Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Mavs'

711379

Institutional Source

Beutler Lab

Gene Symbol

Mavs

Ensembl Gene

ENSMUSG00000037523

Gene Name

mitochondrial antiviral signaling protein

Synonyms

IPS-1, D430028G21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131075983-131089945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131083818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 105 (L105Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038339 (fasta)

Gene Model

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

AlphaFold

Q8VCF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041362
AA Change: L105Q

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

SMART Domains

Protein: ENSMUSP00000038339
Gene: ENSMUSG00000037523
AA Change: L105Q

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: L105Q

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

SMART Domains

Protein: ENSMUSP00000105828
Gene: ENSMUSG00000037523
AA Change: L105Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,615,509 (GRCm39)	K314R	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,005,064 (GRCm39)	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,373,557 (GRCm39)	S2P	probably damaging	Het
Cdh11	A	T	8: 103,406,254 (GRCm39)	L73Q	probably damaging	Het
Cdk15	A	G	1: 59,328,914 (GRCm39)	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,194,178 (GRCm39)	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,258 (GRCm39)	T310A	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ewsr1	A	G	11: 5,022,940 (GRCm39)	M388T	unknown	Het
Fat2	A	G	11: 55,144,348 (GRCm39)		probably null	Het
Gm8225	T	A	17: 26,762,034 (GRCm39)	I75N	probably damaging	Het
Gsap	A	G	5: 21,474,919 (GRCm39)	Y526C	probably damaging	Het
Hk1	T	A	10: 62,131,859 (GRCm39)	I203F	possibly damaging	Het
Insl5	T	C	4: 102,875,535 (GRCm39)	R72G	probably benign	Het
Iqcb1	T	C	16: 36,671,632 (GRCm39)	V321A	probably damaging	Het
Iqcd	A	C	5: 120,738,601 (GRCm39)	T140P		Het
Kcnt2	T	A	1: 140,353,107 (GRCm39)	I272K	probably damaging	Het
Klhl25	A	C	7: 75,515,153 (GRCm39)	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	C	3: 86,205,224 (GRCm39)	V356A	probably damaging	Het
Mast4	A	G	13: 102,887,933 (GRCm39)	Y1159H	probably damaging	Het
Megf6	T	A	4: 154,348,225 (GRCm39)	C902S		Het
Mmp17	A	G	5: 129,682,741 (GRCm39)	D460G	possibly damaging	Het
Myh2	G	T	11: 67,070,454 (GRCm39)	A466S	probably damaging	Het
Neb	T	C	2: 52,147,788 (GRCm39)	N2744D	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or13a26	T	A	7: 140,284,722 (GRCm39)	L186H	probably damaging	Het
Or2a12	T	C	6: 42,904,750 (GRCm39)	V195A	probably benign	Het
Or2aj4	C	T	16: 19,384,731 (GRCm39)	V301M	probably benign	Het
Or4a27	T	A	2: 88,559,551 (GRCm39)	M131L	probably benign	Het
Or6d13	T	G	6: 116,517,708 (GRCm39)	I98S	probably damaging	Het
Or8g55	A	T	9: 39,784,708 (GRCm39)	I46F	possibly damaging	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565 (GRCm39)	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,803,067 (GRCm39)	T304A	probably benign	Het
Pcsk1	T	G	13: 75,280,342 (GRCm39)	S722R	probably benign	Het
Pcsk9	C	A	4: 106,311,723 (GRCm39)	R218L	probably damaging	Het
Pds5a	T	A	5: 65,776,307 (GRCm39)	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,703,270 (GRCm39)	V889L	probably benign	Het
Plekhh2	A	T	17: 84,878,468 (GRCm39)		probably null	Het
Pnn	A	G	12: 59,118,758 (GRCm39)	E447G	probably damaging	Het
Ppp2r3d	A	G	9: 101,025,840 (GRCm39)	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,152,753 (GRCm39)	H298R	probably benign	Het
Ptpn23	T	C	9: 110,216,025 (GRCm39)	N1277S		Het
Pus10	T	A	11: 23,661,202 (GRCm39)	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,400,542 (GRCm39)	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,382,615 (GRCm39)	C23*	probably null	Het
Runx1	T	C	16: 92,485,915 (GRCm39)	N140D	probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,357,040 (GRCm39)	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,066,771 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,335,488 (GRCm39)	H350R	possibly damaging	Het
Spaca6	T	C	17: 18,057,800 (GRCm39)	C155R	probably damaging	Het
Spire2	C	T	8: 124,090,077 (GRCm39)	R580*	probably null	Het
Srgap3	A	T	6: 112,706,616 (GRCm39)	M851K	probably benign	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tlcd4	T	C	3: 121,028,731 (GRCm39)	N52S	probably benign	Het
Trak2	T	C	1: 58,960,296 (GRCm39)	T236A	possibly damaging	Het
Trrap	T	C	5: 144,752,225 (GRCm39)	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,584,500 (GRCm39)	S22203T	probably damaging	Het
Tut7	A	T	13: 59,947,701 (GRCm39)	N873K	probably benign	Het
Ube3a	A	G	7: 58,936,763 (GRCm39)	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912 (GRCm39)	I164V	probably benign	Het
Vcpip1	T	C	1: 9,817,856 (GRCm39)	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626 (GRCm39)	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,451,247 (GRCm39)	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,565 (GRCm39)	T2799S	probably damaging	Het
Vps8	T	C	16: 21,426,927 (GRCm39)	S1337P	probably benign	Het
Zfp235	A	T	7: 23,839,862 (GRCm39)	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,663,366 (GRCm39)	K442E	probably damaging	Het
Zfp418	A	T	7: 7,185,104 (GRCm39)	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,525,185 (GRCm39)	G68S	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
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
Z1176:Mavs	UTSW	2	131,082,321 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCATTGATGCTTATCATGTCTAATG -3'
(R):5'- GCAGGCAGCTTAAAACAGAC -3'

Sequencing Primer
(F):5'- GGAATGCCTTACAGCTGGATCTC -3'
(R):5'- GCTTAAAACAGACTGTGAGGACTTAC -3'

Posted On

2022-05-16