Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Inava'

176770

Institutional Source

Beutler Lab

Gene Symbol

Inava

Ensembl Gene

ENSMUSG00000041605

Gene Name

innate immunity activator

Synonyms

5730559C18Rik

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1611 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

136141269-136162002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 136143855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 527 (P527L)

Ref Sequence

ENSEMBL: ENSMUSP00000113785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120339] [ENSMUST00000144464] [ENSMUST00000150163] [ENSMUST00000168561] [ENSMUST00000212798]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000120339
AA Change: P527L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: P527L

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: ENSMUST00000144464

SMART Domains

Protein: ENSMUSP00000115554
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	132	5.7e-58	PFAM
low complexity region	174	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150163

SMART Domains

Protein: ENSMUSP00000118074
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	132	6.8e-58	PFAM
low complexity region	174	194	N/A	INTRINSIC
low complexity region	197	213	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

Meta Mutation Damage Score

0.1295

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pias3	T	A	3: 96,607,013 (GRCm39)		probably null	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably 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
R1218:Inava	UTSW	1	136,142,140 (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'- GTAGGCACAATTAAGAGGCACCCC -3'
(R):5'- GCTCTGAAGACAGTGGCTCTGATG -3'

Sequencing Primer
(F):5'- CCGCAGGACTGTCCTTTAGTG -3'
(R):5'- GACAGTGGCTCTGATGTCTCC -3'

Posted On

2014-04-24