Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Naip5'

376446

Institutional Source

Beutler Lab

Gene Symbol

Naip5

Ensembl Gene

ENSMUSG00000071203

Gene Name

NLR family, apoptosis inhibitory protein 5

Synonyms

Birc1e, Lgn1, Naip-rs3

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R4869 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100245131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 210 (G210E)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049789]

AlphaFold

Q9R016

Predicted Effect

probably damaging
Transcript: ENSMUST00000049789
AA Change: G210E

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

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: G210E

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
BIR	58	129	1.08e-19	SMART
BIR	157	229	1.06e-36	SMART
BIR	276	347	2.14e-32	SMART
Pfam:NACHT	464	618	1.7e-36	PFAM
low complexity region	851	862	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

MGI Phenotype

PHENOTYPE: This locus controls resistance to Legionella pneumophila, the organism responsible for Legionnaire's disease. Cultured peritoneal macrophages from A/J mice are susceptible, supporting bacterial proliferation; other strains, e.g., C57BL/6 are resistant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,254,205	K943N	probably damaging	Het
Abca13	G	A	11: 9,315,434		probably null	Het
Ankub1	A	G	3: 57,690,330	L73P	probably damaging	Het
Birc6	A	G	17: 74,586,012	I982V	probably benign	Het
Cabyr	G	T	18: 12,751,818	*454L	probably null	Het
Ccdc57	C	T	11: 120,903,518		probably null	Het
Cd209c	A	G	8: 3,944,077	F128L	probably benign	Het
Cdh23	A	T	10: 60,376,934	I1566N	probably damaging	Het
Cdon	T	C	9: 35,452,904	V106A	possibly damaging	Het
Cebpa	G	T	7: 35,119,821	G135C	probably damaging	Het
Cfap65	A	G	1: 74,919,261	S896P	probably benign	Het
Ciz1	T	C	2: 32,364,235	S63P	probably damaging	Het
Clybl	G	A	14: 122,384,206	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,952,994	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,428,673		probably null	Het
Cyp2d10	G	A	15: 82,403,766	R379C	probably benign	Het
Dab2ip	C	A	2: 35,720,037	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dock1	A	T	7: 134,734,071	I65F	probably damaging	Het
Ercc2	T	C	7: 19,386,807	V155A	probably damaging	Het
Exph5	A	C	9: 53,376,239	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,377,477	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,862,731	A517E	probably damaging	Het
Furin	A	T	7: 80,396,979	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,792,459		probably benign	Het
Gabrg2	A	T	11: 41,920,404	S305T	probably damaging	Het
Gas6	G	T	8: 13,475,086	S299R	possibly damaging	Het
Gga3	G	T	11: 115,586,285		probably benign	Het
Gle1	A	G	2: 29,936,020	E37G	possibly damaging	Het
Gm6614	T	C	6: 141,987,766	D431G	probably damaging	Het
Gm7964	A	G	7: 83,756,142	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204		probably null	Het
Grid2	G	T	6: 64,429,740	G695W	probably damaging	Het
H2-M10.6	A	T	17: 36,812,533	M40L	probably benign	Het
Hectd4	G	T	5: 121,322,672	V905L	possibly damaging	Het
Isyna1	C	A	8: 70,596,762	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,242,032	S933L	probably benign	Het
Knl1	T	C	2: 119,072,351	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,796,398	E351G	probably damaging	Het
Lipo4	C	T	19: 33,501,553		probably null	Het
Llgl1	T	A	11: 60,707,210	L360*	probably null	Het
Map2k5	G	A	9: 63,322,243	R169*	probably null	Het
Muc19	A	T	15: 91,897,716		noncoding transcript	Het
Muc4	G	A	16: 32,754,836		probably benign	Het
Myh4	A	G	11: 67,252,664	E1074G	probably damaging	Het
Nalcn	A	G	14: 123,599,884	S23P	probably benign	Het
Nepro	T	A	16: 44,730,173	M176K	probably damaging	Het
Nlrp6	G	A	7: 140,924,093	C704Y	probably damaging	Het
Notch1	A	G	2: 26,471,179	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,795,582	E133G	possibly damaging	Het
Parp9	T	C	16: 35,956,904	L406S	probably damaging	Het
Peak1	G	T	9: 56,227,592	A155D	probably benign	Het
Piezo1	G	A	8: 122,487,545	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,395,362	V587A	probably benign	Het
Pkn2	A	G	3: 142,803,618	Y722H	probably damaging	Het
Plch2	A	T	4: 154,989,428	I834K	probably benign	Het
Pld1	A	G	3: 28,109,802	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,050,386	S103G	probably benign	Het
Ppl	T	C	16: 5,104,889	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,309,845		probably benign	Het
Prr14l	A	G	5: 32,828,833	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,689,805	K83*	probably null	Het
Rai1	T	C	11: 60,186,762	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,851,109	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,215,021		probably benign	Het
Rif1	T	A	2: 52,093,611		probably benign	Het
Rnf141	A	G	7: 110,825,350	Y101H	probably damaging	Het
Rnf219	A	G	14: 104,478,816	I707T	probably damaging	Het
Rttn	T	A	18: 89,043,014	L1102*	probably null	Het
Sall4	G	A	2: 168,755,717	S401F	probably damaging	Het
Sec11c	T	C	18: 65,801,470	I36T	probably benign	Het
Sel1l	A	G	12: 91,814,054		probably benign	Het
Setd1a	T	C	7: 127,797,604		probably benign	Het
Sez6l2	C	T	7: 126,961,842	P433L	probably benign	Het
Sgf29	T	C	7: 126,649,375		probably benign	Het
Slc47a1	A	G	11: 61,362,694	V305A	probably benign	Het
Sun2	T	C	15: 79,728,386		probably benign	Het
Tecta	T	C	9: 42,375,534	S609G	probably benign	Het
Tex45	G	A	8: 3,487,148	S498N	probably damaging	Het
Tmprss6	T	A	15: 78,443,680		probably null	Het
Tns1	T	C	1: 73,952,615	H968R	probably benign	Het
Tomm34	G	A	2: 164,054,717	A270V	probably damaging	Het
Tpo	T	C	12: 30,103,365	K330R	probably benign	Het
Ttn	T	A	2: 76,712,493	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,680,434	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691	R147H	probably benign	Het
Vps13d	A	G	4: 145,128,042	L2272P	probably damaging	Het
Wdfy3	A	G	5: 101,894,921	L1988P	probably damaging	Het
Wwc2	A	G	8: 47,920,678	F51S	probably damaging	Het
Zfp454	C	T	11: 50,873,153	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,288,293	V473E	probably damaging	Het
Zfp959	A	T	17: 55,897,228	R85S	possibly damaging	Het

Other mutations in Naip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Naip5	APN	13	100246175	nonsense	probably null
IGL00493:Naip5	APN	13	100230771	missense	probably damaging	0.96
IGL01294:Naip5	APN	13	100217080	missense	probably damaging	0.99
IGL01405:Naip5	APN	13	100221945	missense	probably benign	0.11
IGL01568:Naip5	APN	13	100217101	missense	probably benign	0.26
IGL01804:Naip5	APN	13	100221584	missense	probably damaging	1.00
IGL02012:Naip5	APN	13	100223339	missense	probably benign	0.01
IGL02183:Naip5	APN	13	100221642	missense	probably benign	0.41
IGL02449:Naip5	APN	13	100222175	missense	probably benign	0.34
IGL02815:Naip5	APN	13	100222731	missense	probably benign
IGL02992:Naip5	APN	13	100223028	missense	probably damaging	1.00
IGL03027:Naip5	APN	13	100223016	missense	probably benign	0.00
IGL03234:Naip5	APN	13	100212627	missense	probably damaging	1.00
inwood2	UTSW	13	100223014	nonsense	probably null
inwood3	UTSW	13	100221903	nonsense	probably null
Nuchal	UTSW	13	100214663	missense	possibly damaging	0.82
PIT4131001:Naip5	UTSW	13	100219739	missense	probably benign
PIT4131001:Naip5	UTSW	13	100219760	missense	probably benign	0.00
R0001:Naip5	UTSW	13	100214650	critical splice donor site	probably null
R0001:Naip5	UTSW	13	100223114	missense	probably benign
R0462:Naip5	UTSW	13	100221732	missense	probably damaging	1.00
R0636:Naip5	UTSW	13	100219688	missense	probably benign
R0674:Naip5	UTSW	13	100223199	missense	probably benign	0.04
R0764:Naip5	UTSW	13	100217105	missense	probably benign	0.03
R0837:Naip5	UTSW	13	100230743	missense	probably benign
R1179:Naip5	UTSW	13	100219830	missense	probably benign
R1302:Naip5	UTSW	13	100221591	missense	possibly damaging	0.91
R1441:Naip5	UTSW	13	100219717	missense	possibly damaging	0.95
R1513:Naip5	UTSW	13	100222206	missense	probably benign
R1638:Naip5	UTSW	13	100212669	missense	probably damaging	1.00
R1651:Naip5	UTSW	13	100221911	missense	probably benign	0.41
R1707:Naip5	UTSW	13	100242855	missense	probably damaging	1.00
R1835:Naip5	UTSW	13	100223218	nonsense	probably null
R1836:Naip5	UTSW	13	100219687	missense	probably benign	0.18
R1972:Naip5	UTSW	13	100212770	missense	probably damaging	0.98
R2080:Naip5	UTSW	13	100221533	missense	probably damaging	1.00
R2333:Naip5	UTSW	13	100223171	missense	probably damaging	1.00
R2348:Naip5	UTSW	13	100219738	missense	probably benign	0.01
R3055:Naip5	UTSW	13	100221878	missense	probably benign	0.23
R3401:Naip5	UTSW	13	100221903	nonsense	probably null
R3723:Naip5	UTSW	13	100223014	nonsense	probably null
R3775:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4074:Naip5	UTSW	13	100246064	missense	probably damaging	1.00
R4082:Naip5	UTSW	13	100245830	missense	probably damaging	1.00
R4105:Naip5	UTSW	13	100219739	missense	probably benign
R4227:Naip5	UTSW	13	100212768	missense	probably damaging	0.99
R4639:Naip5	UTSW	13	100219830	missense	probably benign
R4640:Naip5	UTSW	13	100219830	missense	probably benign
R4641:Naip5	UTSW	13	100219830	missense	probably benign
R4644:Naip5	UTSW	13	100219830	missense	probably benign
R4645:Naip5	UTSW	13	100219830	missense	probably benign
R4700:Naip5	UTSW	13	100223414	missense	possibly damaging	0.62
R4727:Naip5	UTSW	13	100221870	missense	possibly damaging	0.81
R4729:Naip5	UTSW	13	100222131	missense	possibly damaging	0.75
R4816:Naip5	UTSW	13	100219681	missense	probably benign	0.32
R4816:Naip5	UTSW	13	100219687	missense	probably benign	0.01
R4816:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R5162:Naip5	UTSW	13	100223406	missense	possibly damaging	0.78
R5244:Naip5	UTSW	13	100245662	missense	probably benign	0.08
R5411:Naip5	UTSW	13	100245746	missense	possibly damaging	0.54
R5632:Naip5	UTSW	13	100230662	splice site	probably null
R5760:Naip5	UTSW	13	100242838	missense	probably damaging	1.00
R5916:Naip5	UTSW	13	100222701	missense	probably benign	0.02
R6302:Naip5	UTSW	13	100223166	missense	possibly damaging	0.76
R6304:Naip5	UTSW	13	100223166	missense	possibly damaging	0.76
R6411:Naip5	UTSW	13	100223405	missense	probably benign	0.01
R6474:Naip5	UTSW	13	100214663	missense	possibly damaging	0.82
R6499:Naip5	UTSW	13	100221594	missense	probably benign
R6544:Naip5	UTSW	13	100223144	missense	possibly damaging	0.50
R6827:Naip5	UTSW	13	100245929	missense	possibly damaging	0.48
R6954:Naip5	UTSW	13	100223414	missense	probably damaging	0.99
R7052:Naip5	UTSW	13	100222347	missense	probably benign	0.01
R7138:Naip5	UTSW	13	100219830	missense	probably benign
R7141:Naip5	UTSW	13	100219830	missense	probably benign
R7375:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7375:Naip5	UTSW	13	100219697	missense	not run
R7401:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7401:Naip5	UTSW	13	100219697	missense	not run
R7447:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7447:Naip5	UTSW	13	100219697	missense	not run
R7466:Naip5	UTSW	13	100221986	nonsense	probably null
R7491:Naip5	UTSW	13	100217071	missense	probably benign	0.18
R7559:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7559:Naip5	UTSW	13	100219697	missense	not run
R7562:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7562:Naip5	UTSW	13	100219697	missense	not run
R7588:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7588:Naip5	UTSW	13	100219697	missense	not run
R7589:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7589:Naip5	UTSW	13	100219697	missense	not run
R7590:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100219697	missense	not run
R7742:Naip5	UTSW	13	100219830	missense	probably benign
R7886:Naip5	UTSW	13	100246181	missense	probably benign	0.28
R7996:Naip5	UTSW	13	100221656	missense	probably damaging	1.00
R8026:Naip5	UTSW	13	100245898	missense	probably damaging	1.00
R8046:Naip5	UTSW	13	100222233	missense	probably benign
R8319:Naip5	UTSW	13	100221659	missense	probably benign	0.12
R8471:Naip5	UTSW	13	100221645	missense	probably damaging	0.99
R8480:Naip5	UTSW	13	100222235	missense	probably damaging	1.00
R8496:Naip5	UTSW	13	100212739	missense	probably benign	0.00
R8500:Naip5	UTSW	13	100222712	missense	probably damaging	0.98
R8712:Naip5	UTSW	13	100223096	missense	possibly damaging	0.61
R8780:Naip5	UTSW	13	100219830	missense	probably benign
R8781:Naip5	UTSW	13	100219830	missense	probably benign
R8788:Naip5	UTSW	13	100219830	missense	probably benign
R8817:Naip5	UTSW	13	100212699	missense	probably benign	0.01
R8833:Naip5	UTSW	13	100222934	missense	probably damaging	0.97
R8835:Naip5	UTSW	13	100219830	missense	probably benign
R8958:Naip5	UTSW	13	100217609	nonsense	probably null
R9031:Naip5	UTSW	13	100219830	missense	probably benign
R9032:Naip5	UTSW	13	100219830	missense	probably benign
R9074:Naip5	UTSW	13	100221756	missense	possibly damaging	0.92
R9098:Naip5	UTSW	13	100229619	missense	possibly damaging	0.67
R9204:Naip5	UTSW	13	100222500	missense	probably damaging	1.00
R9223:Naip5	UTSW	13	100227676	missense	probably benign	0.05
R9358:Naip5	UTSW	13	100219830	missense	probably benign
R9389:Naip5	UTSW	13	100219830	missense	probably benign
R9403:Naip5	UTSW	13	100219830	missense	probably benign
R9518:Naip5	UTSW	13	100221859	missense	probably benign
R9568:Naip5	UTSW	13	100219830	missense	probably benign
R9568:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9569:Naip5	UTSW	13	100219830	missense	probably benign
R9569:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9570:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9572:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9581:Naip5	UTSW	13	100214686	missense	probably benign	0.11
R9627:Naip5	UTSW	13	100219830	missense	probably benign
R9725:Naip5	UTSW	13	100222276	missense	possibly damaging	0.94
R9763:Naip5	UTSW	13	100230761	missense	probably damaging	0.99
R9764:Naip5	UTSW	13	100230761	missense	probably damaging	0.99
R9765:Naip5	UTSW	13	100230761	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATGTGGCCCTTTGGTCTC -3'
(R):5'- TACATAGAACAGGCATGCTGG -3'

Sequencing Primer
(F):5'- AATAGCAGCTGTTCTTCCACAGG -3'
(R):5'- AACAGGCATGCTGGAGTCTGTC -3'

Posted On

2016-03-17