Mutagenetix > Incidental Mutation

Incidental Mutation 'R7410:Mefv'

575038

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

FMF, TRIM20, pyrin, marenostrin

MMRRC Submission

045491-MU

Accession Numbers

Essential gene?

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

Stock #

R7410 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3525082-3535961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3533545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 242 (L242P)

Ref Sequence

ENSEMBL: ENSMUSP00000097795 (fasta)

Gene Model

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

AlphaFold

Q9JJ26

Predicted Effect

probably damaging
Transcript: ENSMUST00000023180
AA Change: L242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: L242P

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 damaging
Transcript: ENSMUST00000100222
AA Change: L242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: L242P

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 damaging
Transcript: ENSMUST00000229725
AA Change: L242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,551 (GRCm39)	S3P	unknown	Het
Adgrv1	A	T	13: 81,711,738 (GRCm39)	D1079E	probably benign	Het
Agbl5	A	T	5: 31,048,032 (GRCm39)	Y102F	possibly damaging	Het
Ankfy1	T	C	11: 72,652,330 (GRCm39)	L1094S	probably damaging	Het
Ankrd42	A	T	7: 92,259,762 (GRCm39)	V337E	possibly damaging	Het
Axl	A	G	7: 25,458,208 (GRCm39)	L849P	probably benign	Het
Bmpr2	T	C	1: 59,907,652 (GRCm39)	I915T	probably benign	Het
Cables1	T	A	18: 12,074,282 (GRCm39)	F494L	probably benign	Het
Cacna1e	A	C	1: 154,347,980 (GRCm39)	V927G	probably benign	Het
Cavin1	A	T	11: 100,849,670 (GRCm39)	V320E	probably damaging	Het
Cemip	T	G	7: 83,602,042 (GRCm39)	S916R	probably damaging	Het
Cep57	G	A	9: 13,729,980 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,919,433 (GRCm39)	N120D	probably damaging	Het
Cfap44	A	T	16: 44,288,776 (GRCm39)	S1509C	probably damaging	Het
Chga	A	G	12: 102,528,866 (GRCm39)	D281G	probably benign	Het
Clstn2	A	G	9: 97,423,920 (GRCm39)	F282L	probably benign	Het
Cnot1	A	T	8: 96,459,787 (GRCm39)	V1855E	possibly damaging	Het
Cnr1	T	A	4: 33,944,119 (GRCm39)	V169D	probably damaging	Het
Cpd	T	A	11: 76,673,134 (GRCm39)	H1337L	probably damaging	Het
Crabp2	T	A	3: 87,859,585 (GRCm39)	D78E	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp2ab1	G	A	16: 20,135,475 (GRCm39)	A9V	probably benign	Het
Cyp3a41b	T	C	5: 145,514,967 (GRCm39)	D86G	probably damaging	Het
Dner	T	A	1: 84,563,332 (GRCm39)	D96V	probably damaging	Het
Duox1	C	A	2: 122,176,874 (GRCm39)	T1465N	probably damaging	Het
Ehd3	T	A	17: 74,112,428 (GRCm39)	V64E	probably benign	Het
Ehmt1	A	G	2: 24,738,080 (GRCm39)	V508A	probably benign	Het
Ephb3	G	A	16: 21,040,158 (GRCm39)	V761I	possibly damaging	Het
Fam161b	T	C	12: 84,404,575 (GRCm39)	Q35R	probably benign	Het
Fam186a	T	A	15: 99,844,826 (GRCm39)	K473*	probably null	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Fkbp15	C	A	4: 62,258,536 (GRCm39)	D144Y	probably damaging	Het
Galt	T	C	4: 41,757,707 (GRCm39)	I259T	possibly damaging	Het
Gbp11	G	A	5: 105,491,774 (GRCm39)	P8S	probably damaging	Het
Gfap	A	T	11: 102,783,963 (GRCm39)	M339K	probably damaging	Het
Gm14443	C	T	2: 175,011,069 (GRCm39)	R459Q	possibly damaging	Het
Grip1	A	G	10: 119,855,925 (GRCm39)	N632S	probably benign	Het
H4c18	G	A	13: 22,016,211 (GRCm39)	R40W	probably damaging	Het
Hcar1	T	G	5: 124,017,161 (GRCm39)	I177L	possibly damaging	Het
Ighv1-37	A	G	12: 114,860,099 (GRCm39)	V37A	probably damaging	Het
Ilf3	T	A	9: 21,311,100 (GRCm39)	F657L	unknown	Het
Ints2	T	G	11: 86,124,052 (GRCm39)	T579P	probably benign	Het
Iqgap1	G	T	7: 80,372,778 (GRCm39)	Y1520*	probably null	Het
Kdm4a	T	C	4: 118,001,115 (GRCm39)	H884R	possibly damaging	Het
Krtap19-1	A	T	16: 88,666,132 (GRCm39)	Y52N	unknown	Het
Lama5	A	T	2: 179,844,183 (GRCm39)		probably null	Het
Lrrc72	T	C	12: 36,272,803 (GRCm39)	N89D	probably damaging	Het
Med13l	A	G	5: 118,698,897 (GRCm39)	D16G	possibly damaging	Het
Mob3c	T	C	4: 115,688,784 (GRCm39)	Y106H	probably damaging	Het
Nlrp1a	A	G	11: 71,014,683 (GRCm39)	I189T	probably damaging	Het
Nudt7	T	C	8: 114,860,559 (GRCm39)		probably benign	Het
Or13p10	T	C	4: 118,523,629 (GRCm39)	L305P	probably benign	Het
Or4f7	T	A	2: 111,644,271 (GRCm39)	I267L	probably benign	Het
Pappa	A	G	4: 65,253,956 (GRCm39)	T1537A	probably damaging	Het
Pik3r4	T	A	9: 105,527,790 (GRCm39)	V381E	probably damaging	Het
Pkd1	T	A	17: 24,794,855 (GRCm39)	Y2181N	probably damaging	Het
Pmel	G	T	10: 128,552,353 (GRCm39)	V396F	probably benign	Het
Prdm9	A	G	17: 15,765,259 (GRCm39)	I507T	possibly damaging	Het
Psme4	C	T	11: 30,765,279 (GRCm39)	Q549*	probably null	Het
Ptprg	T	A	14: 11,962,657 (GRCm38)	W152R	probably damaging	Het
Ptprm	A	C	17: 67,000,561 (GRCm39)	V1141G	probably damaging	Het
Rapgef5	G	A	12: 117,685,063 (GRCm39)	V505M	probably damaging	Het
Rnf213	T	A	11: 119,325,877 (GRCm39)	M1558K		Het
Slc35a1	A	G	4: 34,675,034 (GRCm39)	V168A	probably benign	Het
Srebf1	T	C	11: 60,096,693 (GRCm39)	T347A	probably benign	Het
Stard9	T	A	2: 120,531,978 (GRCm39)	V2745D	probably benign	Het
Taar7e	A	T	10: 23,914,424 (GRCm39)	T305S	probably benign	Het
Tie1	T	C	4: 118,337,074 (GRCm39)	S551G	probably benign	Het
Tmc5	T	A	7: 118,222,820 (GRCm39)	Y173*	probably null	Het
Tns2	T	A	15: 102,018,961 (GRCm39)	V384D	probably damaging	Het
Tubgcp4	T	A	2: 121,014,890 (GRCm39)	Y267N	probably damaging	Het
Vmn1r53	A	G	6: 90,200,700 (GRCm39)	V208A	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	T	C	14: 32,696,191 (GRCm39)	D2784G		Het
Zfp712	A	C	13: 67,189,400 (GRCm39)	S376A	probably benign	Het
Znrf3	C	T	11: 5,238,955 (GRCm39)	C232Y	unknown	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
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
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'- TCCCCAATCAACGATGTTTTGG -3'
(R):5'- TATAGGAGAACCCAGGGCAC -3'

Sequencing Primer
(F):5'- CCCAATCAACGATGTTTTGGAAGAC -3'
(R):5'- CACCCAGTCCCCAGGGG -3'

Posted On

2019-10-07