Mutagenetix > Incidental Mutation

Incidental Mutation 'R1302:Naip5'

158450

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

039368-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1302 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100221591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1046 (P1046S)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049789
AA Change: P1046S

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: P1046S

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 124,839,868	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,953,276	Y279H	probably damaging	Het
Abcg2	T	A	6: 58,685,817	M548K	probably damaging	Het
Acat1	T	C	9: 53,589,225	D257G	possibly damaging	Het
Adamts4	G	A	1: 171,253,183	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,272,329	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,115,003	G275S	probably damaging	Het
Ascc3	T	A	10: 50,604,794	M1K	probably null	Het
Atf7ip2	T	C	16: 10,240,608	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518	C333*	probably null	Het
Ccdc68	G	A	18: 69,938,962	V37M	probably damaging	Het
Cda	T	A	4: 138,351,191	I87F	probably damaging	Het
Chst1	A	T	2: 92,613,519	D112V	probably damaging	Het
Chtf18	T	C	17: 25,719,158	D967G	probably damaging	Het
Col5a1	A	G	2: 28,005,236	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,149,377	F12V	probably damaging	Het
Ctif	G	T	18: 75,521,678	P259Q	probably benign	Het
Duox1	A	T	2: 122,347,279	I1515F	probably benign	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Flt1	A	G	5: 147,564,240	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,655,538	D516G	probably benign	Het
Gin1	A	T	1: 97,775,589	K46*	probably null	Het
Gle1	C	G	2: 29,952,552		probably null	Het
Gm11146	T	G	16: 77,602,082	I5L	unknown	Het
Gm597	A	T	1: 28,776,340	D870E	probably benign	Het
Gpr153	C	T	4: 152,279,943	T152M	probably damaging	Het
H1foo	A	T	6: 115,947,649	R39*	probably null	Het
Hdlbp	A	T	1: 93,423,385		probably null	Het
Ifi207	A	T	1: 173,735,295	L95Q	possibly damaging	Het
Ikzf3	G	T	11: 98,516,920	P32T	probably benign	Het
Ints10	T	A	8: 68,827,312	V697E	probably damaging	Het
Krt14	A	G	11: 100,203,347	S474P	probably damaging	Het
L3mbtl3	T	A	10: 26,327,769	I388F	unknown	Het
Ldha	A	C	7: 46,847,639	Q7P	probably damaging	Het
Lrwd1	A	G	5: 136,132,413	S232P	probably benign	Het
Med1	G	T	11: 98,157,449	D840E	possibly damaging	Het
Med23	T	A	10: 24,888,422		probably null	Het
Ndufa4l2	A	T	10: 127,515,432	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,194,557	S425P	possibly damaging	Het
Nova1	A	T	12: 46,720,798	H113Q	unknown	Het
Npc1	T	C	18: 12,195,085	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,249,889	H354R	probably benign	Het
Ogfod3	A	G	11: 121,183,474	F250L	probably damaging	Het
Pclo	A	G	5: 14,681,633	D3383G	unknown	Het
Pde1b	T	A	15: 103,527,599	D457E	probably benign	Het
Pkd1	C	G	17: 24,568,236	S581R	probably benign	Het
Pno1	T	A	11: 17,204,545	Q212L	probably benign	Het
Polr3b	C	T	10: 84,632,486	P112L	probably damaging	Het
Pomk	T	A	8: 25,983,074	I284F	probably damaging	Het
Rapgef4	A	T	2: 72,045,160	D119V	probably benign	Het
Rprm	A	T	2: 54,085,153	L51Q	probably benign	Het
Taok3	A	C	5: 117,199,043	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,895,129	S830T	probably benign	Het
Tnfrsf1a	G	A	6: 125,356,916	C44Y	probably damaging	Het
Ubr5	A	T	15: 38,041,479	D235E	possibly damaging	Het
Vapb	C	A	2: 173,771,537	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,738,257	I700V	probably damaging	Het
Wwc1	G	A	11: 35,844,157	R964W	probably damaging	Het
Zfp644	A	T	5: 106,634,899	V1203D	probably 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
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
R4869:Naip5	UTSW	13	100245131	missense	probably damaging	1.00
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'- ATGGCCTTGTGCCTGAGAAGTTCC -3'
(R):5'- AGAGCCCTACCAGACATCAGTGAAG -3'

Sequencing Primer
(F):5'- CTGAGAAGTTCCCTTCATGTAAAGC -3'
(R):5'- TGAAGGGTACTGGAAACTGTC -3'

Posted On

2014-02-18