Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Naip5'

721941

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: 0.132) question?

Stock #

R9570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100223313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 472 (T472A)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably benign
Transcript: ENSMUST00000049789
AA Change: T472A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: T472A

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: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 40,824,650	T26I	probably benign	Het
Adgrg7	A	G	16: 56,750,450	L405P	probably damaging	Het
AI314180	G	A	4: 58,832,796	R855*	probably null	Het
Ankle1	A	G	8: 71,406,780	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,253,677	D1609E		Het
Anpep	A	G	7: 79,826,913	V772A	probably benign	Het
Anxa8	T	C	14: 34,092,552	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,905,838	F216S	probably damaging	Het
Aplf	T	A	6: 87,663,799	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,640,571	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,208	Y120F		Het
Atg2a	T	A	19: 6,255,719	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,525,988	F743S	probably benign	Het
Best1	A	T	19: 9,992,967	W94R	probably damaging	Het
Catsper3	T	C	13: 55,805,856		probably null	Het
Ccdc80	A	T	16: 45,095,086	E68D	probably benign	Het
Col8a1	T	A	16: 57,628,176	I324F	unknown	Het
Coro1c	G	A	5: 113,865,755	R68*	probably null	Het
Dennd4c	A	G	4: 86,828,971	D1464G	possibly damaging	Het
Dgat2	C	T	7: 99,169,719	V77I	possibly damaging	Het
Ednra	A	C	8: 77,667,332	N378K	possibly damaging	Het
Eml5	A	T	12: 98,815,984	D178E	probably benign	Het
Ethe1	G	T	7: 24,593,811		probably benign	Het
Fgf21	C	T	7: 45,615,170	R46Q	probably damaging	Het
Flt3	C	T	5: 147,372,614	V198M	possibly damaging	Het
Fryl	T	C	5: 73,022,155	N2970D	probably benign	Het
Gm2022	A	G	12: 87,895,764	D132G	unknown	Het
Gtf2e2	T	A	8: 33,762,048	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,265,773	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,546,382	G188R	probably damaging	Het
Gzmc	A	C	14: 56,231,585	S226A	probably benign	Het
Hhatl	A	T	9: 121,784,216	V471D	possibly damaging	Het
Hoxd11	T	C	2: 74,682,468	S26P	possibly damaging	Het
Ighv1-85	A	T	12: 116,000,174	W69R	probably benign	Het
Kcnk3	T	C	5: 30,622,089	L161P	possibly damaging	Het
Klk6	A	G	7: 43,828,543	D113G	probably damaging	Het
Map3k5	A	G	10: 20,000,568	I158V	probably benign	Het
March8	T	A	6: 116,405,678	M434K	probably benign	Het
Mcc	T	C	18: 44,445,858	R828G	probably damaging	Het
Muc4	A	T	16: 32,750,877	T252S	possibly damaging	Het
Nme7	A	G	1: 164,379,392	D282G	probably benign	Het
Npdc1	G	T	2: 25,408,300	A228S	probably benign	Het
Nrbp1	T	A	5: 31,243,928	S49R	probably damaging	Het
Ntan1	T	C	16: 13,819,384	V10A	possibly damaging	Het
Olfr1358	T	C	10: 78,520,250	V214A	probably benign	Het
Olfr518	A	G	7: 108,881,297	V103A	possibly damaging	Het
Olfr66	A	G	7: 103,881,649	V198A	probably benign	Het
Pdcd2l	T	C	7: 34,192,976	D156G	probably benign	Het
Pde11a	A	G	2: 76,046,813	S771P	probably damaging	Het
Pilra	T	A	5: 137,836,080	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,890,697	E1237V		Het
Pkp2	A	T	16: 16,260,414	T507S	possibly damaging	Het
Polm	A	G	11: 5,829,713	Y362H	probably damaging	Het
Pramef8	A	T	4: 143,417,944	M287L	probably benign	Het
Prcd	C	T	11: 116,659,757	S85F	possibly damaging	Het
Prox2	G	A	12: 85,094,992	Q146*	probably null	Het
Ptger1	T	C	8: 83,668,832	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,398,149	E44G	probably damaging	Het
Rai1	A	G	11: 60,185,742	T211A	probably benign	Het
Rgl1	C	A	1: 152,554,331	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,149,890	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,360,529		probably null	Het
Selenon	C	T	4: 134,542,744	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,139,555	H368L	possibly damaging	Het
Slc9c1	A	T	16: 45,560,342	I544L	probably benign	Het
Smarca4	A	G	9: 21,669,553	E993G	probably damaging	Het
Stab1	T	A	14: 31,142,681	I1966F	probably benign	Het
Stard9	G	A	2: 120,704,233	S3657N	probably benign	Het
Tex15	G	A	8: 33,577,281	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,713,734	N264I	possibly damaging	Het
Use1	T	A	8: 71,367,829	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,475,066	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,637,734	I7V	probably benign	Het
Vps8	T	A	16: 21,644,203	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,650,582	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,258,500	T891I	probably benign	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
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
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

Posted On

2022-08-09