Mutagenetix > Incidental Mutation

Incidental Mutation 'R9091:Mefv'

691025

Institutional Source

Beutler Lab

Gene Symbol

Mefv

Ensembl Gene

ENSMUSG00000022534

Gene Name

Mediterranean fever

Synonyms

FMF, TRIM20, pyrin, marenostrin

Accession Numbers

Essential gene?

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

Stock #

R9091 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3525082-3535961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3535841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 29 (Q29P)

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: Q29P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023180
Gene: ENSMUSG00000022534
AA Change: Q29P

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: Q29P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097795
Gene: ENSMUSG00000022534
AA Change: Q29P

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: Q29P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	T	A	3: 30,652,781 (GRCm39)	E104D	probably damaging	Het
Arih2	A	T	9: 108,493,890 (GRCm39)	D174E	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Baiap2l2	A	G	15: 79,168,205 (GRCm39)		probably null	Het
Btla	T	C	16: 45,064,656 (GRCm39)	F203L	possibly damaging	Het
C1rb	A	T	6: 124,551,947 (GRCm39)	D283V	probably damaging	Het
C87436	C	G	6: 86,442,813 (GRCm39)	Q462E	probably benign	Het
Ccdc149	T	C	5: 52,563,352 (GRCm39)	D147G	possibly damaging	Het
Chd6	A	T	2: 160,871,793 (GRCm39)	L214*	probably null	Het
Chrna4	C	A	2: 180,670,643 (GRCm39)	R371L	possibly damaging	Het
Cit	C	A	5: 115,984,161 (GRCm39)		probably benign	Het
Cpne5	A	G	17: 29,444,163 (GRCm39)		probably null	Het
Cr1l	T	C	1: 194,789,204 (GRCm39)	E400G	possibly damaging	Het
Creb3l2	T	C	6: 37,332,583 (GRCm39)	N304D	probably damaging	Het
Cyp17a1	T	C	19: 46,656,030 (GRCm39)	T420A	probably benign	Het
Cyp24a1	A	G	2: 170,327,853 (GRCm39)	I463T	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,973 (GRCm39)	I84N	probably damaging	Het
Dnajc6	G	A	4: 101,496,559 (GRCm39)	V909M	possibly damaging	Het
Dtl	A	G	1: 191,288,923 (GRCm39)	Y264H	probably damaging	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Egf	A	G	3: 129,529,449 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,701,231 (GRCm39)	S402P	probably benign	Het
Fcho2	A	T	13: 98,925,869 (GRCm39)		probably null	Het
Fhdc1	G	A	3: 84,352,290 (GRCm39)	R197C	unknown	Het
Foxa2	T	A	2: 147,886,426 (GRCm39)	M136L	probably benign	Het
Gm10226	T	C	17: 21,910,866 (GRCm39)	C34R	possibly damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8947	T	C	1: 151,068,853 (GRCm39)	S229P	probably benign	Het
Ighv9-2	A	T	12: 114,072,896 (GRCm39)	S26T	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat6a	T	G	8: 23,420,190 (GRCm39)	I745M	probably damaging	Het
Klhdc1	T	C	12: 69,309,968 (GRCm39)	L290P	probably damaging	Het
Lcp2	C	T	11: 34,039,688 (GRCm39)	T496I		Het
Map4k4	T	C	1: 40,042,923 (GRCm39)	W593R	probably benign	Het
Mgat5b	T	C	11: 116,859,269 (GRCm39)	Y34H		Het
Mlip	C	T	9: 77,137,080 (GRCm39)	R609Q	probably benign	Het
Muc2	A	G	7: 141,290,816 (GRCm39)	D34G		Het
Nbeal1	C	T	1: 60,307,548 (GRCm39)	P1687S	possibly damaging	Het
Notch1	T	A	2: 26,369,895 (GRCm39)	I477L	probably damaging	Het
Odad2	T	A	18: 7,217,846 (GRCm39)	K623*	probably null	Het
Or1l4b	G	A	2: 37,037,047 (GRCm39)	M274I	probably benign	Het
Or1s2	T	C	19: 13,758,333 (GRCm39)	V117A	probably benign	Het
Or4a2	A	T	2: 89,248,712 (GRCm39)	L15Q	probably damaging	Het
Or51v8	T	A	7: 103,320,124 (GRCm39)	N38I	probably damaging	Het
Or6c214	A	G	10: 129,591,148 (GRCm39)	M57T	probably damaging	Het
Pak5	A	T	2: 135,958,688 (GRCm39)	S133R	probably damaging	Het
Pcyt1a	C	A	16: 32,285,332 (GRCm39)	D187E	probably benign	Het
Pdlim7	G	T	13: 55,655,354 (GRCm39)	T161K	probably damaging	Het
Phf8-ps	A	C	17: 33,286,701 (GRCm39)	C34G	probably damaging	Het
Pik3r4	A	G	9: 105,547,108 (GRCm39)	K962R	probably benign	Het
Pkd1l2	T	C	8: 117,759,433 (GRCm39)	K1516E	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ptchd3	A	T	11: 121,733,180 (GRCm39)	Y690F	probably benign	Het
Ptpn13	A	T	5: 103,649,735 (GRCm39)	R379S	possibly damaging	Het
Rbm27	C	T	18: 42,438,829 (GRCm39)	A410V	probably benign	Het
Rnase4	A	G	14: 51,342,662 (GRCm39)	T129A	probably benign	Het
Serpinb11	C	T	1: 107,304,533 (GRCm39)	T166I	probably benign	Het
Shank2	A	G	7: 143,963,705 (GRCm39)	T438A	possibly damaging	Het
Slc13a2	T	C	11: 78,295,258 (GRCm39)	N172D	probably damaging	Het
Slc2a8	A	G	2: 32,864,864 (GRCm39)	F428L	probably damaging	Het
Slc38a6	T	C	12: 73,398,544 (GRCm39)	M358T	probably benign	Het
Snx29	A	G	16: 11,213,155 (GRCm39)	H107R	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Spint3	G	A	2: 164,415,154 (GRCm39)	A21V	probably benign	Het
Susd1	A	T	4: 59,412,226 (GRCm39)	V162E	probably benign	Het
Syne2	T	G	12: 75,977,834 (GRCm39)	N1426K	probably damaging	Het
Synj2	T	C	17: 6,067,875 (GRCm39)	V638A	possibly damaging	Het
Thada	A	T	17: 84,538,589 (GRCm39)	L1473Q	probably damaging	Het
Trim36	G	A	18: 46,300,580 (GRCm39)	S697L	possibly damaging	Het
Ttbk1	A	T	17: 46,781,517 (GRCm39)	I412N	possibly damaging	Het
Tubb2a	T	C	13: 34,258,578 (GRCm39)	D404G	probably damaging	Het
Tyk2	T	A	9: 21,035,841 (GRCm39)	N114Y	probably damaging	Het
Umodl1	A	G	17: 31,185,678 (GRCm39)	D139G	probably damaging	Het
Vmn2r101	T	A	17: 19,810,244 (GRCm39)	N343K	probably benign	Het
Vnn1	A	G	10: 23,780,464 (GRCm39)	D484G	probably damaging	Het
Vps13b	A	G	15: 35,770,919 (GRCm39)	T2121A	probably benign	Het
Wdr81	T	C	11: 75,345,216 (GRCm39)	E17G	probably benign	Het
Wnk2	T	G	13: 49,224,505 (GRCm39)	K1117Q	probably benign	Het
Zbtb46	C	T	2: 181,066,138 (GRCm39)	R4Q	probably benign	Het
Zfp608	T	A	18: 55,032,190 (GRCm39)	K583N	probably damaging	Het
Zfp729b	A	T	13: 67,740,480 (GRCm39)	L595H	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
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
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
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'- GAAGCTCCTCTGCTAGTTGG -3'
(R):5'- TCCCACCAAAGCTGATGTG -3'

Sequencing Primer
(F):5'- CCTCTGCTAGTTGGCGCTG -3'
(R):5'- AGCTGATGTGCTTCCTGC -3'

Posted On

2021-12-30