Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02500:Mefv'

295996

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

TRIM20, marenostrin, pyrin, FMF

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

3707218-3718097 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3713577 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 459 (H459R)

Ref Sequence

ENSEMBL: ENSMUSP00000154892 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023180
AA Change: H459R

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

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: H459R

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: H489R

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

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: H489R

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: H459R

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

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,618,926	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,337,389	L674*	probably null	Het
Arhgef10	G	A	8: 14,961,238	E265K	probably damaging	Het
Cd53	A	G	3: 106,768,826	I75T	probably damaging	Het
Col26a1	A	T	5: 136,754,339	L235*	probably null	Het
Crem	G	T	18: 3,273,477	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,470,650	D344G	probably damaging	Het
Cyr61	T	C	3: 145,648,700	K152R	probably damaging	Het
Dchs1	T	C	7: 105,755,806	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,988,088	Q215R	possibly damaging	Het
Espl1	A	G	15: 102,315,800	H1262R	probably benign	Het
Exoc2	G	T	13: 30,911,196	T239K	probably damaging	Het
Fzd6	A	T	15: 39,031,386	S316C	probably damaging	Het
Htra1	A	G	7: 130,984,974	K429R	probably benign	Het
Il1rapl2	C	T	X: 138,846,503	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,661,112		probably benign	Het
Kiz	G	A	2: 146,863,813	V98I	probably benign	Het
Klk1b24	A	T	7: 44,188,324		probably benign	Het
Lrrc30	T	A	17: 67,631,862	N241I	probably damaging	Het
Map2k4	A	G	11: 65,696,310	V288A	probably damaging	Het
Mettl21a	G	T	1: 64,608,054	Q115K	probably benign	Het
Msra	A	G	14: 64,285,188		probably benign	Het
Myh8	G	A	11: 67,305,710	R1752H	probably benign	Het
Nrp1	T	C	8: 128,425,799	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,135,330	Y60F	probably damaging	Het
Pax6	G	T	2: 105,692,770	R317L	probably benign	Het
Pcdh17	A	G	14: 84,533,469	E1129G	probably benign	Het
Phlpp2	C	T	8: 109,913,618	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Prkce	A	G	17: 86,168,914	N108D	probably benign	Het
Prkdc	T	G	16: 15,714,282		probably null	Het
Ptprm	T	C	17: 66,920,048	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 180,279,329	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,872,960	L33F	probably benign	Het
Slc16a7	T	A	10: 125,230,933	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,388,713	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sspo	C	A	6: 48,478,379	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,667,323		probably null	Het
Txnrd1	T	G	10: 82,879,217	W98G	probably damaging	Het
Ulk1	A	T	5: 110,809,134	I66N	probably damaging	Het
Ush2a	A	G	1: 188,822,696	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,428,226	H172L	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	A	7: 81,041,726	C1218S	probably benign	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
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
X0064:Mefv	UTSW	16	3710841	missense	possibly damaging	0.71
Z1176:Mefv	UTSW	16	3715455	missense	possibly damaging	0.67

Posted On

2015-04-16