Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:Naip5'

617733

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8026 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100245898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 101 (S101I)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably damaging
Transcript: ENSMUST00000049789
AA Change: S101I

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

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: S101I

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,406,725	V513A	probably damaging	Het
Acsf2	C	T	11: 94,562,888	V416M	probably damaging	Het
Adrm1	G	A	2: 180,175,209	A225T	unknown	Het
Aldh9a1	T	C	1: 167,352,667		probably null	Het
Apbb2	T	C	5: 66,451,644	D220G	probably benign	Het
B230118H07Rik	A	T	2: 101,570,644		probably benign	Het
Bace2	T	C	16: 97,436,852	V501A	probably benign	Het
Camsap1	T	C	2: 25,938,202	N1170S	probably benign	Het
Casr	A	G	16: 36,495,617	V697A	probably damaging	Het
Clcn1	T	C	6: 42,307,661		probably null	Het
Cobl	T	C	11: 12,253,459	K1081R	probably benign	Het
Ctr9	T	A	7: 111,033,892	L116I	probably damaging	Het
Dennd4a	T	C	9: 64,873,030	F616S	probably damaging	Het
Dynlt1a	C	T	17: 6,311,814	G30S	possibly damaging	Het
Eif1	T	C	11: 100,320,448	S23P	possibly damaging	Het
Eml6	A	C	11: 29,749,973	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,474,275	I139T	probably benign	Het
Fstl4	A	G	11: 53,068,669	E179G	probably damaging	Het
Fuom	T	C	7: 140,100,154	T95A		Het
Gigyf1	C	T	5: 137,525,478	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,089,746	S66C	probably damaging	Het
Helz2	G	A	2: 181,240,205	T265I	probably benign	Het
Hs6st3	G	T	14: 119,869,556	V459F	probably damaging	Het
Ido2	A	G	8: 24,535,140		probably null	Het
Idua	A	G	5: 108,670,249	I96V	probably benign	Het
Inpp5j	A	G	11: 3,495,171	S494P		Het
Krt19	A	G	11: 100,141,383	V285A	probably damaging	Het
Krt71	T	G	15: 101,738,382	D297A	possibly damaging	Het
L3hypdh	G	A	12: 72,084,949	R70C	probably damaging	Het
Masp1	T	C	16: 23,484,406	Y324C	probably damaging	Het
Mfap2	A	G	4: 141,013,803	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,595,084		probably null	Het
Mroh7	G	A	4: 106,721,437	P15S	probably benign	Het
Muc5b	T	A	7: 141,863,636	C3440S	probably benign	Het
Neb	A	T	2: 52,223,048	Y1066N		Het
Nop56	T	A	2: 130,277,268	C38S	probably benign	Het
Nup214	T	A	2: 32,033,350	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 114,902,268		probably benign	Het
Olfr1242	A	G	2: 89,493,788	F175L	probably damaging	Het
Olfr192	T	C	16: 59,098,368	H208R	unknown	Het
Olfr48	T	C	2: 89,844,929	N15D	probably benign	Het
Olfr66	A	G	7: 103,881,697	V182A	possibly damaging	Het
Olfr68	T	A	7: 103,778,340	I2F	probably benign	Het
Olfr967	T	C	9: 39,750,796	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,576,567	V155I	probably benign	Het
Patz1	A	T	11: 3,307,658	M96L	probably benign	Het
Pcca	A	G	14: 122,638,382	D141G	probably benign	Het
Ptprr	A	G	10: 116,048,170	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,934,712		probably null	Het
Raet1e	A	C	10: 22,181,299	D174A	probably damaging	Het
Rhobtb2	T	G	14: 69,796,765	D337A	probably benign	Het
Sbf2	T	C	7: 110,335,387	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,411,567	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,787,289	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,739,364	R625H	probably benign	Het
Tbxas1	C	T	6: 39,027,896	T359I	probably benign	Het
Trim9	T	A	12: 70,290,387	S309C	probably benign	Het
Ttn	G	A	2: 76,829,139	P12191S	unknown	Het
Unc80	A	G	1: 66,483,304	R222G	possibly damaging	Het
Vmn1r202	A	T	13: 22,502,144	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,717	N251K	probably benign	Het
Vmn2r67	A	T	7: 85,136,716	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,783	F255S	probably benign	Het
Zfp532	T	G	18: 65,625,156	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,617,895	T601A	probably benign	Het
Zfp853	G	T	5: 143,288,525	Q462K	unknown	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
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
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'- CTCAAAGGACTCCAGTCTGG -3'
(R):5'- GCATTTCAGGTGGCAAAGAG -3'

Sequencing Primer
(F):5'- AGGACTCCAGTCTGGCCTCC -3'
(R):5'- CCAAGAAGAAGAAGAGCATAAAGAAC -3'

Posted On

2020-01-23