Mutagenetix > Incidental Mutation

Incidental Mutation 'R1793:Mefv'

201986

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

FMF, TRIM20, pyrin, marenostrin

MMRRC Submission

039823-MU

Accession Numbers

Essential gene?

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

Stock #

R1793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3525082-3535961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3526528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 699 (S699P)

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: S699P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: S699P

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: S729P

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: S729P

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

possibly damaging
Transcript: ENSMUST00000229725
AA Change: S699P

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

100% (122/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,144 (GRCm39)	H571Q	probably damaging	Het
Abcf2	T	A	5: 24,773,774 (GRCm39)	M372L	probably benign	Het
Acaca	A	C	11: 84,206,795 (GRCm39)	T1552P	probably damaging	Het
Acaca	A	G	11: 84,229,219 (GRCm39)	D1682G	probably damaging	Het
Acvr1b	T	C	15: 101,091,906 (GRCm39)	V62A	probably benign	Het
Aimp1	C	T	3: 132,379,825 (GRCm39)	V97M	probably benign	Het
Aldh1l1	C	T	6: 90,554,813 (GRCm39)	T557I	possibly damaging	Het
Alpk1	T	C	3: 127,471,447 (GRCm39)	T1012A	probably damaging	Het
Amot	G	A	X: 144,233,585 (GRCm39)		probably benign	Het
Arap1	T	A	7: 101,037,829 (GRCm39)	H477Q	probably benign	Het
Arhgap18	T	A	10: 26,736,732 (GRCm39)		probably benign	Het
Arhgef10l	C	T	4: 140,242,684 (GRCm39)	V862M	probably damaging	Het
Arl4d	A	G	11: 101,557,554 (GRCm39)	I27V	probably benign	Het
Asb18	G	A	1: 89,942,277 (GRCm39)	P8L	probably damaging	Het
Ash1l	A	G	3: 88,977,616 (GRCm39)	H2682R	probably damaging	Het
Aspm	T	A	1: 139,385,079 (GRCm39)	V241E	probably benign	Het
Atf7ip	G	T	6: 136,586,217 (GRCm39)		probably benign	Het
AY358078	T	G	14: 52,042,051 (GRCm39)	M142R	unknown	Het
C3	T	A	17: 57,526,592 (GRCm39)	K796N	possibly damaging	Het
Ceacam16	T	C	7: 19,590,041 (GRCm39)	T301A	probably damaging	Het
Ceacam5	T	G	7: 17,481,320 (GRCm39)	Y356D	probably benign	Het
Cep192	C	T	18: 67,984,838 (GRCm39)	A1616V	possibly damaging	Het
Cfap91	T	A	16: 38,141,781 (GRCm39)	N384Y	possibly damaging	Het
Cherp	A	T	8: 73,216,994 (GRCm39)	H645Q	probably benign	Het
CK137956	T	C	4: 127,845,242 (GRCm39)	D167G	probably benign	Het
Clcn1	T	A	6: 42,275,860 (GRCm39)		probably null	Het
Cntn1	C	T	15: 92,189,552 (GRCm39)	T625I	possibly damaging	Het
Cpn2	T	A	16: 30,078,142 (GRCm39)	N520Y	probably damaging	Het
Crocc	G	A	4: 140,746,620 (GRCm39)	R1762W	probably damaging	Het
Cts3	C	A	13: 61,715,967 (GRCm39)	V100F	probably benign	Het
Ddx56	A	T	11: 6,216,934 (GRCm39)	V87D	probably damaging	Het
Dnah9	C	T	11: 66,010,420 (GRCm39)		probably null	Het
Dock1	T	A	7: 134,700,456 (GRCm39)		probably null	Het
Dst	T	A	1: 34,191,552 (GRCm39)	Y291*	probably null	Het
Eif4g3	T	C	4: 137,898,442 (GRCm39)	I1071T	probably damaging	Het
Fblim1	T	C	4: 141,322,549 (GRCm39)	Q78R	probably damaging	Het
Fcamr	C	T	1: 130,739,284 (GRCm39)	P195S	probably benign	Het
Fcho1	G	A	8: 72,161,666 (GRCm39)	Q835*	probably null	Het
Frem3	A	G	8: 81,339,741 (GRCm39)	N678S	probably benign	Het
Frk	G	A	10: 34,483,878 (GRCm39)	R413H	probably benign	Het
Gm10619	C	A	7: 73,459,758 (GRCm39)		noncoding transcript	Het
Gm12185	G	A	11: 48,806,583 (GRCm39)	R203*	probably null	Het
Gm12886	A	G	4: 121,280,174 (GRCm39)	V34A	probably benign	Het
Gna12	A	T	5: 140,746,707 (GRCm39)	I246N	probably damaging	Het
Gpm6a	T	C	8: 55,507,867 (GRCm39)	M201T	probably benign	Het
Gpsm2	T	G	3: 108,608,225 (GRCm39)	D220A	probably benign	Het
Grip2	C	G	6: 91,760,623 (GRCm39)	V325L	probably benign	Het
Grk5	C	A	19: 61,065,200 (GRCm39)	A288D	probably damaging	Het
Herpud2	G	A	9: 25,021,953 (GRCm39)	A231V	possibly damaging	Het
Hmcn1	T	C	1: 150,624,834 (GRCm39)	S1024G	probably benign	Het
Hp1bp3	A	G	4: 137,957,820 (GRCm39)	D295G	probably damaging	Het
Igsf21	T	C	4: 139,761,703 (GRCm39)	H325R	probably damaging	Het
Ing2	T	A	8: 48,122,364 (GRCm39)	L61F	probably damaging	Het
Jak3	T	C	8: 72,138,590 (GRCm39)		probably benign	Het
Kcnn3	T	A	3: 89,516,712 (GRCm39)	C374S	probably benign	Het
Klk1b22	A	G	7: 43,765,775 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,940,764 (GRCm39)	M630T	possibly damaging	Het
Lhx5	T	A	5: 120,572,725 (GRCm39)	C115S	probably damaging	Het
Lmcd1	C	A	6: 112,305,712 (GRCm39)	T271K	probably benign	Het
Lpar1	G	A	4: 58,486,798 (GRCm39)	R158*	probably null	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Map3k8	G	A	18: 4,332,389 (GRCm39)	Q441*	probably null	Het
Mboat1	T	C	13: 30,403,633 (GRCm39)	V144A	probably damaging	Het
Mcur1	C	T	13: 43,713,491 (GRCm39)	G38S	unknown	Het
Med13	T	A	11: 86,220,177 (GRCm39)	M276L	probably benign	Het
Mfsd4a	C	A	1: 131,987,077 (GRCm39)	A62S	probably damaging	Het
Mmp27	A	G	9: 7,571,459 (GRCm39)	M1V	probably null	Het
Myo1c	C	T	11: 75,548,415 (GRCm39)	T58I	probably damaging	Het
Myom3	A	T	4: 135,538,066 (GRCm39)	D1316V	probably benign	Het
Naa25	T	A	5: 121,555,478 (GRCm39)	C235S	possibly damaging	Het
Naa25	C	A	5: 121,558,656 (GRCm39)	R333S	probably damaging	Het
Nav3	G	A	10: 109,539,233 (GRCm39)	T2056I	probably benign	Het
Nol4	A	G	18: 22,902,878 (GRCm39)	Y378H	probably damaging	Het
Npat	G	A	9: 53,463,589 (GRCm39)	R124Q	probably damaging	Het
Npr3	T	A	15: 11,848,665 (GRCm39)	E434V	probably benign	Het
Nptx2	A	G	5: 144,485,130 (GRCm39)	T208A	probably benign	Het
Obscn	C	T	11: 58,968,606 (GRCm39)	V2798M	probably damaging	Het
Odad4	C	A	11: 100,460,679 (GRCm39)		probably null	Het
Or10j7	A	T	1: 173,011,976 (GRCm39)	H8Q	probably benign	Het
Or52r1	A	G	7: 102,537,250 (GRCm39)	Y37H	probably benign	Het
Or5b122	C	T	19: 13,562,779 (GRCm39)	T37I	probably benign	Het
Padi1	G	A	4: 140,541,967 (GRCm39)	P652S	probably damaging	Het
Pcdh1	G	T	18: 38,331,938 (GRCm39)	P355Q	probably damaging	Het
Pck2	G	A	14: 55,781,422 (GRCm39)	R189H	possibly damaging	Het
Pcsk5	T	A	19: 17,432,114 (GRCm39)	K1500N	possibly damaging	Het
Phc3	A	T	3: 31,002,865 (GRCm39)	S218T	probably damaging	Het
Piezo2	T	A	18: 63,239,355 (GRCm39)	M510L	possibly damaging	Het
Polr1g	T	C	7: 19,091,904 (GRCm39)	T68A	possibly damaging	Het
Ppp1r3a	A	T	6: 14,754,717 (GRCm39)	Y177N	probably damaging	Het
Psme2b	A	T	11: 48,836,361 (GRCm39)	D195E	probably damaging	Het
Ptprr	T	C	10: 116,088,827 (GRCm39)	V463A	probably damaging	Het
Pwwp2b	G	A	7: 138,836,281 (GRCm39)	R574Q	probably damaging	Het
Rap1gds1	T	A	3: 138,756,314 (GRCm39)	T14S	possibly damaging	Het
Rbm11	A	T	16: 75,397,685 (GRCm39)	K205M	probably damaging	Het
Rfx1	T	A	8: 84,793,050 (GRCm39)		probably benign	Het
Rnasel	C	A	1: 153,630,169 (GRCm39)	H228Q	probably damaging	Het
Sap130	T	A	18: 31,831,640 (GRCm39)	I710K	probably benign	Het
Slc27a4	C	A	2: 29,695,733 (GRCm39)	D89E	probably benign	Het
Spata31d1b	T	C	13: 59,863,779 (GRCm39)	V309A	probably benign	Het
Syt7	T	G	19: 10,421,354 (GRCm39)	Y420D	probably damaging	Het
Tanc2	A	G	11: 105,515,859 (GRCm39)		probably null	Het
Tbc1d10b	A	G	7: 126,802,930 (GRCm39)	S333P	possibly damaging	Het
Tenm2	G	A	11: 35,914,209 (GRCm39)	P2442S	probably damaging	Het
Tenm3	C	T	8: 49,127,579 (GRCm39)	C33Y	probably damaging	Het
Timmdc1	A	G	16: 38,319,419 (GRCm39)	L245P	possibly damaging	Het
Tlr5	T	C	1: 182,800,012 (GRCm39)	F5L	probably benign	Het
Ttll4	T	A	1: 74,726,999 (GRCm39)	F784L	possibly damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Txndc17	T	A	11: 72,099,571 (GRCm39)	N81K	probably benign	Het
Ubr3	C	T	2: 69,830,895 (GRCm39)		probably benign	Het
Uri1	A	C	7: 37,681,116 (GRCm39)	V96G	probably damaging	Het
Uspl1	T	A	5: 149,150,246 (GRCm39)	I482N	probably damaging	Het
Vmn1r229	A	G	17: 21,034,974 (GRCm39)	N73S	possibly damaging	Het
Vwa7	G	T	17: 35,243,388 (GRCm39)	G689*	probably null	Het
Zfp114	T	A	7: 23,877,164 (GRCm39)		probably null	Het
Zfp618	A	G	4: 63,051,474 (GRCm39)	S659G	probably damaging	Het
Zfp872	A	G	9: 22,111,349 (GRCm39)	K275R	probably damaging	Het
Zzef1	C	T	11: 72,777,535 (GRCm39)	P1789S	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
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
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'- TTCTGAATGGCTCCCCTAGAG -3'
(R):5'- CCAACTCGTTCAGCTAACTCAG -3'

Sequencing Primer
(F):5'- CTCCCCTAGAGCAAGAGATAAAGG -3'
(R):5'- CTTAATTTTAGAAATGCTGAGCTCTG -3'

Posted On

2014-06-23