8: 13,105,422 (GRCm39)	I329T	probably damaging	Het
Fam13b	G	T	18: 34,578,382 (GRCm39)	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,242,518 (GRCm39)	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502 (GRCm39)	M528K	probably damaging	Het
Gcc2	A	G	10: 58,121,965 (GRCm39)	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Ggn	T	A	7: 28,871,341 (GRCm39)	S240R	probably damaging	Het
Git2	C	T	5: 114,887,398 (GRCm39)	W299*	probably null	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5134	T	C	10: 75,840,680 (GRCm39)	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,145,490 (GRCm39)	V114L	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,992,202 (GRCm39)		probably null	Het
Hnrnpk	A	T	13: 58,544,000 (GRCm39)		probably null	Het
Ifna4	A	T	4: 88,760,311 (GRCm39)	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,757,471 (GRCm39)		probably benign	Het
Lrrc69	A	G	4: 14,665,986 (GRCm39)	V324A	possibly damaging	Het
Mettl17	T	C	14: 52,126,254 (GRCm39)	S168P	probably damaging	Het
Mpp4	A	T	1: 59,197,811 (GRCm39)	S23T	probably benign	Het
Nabp1	A	T	1: 51,517,004 (GRCm39)	V24D	probably damaging	Het
Nod2	T	A	8: 89,390,836 (GRCm39)	F359Y	probably damaging	Het
Or10g1b	C	T	14: 52,628,037 (GRCm39)	M64I	probably benign	Het
Or1p1c	A	T	11: 74,160,670 (GRCm39)	T152S	probably damaging	Het
Or51b17	T	G	7: 103,542,925 (GRCm39)	S6R	probably benign	Het
Or52d3	C	A	7: 104,229,116 (GRCm39)	L88M	probably damaging	Het
Or5ak4	T	C	2: 85,161,444 (GRCm39)	D266G	probably benign	Het
Or5b107	T	C	19: 13,142,560 (GRCm39)	Y61H	probably damaging	Het
Or6a2	C	T	7: 106,600,342 (GRCm39)	A242T	probably damaging	Het
Or7a39	A	G	10: 78,715,267 (GRCm39)	Q87R	probably benign	Het
Pcdh18	T	C	3: 49,710,400 (GRCm39)	H305R	probably benign	Het
Phf1	T	A	17: 27,154,719 (GRCm39)		probably null	Het
Pold3	T	C	7: 99,737,318 (GRCm39)	K379R	probably benign	Het
Polr1f	T	A	12: 33,487,817 (GRCm39)	V244D	probably benign	Het
Pou2f3	T	A	9: 43,056,534 (GRCm39)	T108S	probably benign	Het
Prdm5	C	A	6: 65,913,060 (GRCm39)	T203K	probably damaging	Het
Psma5	A	G	3: 108,173,760 (GRCm39)	S79G	probably benign	Het
Psme4	T	A	11: 30,782,424 (GRCm39)	S889T	probably damaging	Het
Ptk2	A	T	15: 73,087,832 (GRCm39)	V902D	possibly damaging	Het
Rad54l	T	A	4: 115,967,554 (GRCm39)	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,302,679 (GRCm39)	F95L	probably benign	Het
Rassf6	G	A	5: 90,763,730 (GRCm39)	Q71*	probably null	Het
Ryr2	A	T	13: 11,695,966 (GRCm39)	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,346,479 (GRCm39)	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,080,336 (GRCm39)	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,002,048 (GRCm39)	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Spata31g1	A	T	4: 42,970,105 (GRCm39)		probably null	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Tbata	G	A	10: 61,019,256 (GRCm39)	D271N	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tektl1	A	G	10: 78,586,373 (GRCm39)		probably null	Het
Thra	T	A	11: 98,654,567 (GRCm39)	D312E	probably benign	Het
Tlr1	T	A	5: 65,082,520 (GRCm39)	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,631,706 (GRCm39)	F115L	probably benign	Het
Tmem94	A	G	11: 115,679,500 (GRCm39)	D259G	possibly damaging	Het
Trim69	G	A	2: 122,004,956 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,795,159 (GRCm39)	Q243L	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,262,313 (GRCm39)	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,030,846 (GRCm39)	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,553 (GRCm39)	I2686F	probably damaging	Het
Vps8	C	T	16: 21,279,892 (GRCm39)	T281M	probably damaging	Het
Wdfy3	A	G	5: 102,067,275 (GRCm39)	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,621,638 (GRCm39)	C340R	probably damaging	Het
Zfhx3	T	C	8: 109,520,774 (GRCm39)	V632A	probably benign	Het
Zfp1006	A	T	8: 129,948,309 (GRCm39)	D41E	possibly damaging	Het
Zfp341	A	T	2: 154,480,132 (GRCm39)	T528S	probably benign	Het
Zfp990	G	A	4: 145,261,452 (GRCm39)	A33T	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zyx	A	T	6: 42,328,289 (GRCm39)	K166I	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
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

Predicted Primers

PCR Primer
(F):5'- CACTAAACAGGTTACAAGGGCC -3'
(R):5'- TGCTGCCCTATGACTTTGAG -3'

Sequencing Primer
(F):5'- GGATGAGGCATGCTAGATTCACAC -3'
(R):5'- GCCCTATGACTTTGAGAAGTTCAAG -3'

Posted On

2014-08-01