Mutagenetix > Incidental Mutations

Incidental Mutation 'R6260:Mefv'

506652

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

TRIM20, marenostrin, pyrin, FMF

MMRRC Submission

044377-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3707218-3718097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3713034 bp

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]

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: 80,008,987	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,934,219	G650*	probably null	Het
Acsbg1	T	A	9: 54,628,467		probably null	Het
Alms1	A	T	6: 85,628,735	K2456*	probably null	Het
Alppl2	A	T	1: 87,088,462	M225K	probably damaging	Het
Ank2	C	T	3: 126,943,557	V2806I	probably benign	Het
Atxn10	A	T	15: 85,462,411	I457F	probably benign	Het
Cad	G	T	5: 31,066,800	M800I	probably null	Het
Carmil3	T	A	14: 55,500,432	L815Q	probably damaging	Het
Ccz1	A	G	5: 144,004,041		probably null	Het
Cdc73	G	A	1: 143,691,473	T104I	probably benign	Het
Cfap52	A	T	11: 67,938,954	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,694,848		probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Crocc2	A	G	1: 93,213,638	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,834,361	V86A	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddhd2	A	G	8: 25,752,117	F244L	probably benign	Het
Ddn	A	G	15: 98,805,854	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,162,702	V253L	probably benign	Het
Dnah17	C	A	11: 118,126,322	W197C	probably damaging	Het
Dnah17	C	T	11: 118,126,323	W197*	probably null	Het
Dnah17	A	T	11: 118,126,324	W197R	probably damaging	Het
Ercc6	T	A	14: 32,557,856	D609E	probably benign	Het
Erg	C	A	16: 95,380,241	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,478,555	L549H	probably damaging	Het
Foxd4	A	G	19: 24,899,604	S411P	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Galntl6	T	A	8: 57,884,481	D135V	probably damaging	Het
Gm1043	G	C	5: 37,174,472	G832A	probably benign	Het
Gm14085	A	T	2: 122,523,482	I530F	probably damaging	Het
Gm21103	C	T	14: 6,303,847	E68K	probably damaging	Het
Gm340	A	T	19: 41,582,370	S1C	probably null	Het
Gm340	G	T	19: 41,582,371	S1I	possibly damaging	Het
Gpam	A	G	19: 55,083,406	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,324,102	I304F	unknown	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jak3	C	A	8: 71,679,310	Q177K	probably benign	Het
Kcnu1	G	A	8: 25,851,891	R88H	probably damaging	Het
Kng1	A	T	16: 23,058,621	I60F	possibly damaging	Het
Krt77	A	T	15: 101,864,372	Y257*	probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map4k5	C	A	12: 69,831,562	R355L	probably benign	Het
Mical3	A	T	6: 121,009,030	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,343,541	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,420,517	C126*	probably null	Het
Nisch	T	A	14: 31,177,128		probably benign	Het
Nt5dc3	A	G	10: 86,811,531	Y130C	probably damaging	Het
Olfr1309	C	T	2: 111,984,051	V8I	probably benign	Het
Olfr694	A	T	7: 106,688,872	N286K	probably damaging	Het
Olfr808	C	A	10: 129,767,520	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,436,839	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,857,487	S504P	probably benign	Het
Plin2	G	T	4: 86,657,289	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,165,291	I575N	probably benign	Het
Pnmal2	T	G	7: 16,946,233	W381G	probably benign	Het
Psma8	A	G	18: 14,721,267	D68G	probably damaging	Het
Rcor3	G	A	1: 192,124,259	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,434,468	G266V	probably damaging	Het
Ryr3	A	G	2: 112,660,104	F3795S	probably damaging	Het
Sord	T	A	2: 122,259,132		probably null	Het
Spdl1	T	A	11: 34,819,886	N345I	probably damaging	Het
St8sia2	T	A	7: 73,976,693	R42S	possibly damaging	Het
Syt9	G	T	7: 107,436,510	V245F	possibly damaging	Het
Tbpl2	T	A	2: 24,094,886	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,553,465	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,667,918	T492A	probably benign	Het
Timm13	A	C	10: 80,900,301		probably benign	Het
Trdmt1	T	A	2: 13,520,059	Q195L	probably benign	Het
Ttc27	T	A	17: 74,858,091	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,216,647	S245*	probably null	Het
Ttc41	A	G	10: 86,731,159	E563G	probably benign	Het
Ttc41	A	T	10: 86,733,707	T650S	probably benign	Het
U2surp	A	C	9: 95,476,157	L723R	probably damaging	Het
Ubqln3	G	A	7: 104,142,317	Q189*	probably null	Het
Vezf1	A	G	11: 88,081,500	N229S	probably damaging	Het
Vmn2r79	T	A	7: 87,037,157	M582K	probably benign	Het
Zfp518a	A	G	19: 40,914,123	D832G	probably benign	Het
Zfyve28	T	C	5: 34,198,872	N762D	probably damaging	Het

Other mutations in Mefv

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00537:Mefv	APN	16	3710960	missense	probably benign	0.01
IGL00583:Mefv	APN	16	3716072	nonsense	probably null
IGL00963:Mefv	APN	16	3715720	missense	possibly damaging	0.83
IGL02185:Mefv	APN	16	3715850	missense	probably benign	0.09
IGL02500:Mefv	APN	16	3713577	missense	probably damaging	1.00
R0158:Mefv	UTSW	16	3715456	missense	possibly damaging	0.67
R1312:Mefv	UTSW	16	3708534	splice site	probably benign
R1793:Mefv	UTSW	16	3708664	missense	possibly damaging	0.53
R1956:Mefv	UTSW	16	3717827	missense	probably damaging	1.00
R2169:Mefv	UTSW	16	3710888	missense	probably benign	0.24
R2973:Mefv	UTSW	16	3715694	nonsense	probably null
R3723:Mefv	UTSW	16	3708194	critical splice donor site	probably null
R3724:Mefv	UTSW	16	3708194	critical splice donor site	probably null
R3953:Mefv	UTSW	16	3715400	missense	possibly damaging	0.60
R4276:Mefv	UTSW	16	3715569	missense	probably benign	0.41
R4650:Mefv	UTSW	16	3717818	missense	probably damaging	1.00
R4651:Mefv	UTSW	16	3717818	missense	probably damaging	1.00
R4652:Mefv	UTSW	16	3717818	missense	probably damaging	1.00
R4670:Mefv	UTSW	16	3708207	missense	possibly damaging	0.67
R4781:Mefv	UTSW	16	3715334	missense	probably benign	0.00
R5593:Mefv	UTSW	16	3715451	missense	probably benign	0.00
R5834:Mefv	UTSW	16	3716046	missense	probably damaging	0.97
R5867:Mefv	UTSW	16	3715933	missense	probably damaging	1.00
R5954:Mefv	UTSW	16	3715715	missense	probably benign	0.09
R6056:Mefv	UTSW	16	3708042	missense	possibly damaging	0.73
R6409:Mefv	UTSW	16	3710793	critical splice donor site	probably null
R6511:Mefv	UTSW	16	3715946	missense	probably benign	0.00
R6666:Mefv	UTSW	16	3707998	missense	possibly damaging	0.88
R6952:Mefv	UTSW	16	3710880	missense	probably damaging	1.00
R7259:Mefv	UTSW	16	3713053	missense	probably damaging	1.00
R7410:Mefv	UTSW	16	3715681	missense	probably damaging	1.00
R7444:Mefv	UTSW	16	3715522	missense	probably benign	0.21
R8140:Mefv	UTSW	16	3713635	missense	probably benign	0.00
R8183:Mefv	UTSW	16	3708582	missense	possibly damaging	0.70
R8279:Mefv	UTSW	16	3715222	missense	unknown
X0064:Mefv	UTSW	16	3710841	missense	possibly damaging	0.71
Z1176:Mefv	UTSW	16	3715455	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