Mutagenetix > Incidental Mutation

Incidental Mutation 'R6260:Mefv'

506652

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

FMF, TRIM20, pyrin, marenostrin

MMRRC Submission

044377-MU

Accession Numbers

Essential gene?

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

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3525082-3535961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3530898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 498 (R498H)

Ref Sequence

ENSEMBL: ENSMUSP00000154892 (fasta)

Gene Model

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

AlphaFold

Q9JJ26

Predicted Effect

probably benign
Transcript: ENSMUST00000023180
AA Change: R498H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: R498H

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: R528H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: R528H

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: R498H

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,844,821 (GRCm39)	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,984,219 (GRCm39)	G650*	probably null	Het
Acsbg1	T	A	9: 54,535,751 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
Ank2	C	T	3: 126,737,206 (GRCm39)	V2806I	probably benign	Het
Atxn10	A	T	15: 85,346,612 (GRCm39)	I457F	probably benign	Het
Cad	G	T	5: 31,224,144 (GRCm39)	M800I	probably null	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Ccz1	A	G	5: 143,940,859 (GRCm39)		probably null	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Cfap52	A	T	11: 67,829,780 (GRCm39)	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,512,712 (GRCm39)		probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddhd2	A	G	8: 26,242,144 (GRCm39)	F244L	probably benign	Het
Ddn	A	G	15: 98,703,735 (GRCm39)	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,060,583 (GRCm39)	V253L	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Foxd4	A	G	19: 24,876,968 (GRCm39)	S411P	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Galntl6	T	A	8: 58,337,515 (GRCm39)	D135V	probably damaging	Het
Gm1043	G	C	5: 37,331,816 (GRCm39)	G832A	probably benign	Het
Gm21103	C	T	14: 17,484,841 (GRCm39)	E68K	probably damaging	Het
Gpam	A	G	19: 55,071,838 (GRCm39)	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jak3	C	A	8: 72,131,954 (GRCm39)	Q177K	probably benign	Het
Kcnu1	G	A	8: 26,341,919 (GRCm39)	R88H	probably damaging	Het
Kng1	A	T	16: 22,877,371 (GRCm39)	I60F	possibly damaging	Het
Krt77	A	T	15: 101,772,807 (GRCm39)	Y257*	probably null	Het
Lcor	A	T	19: 41,570,809 (GRCm39)	S1C	probably null	Het
Lcor	G	T	19: 41,570,810 (GRCm39)	S1I	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,650,536 (GRCm39)	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,256,351 (GRCm39)	C126*	probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or2ag1b	A	T	7: 106,288,079 (GRCm39)	N286K	probably damaging	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or6c65	C	A	10: 129,603,389 (GRCm39)	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,049,494 (GRCm39)	I575N	probably benign	Het
Pnma8b	T	G	7: 16,680,158 (GRCm39)	W381G	probably benign	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,231,356 (GRCm39)	G266V	probably damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
St8sia2	T	A	7: 73,626,441 (GRCm39)	R42S	possibly damaging	Het
Syt9	G	T	7: 107,035,717 (GRCm39)	V245F	possibly damaging	Het
Tbpl2	T	A	2: 23,984,898 (GRCm39)	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Timm13	A	C	10: 80,736,135 (GRCm39)		probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ttc27	T	A	17: 75,165,086 (GRCm39)	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,524,076 (GRCm39)	S245*	probably null	Het
Ttc41	A	G	10: 86,567,023 (GRCm39)	E563G	probably benign	Het
Ttc41	A	T	10: 86,569,571 (GRCm39)	T650S	probably benign	Het
U2surp	A	C	9: 95,358,210 (GRCm39)	L723R	probably damaging	Het
Ubqln3	G	A	7: 103,791,524 (GRCm39)	Q189*	probably null	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Vmn2r79	T	A	7: 86,686,365 (GRCm39)	M582K	probably benign	Het
Zfp518a	A	G	19: 40,902,567 (GRCm39)	D832G	probably benign	Het
Zfyve28	T	C	5: 34,356,216 (GRCm39)	N762D	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
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'- TCTCTGCTGCCCTGTGAATG -3'
(R):5'- AGGTGAGGTAATCCGTTGCC -3'

Sequencing Primer
(F):5'- CCTGTGAATGGGAGCAGACC -3'
(R):5'- AGGATTCCTGGGCTCCAAATG -3'

Posted On

2018-03-15