Mutagenetix > Incidental Mutation

Incidental Mutation 'R1218:Inava'

99789

Institutional Source

Beutler Lab

Gene Symbol

Inava

Ensembl Gene

ENSMUSG00000041605

Gene Name

innate immunity activator

Synonyms

5730559C18Rik

MMRRC Submission

039287-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1218 (G1)

Quality Score

147

Status

Not validated

Chromosome

Chromosomal Location

136141269-136162002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136142140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 653 (V653E)

Ref Sequence

ENSEMBL: ENSMUSP00000113785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120339] [ENSMUST00000168561] [ENSMUST00000212798]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120339
AA Change: V653E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: V653E

Domain	Start	End	E-Value	Type
low complexity region	25	65	N/A	INTRINSIC
Pfam:DUF3338	101	230	6.2e-57	PFAM
low complexity region	273	316	N/A	INTRINSIC
low complexity region	353	362	N/A	INTRINSIC
low complexity region	466	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

SMART Domains

Protein: ENSMUSP00000130772
Gene: ENSMUSG00000087230

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	126	669	2e-7	SMART
low complexity region	677	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180496

Predicted Effect

probably benign
Transcript: ENSMUST00000212798

Coding Region Coverage

1x: 99.2%
3x: 97.9%
10x: 93.3%
20x: 80.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	T	15: 81,948,353 (GRCm39)	T750I	probably benign	Het
5330417H12Rik	T	C	7: 107,224,024 (GRCm39)		probably benign	Het
9230109A22Rik	C	T	15: 25,139,024 (GRCm39)		noncoding transcript	Het
Ahnak	A	G	19: 8,992,983 (GRCm39)	K4756E	probably damaging	Het
Ano5	A	T	7: 51,220,169 (GRCm39)		probably null	Het
Bmp6	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	13: 38,530,226 (GRCm39)		probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbfa2t2	A	T	2: 154,365,839 (GRCm39)	M350L	probably benign	Het
Ceacam20	A	T	7: 19,710,022 (GRCm39)	M349L	probably benign	Het
Cfap91	A	G	16: 38,118,495 (GRCm39)	V768A	probably benign	Het
Chd1	G	T	17: 15,945,574 (GRCm39)	G33C	probably damaging	Het
Dhx40	A	G	11: 86,690,310 (GRCm39)	V237A	probably benign	Het
Dlst	G	T	12: 85,170,638 (GRCm39)	D256Y	probably damaging	Het
Dmxl1	T	A	18: 50,026,678 (GRCm39)	S1929T	probably damaging	Het
Exosc10	T	A	4: 148,654,858 (GRCm39)	I551N	probably damaging	Het
Faap100	T	C	11: 120,269,166 (GRCm39)	D91G	probably benign	Het
Fbn1	T	G	2: 125,254,669 (GRCm39)	Q198P	possibly damaging	Het
Flrt2	A	G	12: 95,745,727 (GRCm39)	I22V	probably benign	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
H2bc3	A	G	13: 23,931,142 (GRCm39)	Y122C	probably benign	Het
Kcnn1	T	C	8: 71,305,332 (GRCm39)	I293V	probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Mcpt9	G	T	14: 56,266,125 (GRCm39)	Y34*	probably null	Het
Mepe	A	T	5: 104,474,939 (GRCm39)	M7L	probably benign	Het
Mprip	A	G	11: 59,634,640 (GRCm39)	Y383C	probably damaging	Het
Mtrex	G	A	13: 113,054,156 (GRCm39)	A159V	probably damaging	Het
Myh2	A	T	11: 67,083,351 (GRCm39)	D1438V	probably damaging	Het
Napb	T	C	2: 148,542,345 (GRCm39)	Y205C	probably damaging	Het
Odf2l	A	G	3: 144,854,693 (GRCm39)	D510G	probably damaging	Het
Olfml2b	A	G	1: 170,477,351 (GRCm39)	D162G	probably damaging	Het
Oscp1	T	C	4: 125,952,532 (GRCm39)	V20A	probably benign	Het
Pcdhb10	T	C	18: 37,546,214 (GRCm39)	L430P	probably damaging	Het
Polq	A	G	16: 36,849,808 (GRCm39)	D354G	possibly damaging	Het
Rims1	C	A	1: 22,522,256 (GRCm39)	V481F	probably damaging	Het
Ryr1	A	G	7: 28,785,534 (GRCm39)	I1719T	possibly damaging	Het
Smtn	T	C	11: 3,480,021 (GRCm39)	H400R	probably benign	Het
Snx33	A	G	9: 56,833,269 (GRCm39)	Y267H	probably damaging	Het
Sstr1	T	A	12: 58,260,406 (GRCm39)	M343K	possibly damaging	Het
Stx6	T	C	1: 155,077,737 (GRCm39)	V248A	probably benign	Het
Tbx5	C	T	5: 119,976,785 (GRCm39)	L58F	probably damaging	Het
Tmem241	A	G	18: 12,197,271 (GRCm39)	Y186H	probably damaging	Het
Tnfaip8l3	T	C	9: 53,934,760 (GRCm39)	K72E	probably damaging	Het
Trrap	T	A	5: 144,753,219 (GRCm39)	I1848N	probably damaging	Het
Xrcc6	G	A	15: 81,907,142 (GRCm39)	V155I	probably benign	Het
Zfp458	T	C	13: 67,404,273 (GRCm39)	E722G	probably damaging	Het
Zfyve1	G	T	12: 83,594,825 (GRCm39)	H722Q	possibly damaging	Het

Other mutations in Inava

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Inava	APN	1	136,147,513 (GRCm39)	missense	probably damaging	1.00
IGL02466:Inava	APN	1	136,144,173 (GRCm39)	splice site	probably null
IGL03408:Inava	APN	1	136,142,143 (GRCm39)	missense	probably benign
R0053:Inava	UTSW	1	136,155,288 (GRCm39)	missense	probably benign	0.01
R0053:Inava	UTSW	1	136,155,288 (GRCm39)	missense	probably benign	0.01
R0632:Inava	UTSW	1	136,155,356 (GRCm39)	missense	probably benign	0.06
R1611:Inava	UTSW	1	136,143,855 (GRCm39)	missense	probably damaging	1.00
R3618:Inava	UTSW	1	136,142,110 (GRCm39)	missense	probably benign	0.11
R4256:Inava	UTSW	1	136,142,088 (GRCm39)	missense	probably benign	0.00
R4348:Inava	UTSW	1	136,153,946 (GRCm39)	missense	probably damaging	1.00
R4350:Inava	UTSW	1	136,153,946 (GRCm39)	missense	probably damaging	1.00
R4353:Inava	UTSW	1	136,153,946 (GRCm39)	missense	probably damaging	1.00
R5343:Inava	UTSW	1	136,153,180 (GRCm39)	missense	probably benign	0.01
R6296:Inava	UTSW	1	136,148,809 (GRCm39)	critical splice donor site	probably null
R6597:Inava	UTSW	1	136,153,927 (GRCm39)	missense	probably damaging	1.00
R6983:Inava	UTSW	1	136,147,894 (GRCm39)	missense	possibly damaging	0.59
R7060:Inava	UTSW	1	136,147,935 (GRCm39)	missense	possibly damaging	0.75
R7503:Inava	UTSW	1	136,143,675 (GRCm39)	missense	possibly damaging	0.76
R7527:Inava	UTSW	1	136,142,122 (GRCm39)	missense	possibly damaging	0.67
R7602:Inava	UTSW	1	136,153,135 (GRCm39)	nonsense	probably null
R7675:Inava	UTSW	1	136,143,741 (GRCm39)	missense	probably benign	0.04
R7756:Inava	UTSW	1	136,144,171 (GRCm39)	missense	probably benign	0.01
R7912:Inava	UTSW	1	136,155,279 (GRCm39)	missense	probably benign	0.03
R8261:Inava	UTSW	1	136,153,215 (GRCm39)	missense	probably damaging	1.00
R9402:Inava	UTSW	1	136,155,348 (GRCm39)	missense	probably benign
X0017:Inava	UTSW	1	136,147,920 (GRCm39)	missense	probably damaging	1.00
Z1176:Inava	UTSW	1	136,147,521 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GCTCGACATTAGTCCAAAAGGCCAG -3'
(R):5'- AGAAGGTCAGGGTGACCGTCATAC -3'

Sequencing Primer
(F):5'- GAAAGGTCTCAGCTCTGCATC -3'
(R):5'- TACCTGGGGGGCATCATTC -3'

Posted On

2014-01-15