Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Naip5'

711360

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 #

R9403 (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: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299 (GRCm38)	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941 (GRCm38)	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972 (GRCm38)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646 (GRCm38)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198 (GRCm38)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927 (GRCm38)	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396 (GRCm38)	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071 (GRCm38)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090 (GRCm38)	V8A		Het
Fbn2	T	C	18: 58,066,107 (GRCm38)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793 (GRCm38)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,520,148 (GRCm38)	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256 (GRCm38)	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729 (GRCm38)	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381 (GRCm38)	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660 (GRCm38)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077 (GRCm38)	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177 (GRCm38)	V284A		Het
Maml2	C	T	9: 13,621,673 (GRCm38)	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970 (GRCm38)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm38)		probably null	Het
Muc16	A	G	9: 18,537,764 (GRCm38)		probably null	Het
Mylk	C	A	16: 34,875,642 (GRCm38)	S249*	probably null	Het
Naa35	G	A	13: 59,601,003 (GRCm38)	A150T	possibly damaging	Het
Nup205	G	A	6: 35,199,974 (GRCm38)	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695 (GRCm38)	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449 (GRCm38)	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532 (GRCm38)	I26V	probably benign	Het
Polq	T	C	16: 37,061,853 (GRCm38)	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258 (GRCm38)	S348P		Het
Qsox1	A	G	1: 155,782,597 (GRCm38)	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854 (GRCm38)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042 (GRCm38)	H22N	probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573 (GRCm38)		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575 (GRCm38)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570 (GRCm38)		probably benign	Het
Slc2a3	A	C	6: 122,736,610 (GRCm38)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641 (GRCm38)	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523 (GRCm38)	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772 (GRCm38)	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576 (GRCm38)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652 (GRCm38)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997 (GRCm38)	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778 (GRCm38)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824 (GRCm38)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259 (GRCm38)	F313S	possibly damaging	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
R9358:Naip5	UTSW	13	100,219,830 (GRCm38)	missense	probably benign
R9389: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

2022-05-16