Mutagenetix > Incidental Mutation

Incidental Mutation 'R9358:Naip5'

708549

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: 0.101) question?

Stock #

R9358 (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: 99.6%
20x: 98.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,681,327 (GRCm38)	K149*	probably null	Het
Ap3m2	G	A	8: 22,790,943 (GRCm38)	S365F	possibly damaging	Het
Apob	T	A	12: 8,010,833 (GRCm38)	I3105K	probably benign	Het
Arfgef3	A	G	10: 18,616,880 (GRCm38)	L1261P	probably damaging	Het
Armc8	A	G	9: 99,568,600 (GRCm38)		probably null	Het
Axin2	A	G	11: 108,924,047 (GRCm38)	T254A	probably benign	Het
BC005561	T	C	5: 104,519,960 (GRCm38)	F783L	possibly damaging	Het
C530008M17Rik	A	T	5: 76,854,989 (GRCm38)	I137F	probably damaging	Het
Cachd1	G	A	4: 100,976,425 (GRCm38)	V800M	probably damaging	Het
Camta1	A	G	4: 151,138,424 (GRCm38)	L892P	probably damaging	Het
Cfap58	C	T	19: 47,974,548 (GRCm38)	R466*	probably null	Het
Cilp	A	G	9: 65,275,987 (GRCm38)	Q391R	probably benign	Het
Ctcfl	T	A	2: 173,118,788 (GRCm38)	M1L	possibly damaging	Het
Dnah14	G	A	1: 181,709,033 (GRCm38)	A2414T	probably benign	Het
Dnah2	A	G	11: 69,515,766 (GRCm38)	L550P	probably damaging	Het
Erich6b	T	A	14: 75,665,228 (GRCm38)	S162T	probably benign	Het
Fbxw7	C	A	3: 84,976,254 (GRCm38)	H578Q		Het
Fer	T	C	17: 63,973,081 (GRCm38)	L418P	possibly damaging	Het
Fndc3b	A	C	3: 27,451,407 (GRCm38)	L904R	possibly damaging	Het
Gabrg1	A	T	5: 70,778,079 (GRCm38)	I249N	possibly damaging	Het
Gbe1	T	A	16: 70,441,239 (GRCm38)	D304E	probably benign	Het
Gm10549	C	T	18: 33,464,322 (GRCm38)	P54S	unknown	Het
Gm13212	A	T	4: 145,623,043 (GRCm38)	Y350F	possibly damaging	Het
Gpatch4	G	T	3: 88,055,145 (GRCm38)	E222*	probably null	Het
Heatr1	A	T	13: 12,418,206 (GRCm38)	T1146S	probably benign	Het
Hrc	A	C	7: 45,336,560 (GRCm38)	E378D	probably benign	Het
Hspg2	G	T	4: 137,517,598 (GRCm38)	R878L	probably damaging	Het
Igkv1-122	A	G	6: 68,016,772 (GRCm38)	M11V	probably benign	Het
Itih3	T	A	14: 30,921,928 (GRCm38)	K75*	probably null	Het
Jag1	A	G	2: 137,083,028 (GRCm38)	V1218A	probably benign	Het
Kif28	C	T	1: 179,736,130 (GRCm38)	D94N	probably benign	Het
Lama2	A	G	10: 27,616,765 (GRCm38)	L11P	unknown	Het
Lama2	G	A	10: 27,188,382 (GRCm38)	T1201M	possibly damaging	Het
Lrfn2	T	C	17: 49,096,502 (GRCm38)	V551A	probably damaging	Het
Lrrc8d	A	G	5: 105,812,492 (GRCm38)	N256S	probably benign	Het
Mindy1	C	T	3: 95,295,279 (GRCm38)	L394F	probably benign	Het
Mon2	A	G	10: 123,032,547 (GRCm38)	S534P	probably benign	Het
Mrps5	T	A	2: 127,595,814 (GRCm38)	I187N	probably benign	Het
Mto1	A	G	9: 78,457,558 (GRCm38)	M360V	probably benign	Het
Muc16	T	G	9: 18,642,224 (GRCm38)	I4258L	probably benign	Het
Myo10	A	G	15: 25,781,434 (GRCm38)	D1005G	possibly damaging	Het
Myo18b	T	A	5: 112,795,403 (GRCm38)	R1645S	possibly damaging	Het
Naip2	A	T	13: 100,161,572 (GRCm38)	V652D	probably damaging	Het
Ncapd2	A	T	6: 125,186,143 (GRCm38)	M134K	probably benign	Het
Nup107	A	G	10: 117,750,963 (GRCm38)	F893S	probably damaging	Het
Olfr1307	A	G	2: 111,945,084 (GRCm38)	V124A	probably benign	Het
Olfr218	A	T	1: 173,204,174 (GRCm38)	R273W	probably damaging	Het
Olfr395	A	T	11: 73,906,625 (GRCm38)	I289N	probably damaging	Het
Olfr488	C	T	7: 108,255,592 (GRCm38)	C182Y	probably damaging	Het
Olfr748	A	G	14: 50,710,345 (GRCm38)	E5G	probably benign	Het
Pcgf1	G	T	6: 83,079,452 (GRCm38)	R124L	probably benign	Het
Pdcd10	A	T	3: 75,541,226 (GRCm38)	N10K	probably damaging	Het
Pdx1	C	T	5: 147,270,254 (GRCm38)	Q6*	probably null	Het
Plcl1	T	C	1: 55,696,651 (GRCm38)	S384P	probably damaging	Het
Serpina1b	T	A	12: 103,728,394 (GRCm38)	T364S	possibly damaging	Het
Slc5a11	C	T	7: 123,258,552 (GRCm38)	T288I	probably damaging	Het
Slc6a1	A	T	6: 114,314,310 (GRCm38)	S515C	probably damaging	Het
Snca	A	T	6: 60,733,137 (GRCm38)	D119E	probably benign	Het
Sorcs2	T	C	5: 36,043,470 (GRCm38)	D578G	probably damaging	Het
Sulf1	T	A	1: 12,820,505 (GRCm38)	L389Q	probably damaging	Het
Tln1	A	C	4: 43,532,084 (GRCm38)	I2501S	possibly damaging	Het
Tmem191c	A	G	16: 17,276,393 (GRCm38)	E27G	probably damaging	Het
Tmem200a	G	T	10: 25,993,779 (GRCm38)	N197K	probably benign	Het
Tmem207	A	T	16: 26,526,684 (GRCm38)	S11T	probably benign	Het
Ttn	T	C	2: 76,734,609 (GRCm38)	T28425A	probably damaging	Het
Ush2a	C	T	1: 188,874,950 (GRCm38)	T4014M	probably benign	Het
Vac14	G	A	8: 110,712,747 (GRCm38)		probably null	Het
Vmn2r32	A	T	7: 7,474,198 (GRCm38)	I398K	probably damaging	Het
Vmn2r77	A	T	7: 86,803,028 (GRCm38)	H472L	probably benign	Het
Vps45	C	T	3: 96,033,664 (GRCm38)		probably null	Het
Wdr26	T	C	1: 181,191,858 (GRCm38)	H334R	probably damaging	Het
Zmynd10	A	G	9: 107,549,050 (GRCm38)	D132G	possibly damaging	Het
Zpbp2	A	G	11: 98,553,948 (GRCm38)	T123A	probably benign	Het

Other mutations in Naip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Naip5	APN	13	100,246,175 (GRCm38)	nonsense	probably null
IGL00493:Naip5	APN	13	100,230,771 (GRCm38)	missense	probably damaging	0.96
IGL01294:Naip5	APN	13	100,217,080 (GRCm38)	missense	probably damaging	0.99
IGL01405:Naip5	APN	13	100,221,945 (GRCm38)	missense	probably benign	0.11
IGL01568:Naip5	APN	13	100,217,101 (GRCm38)	missense	probably benign	0.26
IGL01804:Naip5	APN	13	100,221,584 (GRCm38)	missense	probably damaging	1.00
IGL02012:Naip5	APN	13	100,223,339 (GRCm38)	missense	probably benign	0.01
IGL02183:Naip5	APN	13	100,221,642 (GRCm38)	missense	probably benign	0.41
IGL02449:Naip5	APN	13	100,222,175 (GRCm38)	missense	probably benign	0.34
IGL02815:Naip5	APN	13	100,222,731 (GRCm38)	missense	probably benign
IGL02992:Naip5	APN	13	100,223,028 (GRCm38)	missense	probably damaging	1.00
IGL03027:Naip5	APN	13	100,223,016 (GRCm38)	missense	probably benign	0.00
IGL03234:Naip5	APN	13	100,212,627 (GRCm38)	missense	probably damaging	1.00
inwood2	UTSW	13	100,223,014 (GRCm38)	nonsense	probably null
inwood3	UTSW	13	100,221,903 (GRCm38)	nonsense	probably null
Nuchal	UTSW	13	100,214,663 (GRCm38)	missense	possibly damaging	0.82
PIT4131001:Naip5	UTSW	13	100,219,760 (GRCm38)	missense	probably benign	0.00
PIT4131001:Naip5	UTSW	13	100,219,739 (GRCm38)	missense	probably benign
R0001:Naip5	UTSW	13	100,223,114 (GRCm38)	missense	probably benign
R0001:Naip5	UTSW	13	100,214,650 (GRCm38)	critical splice donor site	probably null
R0462:Naip5	UTSW	13	100,221,732 (GRCm38)	missense	probably damaging	1.00
R0636:Naip5	UTSW	13	100,219,688 (GRCm38)	missense	probably benign
R0674:Naip5	UTSW	13	100,223,199 (GRCm38)	missense	probably benign	0.04
R0764:Naip5	UTSW	13	100,217,105 (GRCm38)	missense	probably benign	0.03
R0837:Naip5	UTSW	13	100,230,743 (GRCm38)	missense	probably benign
R1179:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R1302:Naip5	UTSW	13	100,221,591 (GRCm38)	missense	possibly damaging	0.91
R1441:Naip5	UTSW	13	100,219,717 (GRCm38)	missense	possibly damaging	0.95
R1513:Naip5	UTSW	13	100,222,206 (GRCm38)	missense	probably benign
R1638:Naip5	UTSW	13	100,212,669 (GRCm38)	missense	probably damaging	1.00
R1651:Naip5	UTSW	13	100,221,911 (GRCm38)	missense	probably benign	0.41
R1707:Naip5	UTSW	13	100,242,855 (GRCm38)	missense	probably damaging	1.00
R1835:Naip5	UTSW	13	100,223,218 (GRCm38)	nonsense	probably null
R1836:Naip5	UTSW	13	100,219,687 (GRCm38)	missense	probably benign	0.18
R1972:Naip5	UTSW	13	100,212,770 (GRCm38)	missense	probably damaging	0.98
R2080:Naip5	UTSW	13	100,221,533 (GRCm38)	missense	probably damaging	1.00
R2333:Naip5	UTSW	13	100,223,171 (GRCm38)	missense	probably damaging	1.00
R2348:Naip5	UTSW	13	100,219,738 (GRCm38)	missense	probably benign	0.01
R3055:Naip5	UTSW	13	100,221,878 (GRCm38)	missense	probably benign	0.23
R3401:Naip5	UTSW	13	100,221,903 (GRCm38)	nonsense	probably null
R3723:Naip5	UTSW	13	100,223,014 (GRCm38)	nonsense	probably null
R3775:Naip5	UTSW	13	100,223,394 (GRCm38)	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100,223,375 (GRCm38)	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100,223,375 (GRCm38)	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100,223,394 (GRCm38)	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100,223,394 (GRCm38)	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100,223,375 (GRCm38)	missense	probably benign	0.00
R4074:Naip5	UTSW	13	100,246,064 (GRCm38)	missense	probably damaging	1.00
R4082:Naip5	UTSW	13	100,245,830 (GRCm38)	missense	probably damaging	1.00
R4105:Naip5	UTSW	13	100,219,739 (GRCm38)	missense	probably benign
R4227:Naip5	UTSW	13	100,212,768 (GRCm38)	missense	probably damaging	0.99
R4639:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R4640:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R4641:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R4644:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R4645:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R4700:Naip5	UTSW	13	100,223,414 (GRCm38)	missense	possibly damaging	0.62
R4727:Naip5	UTSW	13	100,221,870 (GRCm38)	missense	possibly damaging	0.81
R4729:Naip5	UTSW	13	100,222,131 (GRCm38)	missense	possibly damaging	0.75
R4816:Naip5	UTSW	13	100,219,681 (GRCm38)	missense	probably benign	0.32
R4816:Naip5	UTSW	13	100,219,687 (GRCm38)	missense	probably benign	0.01
R4816:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R4869:Naip5	UTSW	13	100,245,131 (GRCm38)	missense	probably damaging	1.00
R5162:Naip5	UTSW	13	100,223,406 (GRCm38)	missense	possibly damaging	0.78
R5244:Naip5	UTSW	13	100,245,662 (GRCm38)	missense	probably benign	0.08
R5411:Naip5	UTSW	13	100,245,746 (GRCm38)	missense	possibly damaging	0.54
R5632:Naip5	UTSW	13	100,230,662 (GRCm38)	splice site	probably null
R5760:Naip5	UTSW	13	100,242,838 (GRCm38)	missense	probably damaging	1.00
R5916:Naip5	UTSW	13	100,222,701 (GRCm38)	missense	probably benign	0.02
R6302:Naip5	UTSW	13	100,223,166 (GRCm38)	missense	possibly damaging	0.76
R6304:Naip5	UTSW	13	100,223,166 (GRCm38)	missense	possibly damaging	0.76
R6411:Naip5	UTSW	13	100,223,405 (GRCm38)	missense	probably benign	0.01
R6474:Naip5	UTSW	13	100,214,663 (GRCm38)	missense	possibly damaging	0.82
R6499:Naip5	UTSW	13	100,221,594 (GRCm38)	missense	probably benign
R6544:Naip5	UTSW	13	100,223,144 (GRCm38)	missense	possibly damaging	0.50
R6827:Naip5	UTSW	13	100,245,929 (GRCm38)	missense	possibly damaging	0.48
R6954:Naip5	UTSW	13	100,223,414 (GRCm38)	missense	probably damaging	0.99
R7052:Naip5	UTSW	13	100,222,347 (GRCm38)	missense	probably benign	0.01
R7138:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R7141:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R7375:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7375:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7401:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7401:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7447:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7447:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7466:Naip5	UTSW	13	100,221,986 (GRCm38)	nonsense	probably null
R7491:Naip5	UTSW	13	100,217,071 (GRCm38)	missense	probably benign	0.18
R7559:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7559:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7562:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7562:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7588:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7588:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7589:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7589:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
R7742:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R7886:Naip5	UTSW	13	100,246,181 (GRCm38)	missense	probably benign	0.28
R7996:Naip5	UTSW	13	100,221,656 (GRCm38)	missense	probably damaging	1.00
R8026:Naip5	UTSW	13	100,245,898 (GRCm38)	missense	probably damaging	1.00
R8046:Naip5	UTSW	13	100,222,233 (GRCm38)	missense	probably benign
R8319:Naip5	UTSW	13	100,221,659 (GRCm38)	missense	probably benign	0.12
R8471:Naip5	UTSW	13	100,221,645 (GRCm38)	missense	probably damaging	0.99
R8480:Naip5	UTSW	13	100,222,235 (GRCm38)	missense	probably damaging	1.00
R8496:Naip5	UTSW	13	100,212,739 (GRCm38)	missense	probably benign	0.00
R8500:Naip5	UTSW	13	100,222,712 (GRCm38)	missense	probably damaging	0.98
R8712:Naip5	UTSW	13	100,223,096 (GRCm38)	missense	possibly damaging	0.61
R8780:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R8781:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R8788:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R8817:Naip5	UTSW	13	100,212,699 (GRCm38)	missense	probably benign	0.01
R8833:Naip5	UTSW	13	100,222,934 (GRCm38)	missense	probably damaging	0.97
R8835:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R8958:Naip5	UTSW	13	100,217,609 (GRCm38)	nonsense	probably null
R9031:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9032:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9074:Naip5	UTSW	13	100,221,756 (GRCm38)	missense	possibly damaging	0.92
R9098:Naip5	UTSW	13	100,229,619 (GRCm38)	missense	possibly damaging	0.67
R9204:Naip5	UTSW	13	100,222,500 (GRCm38)	missense	probably damaging	1.00
R9223:Naip5	UTSW	13	100,227,676 (GRCm38)	missense	probably benign	0.05
R9389:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9403:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9518:Naip5	UTSW	13	100,221,859 (GRCm38)	missense	probably benign
R9568:Naip5	UTSW	13	100,223,313 (GRCm38)	missense	probably benign	0.00
R9568:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9569:Naip5	UTSW	13	100,223,313 (GRCm38)	missense	probably benign	0.00
R9569:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9570:Naip5	UTSW	13	100,223,313 (GRCm38)	missense	probably benign	0.00
R9572:Naip5	UTSW	13	100,223,313 (GRCm38)	missense	probably benign	0.00
R9581:Naip5	UTSW	13	100,214,686 (GRCm38)	missense	probably benign	0.11
R9627:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9725:Naip5	UTSW	13	100,222,276 (GRCm38)	missense	possibly damaging	0.94
R9763:Naip5	UTSW	13	100,230,761 (GRCm38)	missense	probably damaging	0.99
R9764:Naip5	UTSW	13	100,230,761 (GRCm38)	missense	probably damaging	0.99
R9765:Naip5	UTSW	13	100,230,761 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

Posted On

2022-04-18