Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01941:Mavs'

181144

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01941

Quality Score

Status

Chromosome

Chromosomal Location

131075983-131089945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131088525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 443 (V443A)

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: V443A

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

SMART Domains

Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: V443A

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: V443A

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

SMART Domains

Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: V443A

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

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,094,802 (GRCm39)	L123Q	probably benign	Het
Abca2	C	T	2: 25,333,107 (GRCm39)	S1602F	probably benign	Het
Abcc9	C	A	6: 142,551,630 (GRCm39)	C1191F	probably damaging	Het
Adam3	G	T	8: 25,171,462 (GRCm39)		probably benign	Het
Aldh1l1	G	T	6: 90,539,677 (GRCm39)	G202V	probably damaging	Het
Ankrd46	T	C	15: 36,486,083 (GRCm39)	N57D	possibly damaging	Het
Asic1	A	T	15: 99,596,982 (GRCm39)	H548L	possibly damaging	Het
Atpaf2	A	G	11: 60,294,724 (GRCm39)	I233T	probably benign	Het
Ccdc185	G	T	1: 182,575,769 (GRCm39)	Q307K	probably benign	Het
Cep120	T	C	18: 53,856,220 (GRCm39)	D399G	probably benign	Het
Cnn2	G	A	10: 79,828,388 (GRCm39)	V122M	probably benign	Het
Dgkd	T	C	1: 87,852,281 (GRCm39)	S472P	probably damaging	Het
Dock5	A	C	14: 68,049,681 (GRCm39)	I701S	probably damaging	Het
Efl1	A	G	7: 82,347,184 (GRCm39)	E570G	probably benign	Het
Eln	G	A	5: 134,747,024 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,831 (GRCm39)	V81A	probably benign	Het
Fbxw21	T	G	9: 108,977,224 (GRCm39)	I162L	probably benign	Het
Fhl2	G	A	1: 43,170,832 (GRCm39)	Q161*	probably null	Het
Gabrg2	A	G	11: 41,862,548 (GRCm39)	Y179H	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Grik5	A	T	7: 24,764,607 (GRCm39)	I152N	probably damaging	Het
H2-Ab1	A	T	17: 34,486,408 (GRCm39)	K156*	probably null	Het
Hecw1	T	C	13: 14,490,895 (GRCm39)	Y699C	probably benign	Het
Ipo9	A	C	1: 135,335,811 (GRCm39)	V202G	possibly damaging	Het
Itprid1	A	G	6: 55,945,030 (GRCm39)	R584G	probably benign	Het
Jmjd6	A	T	11: 116,732,184 (GRCm39)		probably null	Het
Lama5	A	G	2: 179,834,185 (GRCm39)	I1416T	possibly damaging	Het
Matn1	T	C	4: 130,679,572 (GRCm39)		probably benign	Het
Mpdz	A	T	4: 81,204,624 (GRCm39)	S1798R	possibly damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Or4a78	A	T	2: 89,497,812 (GRCm39)	C139*	probably null	Het
Otud7b	G	T	3: 96,062,776 (GRCm39)	G672C	probably benign	Het
Palld	T	A	8: 61,988,734 (GRCm39)	T572S	probably benign	Het
Pde6b	T	A	5: 108,570,902 (GRCm39)	V379E	probably benign	Het
Peak1	A	G	9: 56,166,059 (GRCm39)	V623A	probably damaging	Het
Prr12	C	T	7: 44,698,083 (GRCm39)		probably benign	Het
Rxra	T	C	2: 27,644,253 (GRCm39)	I315T	probably damaging	Het
Slc11a1	C	T	1: 74,416,338 (GRCm39)	A55V	probably damaging	Het
Slitrk3	T	C	3: 72,958,404 (GRCm39)	N123D	possibly damaging	Het
Smr2l	A	G	5: 88,430,301 (GRCm39)	S66G	probably benign	Het
Spcs1	A	G	14: 30,722,829 (GRCm39)	M82T	probably damaging	Het
Sspo	A	G	6: 48,472,116 (GRCm39)	E113G	probably benign	Het
Syne2	A	G	12: 76,013,994 (GRCm39)	K3062E	probably benign	Het
Traf3ip2	T	C	10: 39,510,656 (GRCm39)	S310P	probably benign	Het
Ubp1	T	C	9: 113,785,826 (GRCm39)	L167S	probably damaging	Het
Vmn1r196	T	A	13: 22,477,869 (GRCm39)	C169*	probably null	Het
Vmn1r223	T	A	13: 23,434,407 (GRCm39)	F334I	possibly damaging	Het
Vmn2r10	A	T	5: 109,143,820 (GRCm39)	I710N	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdr26	A	G	1: 181,038,635 (GRCm39)		probably benign	Het
Wnt7a	A	G	6: 91,371,645 (GRCm39)	F106L	probably benign	Het
Zfp940	C	T	7: 29,546,295 (GRCm39)	V34M	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
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
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

Posted On

2014-05-07