Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Naip5'

687087

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: 0.077) question?

Stock #

R9031 (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 A at 100219830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1092 (E1092D)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably benign
Transcript: ENSMUST00000049789
AA Change: E1092D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: E1092D

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: 99.2%

Validation Efficiency

100% (81/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,822,027	R921H	probably benign	Het
Adcy5	A	G	16: 35,299,489	I1123V	probably damaging	Het
Agr2	G	C	12: 35,995,566	G17A	probably benign	Het
Akap6	A	T	12: 53,142,048	T2082S	probably benign	Het
Asxl3	G	T	18: 22,524,344	V1804F	probably damaging	Het
Atat1	A	G	17: 35,909,489	V37A	probably benign	Het
Atp1a3	A	T	7: 24,989,787		probably null	Het
Bpifb1	A	G	2: 154,209,928	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,723,761	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,545,071	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,893,150	M173L	probably benign	Het
Cdhr1	T	C	14: 37,094,019	I141V	probably benign	Het
Chia1	T	C	3: 106,128,461	F206L	probably benign	Het
Clca3a2	C	T	3: 144,805,714	G640E	probably damaging	Het
Clcn7	T	C	17: 25,157,523	V609A	probably damaging	Het
Col22a1	C	A	15: 71,881,674	G126*	probably null	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Ctcfl	A	T	2: 173,117,251	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,073,219	C216*	probably null	Het
Cyp2d12	T	A	15: 82,559,222	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,332,002	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,433,668	M298V	probably benign	Het
Dennd4b	T	C	3: 90,270,881	V471A	probably benign	Het
Dlc1	A	G	8: 36,937,901	S245P	possibly damaging	Het
Dnah1	C	T	14: 31,279,171	G2406S	probably benign	Het
Dnah8	A	G	17: 30,737,427	K2127R	probably damaging	Het
Dusp13	G	A	14: 21,740,165	R38C	probably benign	Het
Ebf2	T	A	14: 67,235,145	I4N	probably benign	Het
Fcgbp	A	G	7: 28,091,483	N723S	possibly damaging	Het
Galnt15	T	A	14: 32,048,070	V368E	probably damaging	Het
Garem2	A	G	5: 30,108,264	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,183	S717N	probably damaging	Het
Gfm2	T	C	13: 97,172,693		probably null	Het
Gm49333	C	T	16: 20,640,625	P570L	probably damaging	Het
Gpr1	T	C	1: 63,183,986	E30G	probably benign	Het
Helb	T	C	10: 120,084,885	D1051G	possibly damaging	Het
Helz2	T	A	2: 181,232,468	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,629,805	V297D	probably damaging	Het
Ifnar1	A	G	16: 91,505,191	Y518C	probably benign	Het
Kcnip2	T	A	19: 45,794,771	D153V	probably damaging	Het
Kif15	A	T	9: 123,017,427		probably benign	Het
Kif21b	T	C	1: 136,145,304	F147L	probably damaging	Het
Klhl29	T	C	12: 5,090,537	R702G	probably damaging	Het
Lemd3	C	T	10: 120,931,973	E667K	possibly damaging	Het
Loxl3	T	C	6: 83,035,522	L14P	probably damaging	Het
Lrrd1	A	T	5: 3,850,963	K423*	probably null	Het
Mia2	A	G	12: 59,108,800	D433G	probably damaging	Het
Mpp2	G	T	11: 102,063,273	A216E	probably benign	Het
Mro	T	C	18: 73,876,840		probably null	Het
Mybpc1	T	G	10: 88,523,044	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,299,315	S1260R	possibly damaging	Het
Myo3b	T	C	2: 70,251,750	V618A	probably damaging	Het
Naip2	T	G	13: 100,178,268	D334A	possibly damaging	Het
Nlrp4c	T	C	7: 6,104,609	*983Q	probably null	Het
Nlrp9a	T	G	7: 26,558,273	F439V	probably damaging	Het
Nploc4	A	T	11: 120,428,542	L64H	probably damaging	Het
Ola1	T	C	2: 73,093,716	E246G	probably benign	Het
Otof	G	A	5: 30,380,188	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,692,359	T2438A	probably damaging	Het
Pex1	A	G	5: 3,636,844	T1242A	probably damaging	Het
Pink1	A	T	4: 138,315,745		probably benign	Het
Prkcq	A	G	2: 11,247,008	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,903,474	Y88*	probably null	Het
Ptpru	A	G	4: 131,788,380	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,687,841	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,332,532		probably benign	Het
Slc4a4	T	C	5: 89,057,709		probably benign	Het
Slc6a18	A	T	13: 73,671,703	N249K	possibly damaging	Het
Slco2b1	T	G	7: 99,689,007	I104L	probably damaging	Het
Syne3	A	T	12: 104,939,612	S897R	probably benign	Het
Tcrg-V4	C	T	13: 19,184,999	Q7*	probably null	Het
Tmem136	C	T	9: 43,111,369	R230Q	probably benign	Het
Tnni3k	A	G	3: 155,038,509	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,053,534	K700E	probably benign	Het
Top3a	T	C	11: 60,745,869	K657E	probably damaging	Het
Trim6	T	C	7: 104,225,952	L132P	probably damaging	Het
Tshz1	T	C	18: 84,014,862	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Vmn1r179	A	T	7: 23,928,809	I142L	probably benign	Het
Zbtb2	A	T	10: 4,369,183	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,412,507	V1812A	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
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

Posted On

2021-11-19