Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Mefv'

632500

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

TRIM20, marenostrin, pyrin, FMF

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3707218-3718097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3713635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 470 (S470P)

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: S440P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: S440P

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: S470P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: S470P

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: S440P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly 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
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
R8183:Mefv	UTSW	16	3708582	missense	possibly damaging	0.70
R8279:Mefv	UTSW	16	3715222	missense	unknown
R8841:Mefv	UTSW	16	3710978	missense	probably benign	0.02
R8899:Mefv	UTSW	16	3710900	missense	probably damaging	1.00
R9091:Mefv	UTSW	16	3717977	missense	probably damaging	1.00
R9270:Mefv	UTSW	16	3717977	missense	probably damaging	1.00
R9310:Mefv	UTSW	16	3715388	missense	probably benign	0.00
R9355:Mefv	UTSW	16	3708018	missense	probably damaging	1.00
R9645:Mefv	UTSW	16	3710918	missense	probably damaging	1.00
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'- CAAGGCCAATTCCCAGAGAG -3'
(R):5'- TGTCTCCAGGAAGGTCACAG -3'

Sequencing Primer
(F):5'- GCCAATTCCCAGAGAGAGATG -3'
(R):5'- TCACAGGACAAGGCTGTGTG -3'

Posted On

2020-06-30