Mutagenetix > Incidental Mutation

Incidental Mutation 'R6211:Mavs'

503438

Institutional Source

Beutler Lab

Gene Symbol

Mavs

Ensembl Gene

ENSMUSG00000037523

Gene Name

mitochondrial antiviral signaling protein

Synonyms

IPS-1, D430028G21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131075983-131089945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131082311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 65 (R65L)

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: R65L

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

SMART Domains

Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: R65L

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: R65L

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

SMART Domains

Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: R65L

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

probably benign
Transcript: ENSMUST00000130597

SMART Domains

Protein: ENSMUSP00000138401
Gene: ENSMUSG00000037523

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132694

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,881,503 (GRCm39)	W391R	probably damaging	Het
Arl6ip1	A	T	7: 117,726,473 (GRCm39)	S18R	probably benign	Het
Armc3	G	A	2: 19,301,614 (GRCm39)		probably null	Het
Ccdc162	G	T	10: 41,506,141 (GRCm39)	S883*	probably null	Het
Cd300lg	A	G	11: 101,944,995 (GRCm39)	M358V	possibly damaging	Het
Cdh23	A	G	10: 60,246,600 (GRCm39)	V949A	possibly damaging	Het
Cenpo	C	T	12: 4,266,733 (GRCm39)	S126N	probably benign	Het
Chd3	A	T	11: 69,243,503 (GRCm39)	D1366E	probably damaging	Het
Chd4	A	G	6: 125,078,248 (GRCm39)	E169G	possibly damaging	Het
Clec1b	A	G	6: 129,378,440 (GRCm39)	T24A	possibly damaging	Het
Clhc1	A	G	11: 29,528,145 (GRCm39)	I558V	probably damaging	Het
Col5a2	T	A	1: 45,415,826 (GRCm39)	R1440S	probably damaging	Het
Cops3	A	G	11: 59,708,727 (GRCm39)		probably benign	Het
Cxcr4	A	G	1: 128,517,187 (GRCm39)	V158A	probably damaging	Het
Dnah7a	A	G	1: 53,458,795 (GRCm39)	M3781T	probably damaging	Het
Dnai7	C	T	6: 145,146,217 (GRCm39)	R95Q	probably damaging	Het
Elovl5	C	A	9: 77,888,784 (GRCm39)	T217K	probably damaging	Het
Fbln7	G	T	2: 128,737,260 (GRCm39)	M358I	probably damaging	Het
Fbxl13	C	T	5: 21,689,019 (GRCm39)	R763Q	possibly damaging	Het
Gabrr3	C	A	16: 59,268,471 (GRCm39)	N361K	probably benign	Het
Garre1	A	T	7: 33,938,429 (GRCm39)	H1035Q	possibly damaging	Het
Gbp7	A	G	3: 142,251,754 (GRCm39)	M534V	probably benign	Het
Hcar2	G	A	5: 124,003,017 (GRCm39)	T162I	probably benign	Het
Hdc	A	T	2: 126,435,897 (GRCm39)	L658Q	probably damaging	Het
Hivep3	A	G	4: 119,955,602 (GRCm39)	Y1306C	probably damaging	Het
Homer3	C	T	8: 70,738,174 (GRCm39)	R49C	probably damaging	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Iqgap3	A	G	3: 87,998,822 (GRCm39)	N308D	probably benign	Het
Itga8	G	A	2: 12,198,320 (GRCm39)	T555M	probably damaging	Het
Lrfn5	G	T	12: 61,886,256 (GRCm39)	V15L	probably benign	Het
Lrrk1	T	C	7: 65,952,458 (GRCm39)	K493E	possibly damaging	Het
Lyzl6	A	G	11: 103,525,889 (GRCm39)	I77T	probably damaging	Het
Mdn1	T	G	4: 32,696,269 (GRCm39)	D1217E	probably benign	Het
Or12d13	A	T	17: 37,647,599 (GRCm39)	F175I	possibly damaging	Het
Or52h1	A	T	7: 103,828,954 (GRCm39)	Y220*	probably null	Het
Or9i1	A	G	19: 13,839,938 (GRCm39)	I260M	probably benign	Het
Otof	C	A	5: 30,529,244 (GRCm39)	V1762L	probably damaging	Het
Pcdha12	T	C	18: 37,153,374 (GRCm39)	L31P	probably damaging	Het
Pxk	C	A	14: 8,163,952 (GRCm38)	P515T	probably damaging	Het
Qrich2	A	T	11: 116,344,368 (GRCm39)	D1759E	probably benign	Het
Rps6ka1	A	T	4: 133,596,617 (GRCm39)	F33Y	probably damaging	Het
Rxfp2	G	A	5: 149,967,591 (GRCm39)		probably null	Het
Slc23a4	A	T	6: 34,933,896 (GRCm39)	I202N	probably damaging	Het
Slc24a5	A	T	2: 124,930,171 (GRCm39)	I491F	probably benign	Het
Slco1a1	T	A	6: 141,854,775 (GRCm39)	K625N	probably benign	Het
Snx31	A	G	15: 36,547,030 (GRCm39)	V51A	probably damaging	Het
Sox6	G	T	7: 115,400,697 (GRCm39)	H48Q	probably damaging	Het
Tas2r109	A	T	6: 132,957,587 (GRCm39)	Y114*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Timm13	A	C	10: 80,736,314 (GRCm39)		probably null	Het
Tpsb2	G	A	17: 25,586,737 (GRCm39)	A250T	possibly damaging	Het
Trpm6	T	C	19: 18,760,492 (GRCm39)	I131T	probably damaging	Het
Vars2	A	T	17: 35,976,554 (GRCm39)		probably null	Het
Vmn2r35	T	A	7: 7,789,527 (GRCm39)	I737F	probably damaging	Het
Wdr46	C	A	17: 34,163,459 (GRCm39)	T339K	probably 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
R0045:Mavs	UTSW	2	131,080,751 (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
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'- TTCAGACAGCTGCCCACTTC -3'
(R):5'- GCTAAGTGCAGCCACACATG -3'

Sequencing Primer
(F):5'- ACAGCTGCCCACTTCCTGTG -3'
(R):5'- AGTGGCTCAGCTGGATCTAAATC -3'

Posted On

2018-02-27