Mutagenetix > Incidental Mutation

Incidental Mutation 'R8877:Mavs'

676617

Institutional Source

Beutler Lab

Gene Symbol

Mavs

Ensembl Gene

ENSMUSG00000037523

Gene Name

mitochondrial antiviral signaling protein

Synonyms

IPS-1, D430028G21Rik

MMRRC Submission

068745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8877 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131075983-131089945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131087489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 329 (N329S)

Ref Sequence

ENSEMBL: ENSMUSP00000038339 (fasta)

Gene Model

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

AlphaFold

Q8VCF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041362
AA Change: N329S

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: N329S

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

possibly damaging
Transcript: ENSMUST00000110199
AA Change: N329S

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: N329S

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

Meta Mutation Damage Score

0.1550

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,288,704 (GRCm39)		probably null	Het
Acp2	G	A	2: 91,036,129 (GRCm39)	R109H	probably damaging	Het
Adamts8	T	C	9: 30,862,688 (GRCm39)	S298P	probably damaging	Het
Anxa7	A	G	14: 20,517,548 (GRCm39)	V157A	probably benign	Het
Arid3b	T	C	9: 57,740,904 (GRCm39)	K181E	probably damaging	Het
Armt1	A	G	10: 4,400,864 (GRCm39)	T204A	possibly damaging	Het
Brip1	A	C	11: 86,043,532 (GRCm39)	V344G	possibly damaging	Het
Ccdc40	C	T	11: 119,153,992 (GRCm39)	S1088L	probably damaging	Het
Ccdc93	A	T	1: 121,403,867 (GRCm39)	H332L	probably benign	Het
Celsr3	A	G	9: 108,706,877 (GRCm39)	D1120G	probably damaging	Het
Cep104	T	A	4: 154,077,985 (GRCm39)	I631N	probably damaging	Het
Col17a1	C	T	19: 47,637,197 (GRCm39)	A1354T	unknown	Het
Cpa2	T	C	6: 30,541,692 (GRCm39)	L10P	probably damaging	Het
Creg2	G	T	1: 39,689,861 (GRCm39)	T83K	probably benign	Het
Ddit3	T	C	10: 127,131,884 (GRCm39)	I144T	probably damaging	Het
Dmxl1	A	G	18: 50,011,292 (GRCm39)	I1150V	possibly damaging	Het
Eprs1	C	T	1: 185,148,071 (GRCm39)	R1278*	probably null	Het
Esco1	A	G	18: 10,575,017 (GRCm39)	V685A	probably damaging	Het
Gid8	C	T	2: 180,358,710 (GRCm39)	A125V	probably damaging	Het
Gin1	A	G	1: 97,710,941 (GRCm39)	D208G	possibly damaging	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Grin2d	T	C	7: 45,503,699 (GRCm39)	I679V	probably damaging	Het
Gsto2	C	A	19: 47,873,176 (GRCm39)	R184S	probably damaging	Het
Hira	T	A	16: 18,770,854 (GRCm39)	H830Q	probably benign	Het
Hmcn1	G	A	1: 150,514,659 (GRCm39)	T3571I	probably benign	Het
Khnyn	T	C	14: 56,131,782 (GRCm39)	V568A	possibly damaging	Het
Kif13a	T	A	13: 46,954,921 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,193,835 (GRCm39)	V161A	probably benign	Het
Larp6	T	A	9: 60,644,850 (GRCm39)	M330K	probably benign	Het
Lhfpl6	A	G	3: 52,950,974 (GRCm39)	R83G	possibly damaging	Het
Mep1b	T	A	18: 21,221,630 (GRCm39)	N193K	possibly damaging	Het
Msantd5f6	T	A	4: 73,322,468 (GRCm39)	R12*	probably null	Het
Mttp	A	T	3: 137,818,317 (GRCm39)	D380E	probably damaging	Het
Nbeal2	G	A	9: 110,459,311 (GRCm39)	T1939I	probably damaging	Het
Nsun7	A	T	5: 66,453,294 (GRCm39)	R670*	probably null	Het
Obsl1	G	A	1: 75,473,167 (GRCm39)	R1019*	probably null	Het
Or10ak12	A	G	4: 118,666,482 (GRCm39)	V193A	probably damaging	Het
Or5w11	T	C	2: 87,459,212 (GRCm39)	M19T	probably damaging	Het
Phc3	C	T	3: 30,968,271 (GRCm39)	V922I	probably damaging	Het
Pip5kl1	T	C	2: 32,468,951 (GRCm39)	V190A	possibly damaging	Het
Plekhg2	G	T	7: 28,060,278 (GRCm39)	T993N	possibly damaging	Het
Psg26	C	T	7: 18,217,865 (GRCm39)	V18I	probably benign	Het
Slc11a1	A	G	1: 74,419,424 (GRCm39)	Y187C	probably damaging	Het
Smarcd3	A	G	5: 24,798,990 (GRCm39)	S323P	possibly damaging	Het
Spen	G	T	4: 141,199,137 (GRCm39)	Y3163*	probably null	Het
Stx4a	T	A	7: 127,447,633 (GRCm39)	V259D	probably damaging	Het
Synj2	T	C	17: 6,087,941 (GRCm39)	S1331P	probably damaging	Het
Tmprss11c	G	A	5: 86,385,540 (GRCm39)	Q311*	probably null	Het
Tpo	T	A	12: 30,142,738 (GRCm39)	N662I	probably damaging	Het
Trav13d-4	C	A	14: 53,995,350 (GRCm39)	D101E	probably damaging	Het
Trbv14	G	A	6: 41,112,292 (GRCm39)	A30T	probably benign	Het
Unc80	T	C	1: 66,567,144 (GRCm39)	S917P	possibly damaging	Het
Zc3h6	T	A	2: 128,856,319 (GRCm39)	C466*	probably null	Het
Zfp462	T	C	4: 55,011,097 (GRCm39)	V1021A	probably damaging	Het
Zfp51	T	C	17: 21,682,017 (GRCm39)	M72T	probably damaging	Het
Zfp704	C	T	3: 9,674,416 (GRCm39)	E122K	unknown	Het
Zfyve26	T	C	12: 79,334,152 (GRCm39)	K289E	probably benign	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
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
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'- CCAAAGCTGCCACCTGTTTC -3'
(R):5'- ATCTGTCCCAACACCTTGAAG -3'

Sequencing Primer
(F):5'- AAAGCTGCCACCTGTTTCAGTAC -3'
(R):5'- CCGCACAGAAAGTAAGAGTCTG -3'

Posted On

2021-07-15