Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Mavs'

32740

Institutional Source

Beutler Lab

Gene Symbol

Mavs

Ensembl Gene

ENSMUSG00000037523

Gene Name

mitochondrial antiviral signaling protein

Synonyms

IPS-1, D430028G21Rik

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0045 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

131075983-131089945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131080751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 13 (R13Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041362] [ENSMUST00000110199] [ENSMUST00000130597]

AlphaFold

Q8VCF0

PDB Structure

Crystal structure of TRAF3/Cardif [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041362
AA Change: R13Q

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

SMART Domains

Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: R13Q

Domain	Start	End	E-Value	Type
PDB:3J6C\|A	1	93	6e-41	PDB
PDB:4GHU\|B	138	158	6e-6	PDB
low complexity region	244	265	N/A	INTRINSIC
low complexity region	276	296	N/A	INTRINSIC
transmembrane domain	479	496	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110199
AA Change: R13Q

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

SMART Domains

Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: R13Q

Domain	Start	End	E-Value	Type
Pfam:CARD_2	4	92	1.9e-22	PFAM
PDB:4GHU\|B	138	158	6e-6	PDB
low complexity region	244	265	N/A	INTRINSIC
low complexity region	276	296	N/A	INTRINSIC
transmembrane domain	479	496	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130597
AA Change: R13Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138401
Gene: ENSMUSG00000037523
AA Change: R13Q

Domain	Start	End	E-Value	Type
PDB:3J6C\|A	1	52	8e-16	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132694

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous and heterozygous mice for mutations display defective innate immunity in response to viral infections. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Targeted(5) Gene trapped(6)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cds2	G	T	2: 132,147,075 (GRCm39)	G402V	possibly damaging	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	Het

Other mutations in Mavs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Mavs	APN	2	131,088,636 (GRCm39)	missense	probably damaging	1.00
IGL01520:Mavs	APN	2	131,087,263 (GRCm39)	missense	probably benign	0.38
IGL01909:Mavs	APN	2	131,087,441 (GRCm39)	missense	probably benign	0.43
IGL01941:Mavs	APN	2	131,088,525 (GRCm39)	missense	probably damaging	1.00
R0044:Mavs	UTSW	2	131,083,944 (GRCm39)	missense	probably damaging	1.00
R0044:Mavs	UTSW	2	131,083,944 (GRCm39)	missense	probably damaging	1.00
R0751:Mavs	UTSW	2	131,088,684 (GRCm39)	missense	probably damaging	1.00
R2051:Mavs	UTSW	2	131,082,370 (GRCm39)	missense	possibly damaging	0.94
R2061:Mavs	UTSW	2	131,082,226 (GRCm39)	splice site	probably benign
R2475:Mavs	UTSW	2	131,082,370 (GRCm39)	missense	probably damaging	1.00
R3883:Mavs	UTSW	2	131,087,218 (GRCm39)	missense	probably benign
R4152:Mavs	UTSW	2	131,088,528 (GRCm39)	missense	probably benign	0.22
R4580:Mavs	UTSW	2	131,082,370 (GRCm39)	missense	probably damaging	1.00
R4619:Mavs	UTSW	2	131,082,370 (GRCm39)	missense	probably damaging	1.00
R4779:Mavs	UTSW	2	131,082,285 (GRCm39)	missense	probably damaging	1.00
R4928:Mavs	UTSW	2	131,088,663 (GRCm39)	missense	probably benign	0.00
R6092:Mavs	UTSW	2	131,087,518 (GRCm39)	nonsense	probably null
R6211:Mavs	UTSW	2	131,082,311 (GRCm39)	missense	probably damaging	0.99
R7024:Mavs	UTSW	2	131,085,051 (GRCm39)	missense	probably benign	0.01
R7568:Mavs	UTSW	2	131,087,395 (GRCm39)	missense	probably benign	0.17
R8121:Mavs	UTSW	2	131,087,395 (GRCm39)	missense	probably damaging	0.98
R8306:Mavs	UTSW	2	131,088,470 (GRCm39)	missense	probably benign	0.01
R8877:Mavs	UTSW	2	131,087,489 (GRCm39)	missense	possibly damaging	0.88
R9020:Mavs	UTSW	2	131,088,594 (GRCm39)	missense	possibly damaging	0.87
R9117:Mavs	UTSW	2	131,087,245 (GRCm39)	missense	probably benign	0.01
R9404:Mavs	UTSW	2	131,083,818 (GRCm39)	missense	probably damaging	0.99
Z1176:Mavs	UTSW	2	131,082,321 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATTGCCAGCTCTGTGCTCATC -3'
(R):5'- AGCTGATCCTGACCTGGGAGAAAG -3'

Sequencing Primer
(F):5'- tgtcctcttctgtcctccc -3'
(R):5'- GAGAAAGGCCAGGCCAG -3'

Posted On

2013-05-09