Mutagenetix > Incidental Mutations

Incidental Mutation 'R2169:Mefv'

235687

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

TRIM20, marenostrin, pyrin, FMF

MMRRC Submission

040172-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R2169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3707218-3718097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3710888 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 593 (V593A)

Ref Sequence

ENSEMBL: ENSMUSP00000097795 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023180
AA Change: V563A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: V563A

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: V593A

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: V593A

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: V563A

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,485,813	T606A	probably benign	Het
Adtrp	T	A	13: 41,767,429	S221C	possibly damaging	Het
Ap1g2	T	A	14: 55,099,340		probably null	Het
Arhgef5	A	T	6: 43,274,420	M702L	probably benign	Het
Axdnd1	A	G	1: 156,418,309	V34A	probably damaging	Het
Ccdc154	T	A	17: 25,170,923	V509E	probably damaging	Het
Cttnbp2	C	T	6: 18,426,097	D761N	probably benign	Het
Ddx18	A	T	1: 121,558,409		probably null	Het
Fam241b	A	T	10: 62,109,966	I4N	probably damaging	Het
Fam69a	A	T	5: 107,909,459	L411*	probably null	Het
Gm5800	T	C	14: 51,713,678	K155E	possibly damaging	Het
Hemgn	T	A	4: 46,396,417	H273L	possibly damaging	Het
Hsp90aa1	A	G	12: 110,692,734	V543A	probably damaging	Het
Hspa1l	A	G	17: 34,977,323	K113E	probably benign	Het
Hspb2	A	G	9: 50,751,715	I38T	probably damaging	Het
Htt	A	T	5: 34,877,475	E2021D	probably benign	Het
Lrpprc	C	T	17: 84,770,077	R394Q	probably benign	Het
Lrrc8b	T	C	5: 105,481,887	Y700H	probably damaging	Het
Mrgprh	C	T	17: 12,876,969	T32M	probably benign	Het
Mrpl18	A	G	17: 12,913,768		probably null	Het
Muc1	A	G	3: 89,231,596	E504G	probably damaging	Het
Ndufa13	G	A	8: 69,894,519	A77V	probably damaging	Het
Olfr952	A	G	9: 39,426,358	F238L	possibly damaging	Het
Pgbd5	T	A	8: 124,384,624		probably null	Het
Pgm5	T	A	19: 24,834,815	I118F	probably damaging	Het
Phyhip	T	C	14: 70,467,132	F264L	possibly damaging	Het
Polr3e	C	T	7: 120,932,137	R176W	probably damaging	Het
Prkacb	C	T	3: 146,746,683		probably null	Het
Rab19	T	G	6: 39,384,041	V41G	possibly damaging	Het
Rapgef5	A	G	12: 117,715,395	Y234C	probably benign	Het
Slc26a5	T	C	5: 21,813,865	T659A	probably damaging	Het
Slc6a2	G	A	8: 92,994,101	V449I	probably benign	Het
Stab2	A	G	10: 86,887,862	S1490P	probably damaging	Het
Tln1	T	C	4: 43,548,005	T713A	probably damaging	Het
Tmc6	A	T	11: 117,769,106	L732Q	probably damaging	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn1r203	A	T	13: 22,524,735	K229*	probably null	Het
Xylt1	G	A	7: 117,667,437	G893R	probably damaging	Het
Ythdf1	A	T	2: 180,912,114	S69T	probably damaging	Het
Zfp114	C	T	7: 24,181,084	T285I	probably benign	Het
Zfp458	T	C	13: 67,257,049	E439G	probably damaging	Het
Zfp65	G	A	13: 67,710,380	T55I	probably damaging	Het
Zmym1	C	T	4: 127,054,203		probably null	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
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
R6260:Mefv	UTSW	16	3713034	missense	probably benign	0.03
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
X0064:Mefv	UTSW	16	3710841	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TTAATGGCCATGCTTCCTGGC -3'
(R):5'- ATGATCTTGGAGGGCATTCC -3'

Sequencing Primer
(F):5'- CCATGCTTCCTGGCTTGGG -3'
(R):5'- GGGCATTCCTAGATACATACTTCCAG -3'

Posted On

2014-10-01