Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02012:Naip5'

183384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naip5

Ensembl Gene

ENSMUSG00000071203

Gene Name

NLR family, apoptosis inhibitory protein 5

Synonyms

Birc1e, Lgn1, Naip-rs3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL02012

Quality Score

Status

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100223339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 463 (N463S)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably benign
Transcript: ENSMUST00000049789
AA Change: N463S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: N463S

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,674,861 (GRCm38)	N1296S	probably damaging	Het
Adprh	A	T	16: 38,445,852 (GRCm38)	D309E	possibly damaging	Het
AF529169	T	C	9: 89,601,438 (GRCm38)	I635M	probably benign	Het
Armc1	A	T	3: 19,157,537 (GRCm38)	C40S	possibly damaging	Het
BC100530	T	G	16: 36,367,440 (GRCm38)	D21A	possibly damaging	Het
Cops8	T	C	1: 90,612,234 (GRCm38)	V204A	probably damaging	Het
Dchs1	T	G	7: 105,764,297 (GRCm38)	T1104P	probably damaging	Het
Ddi2	A	T	4: 141,708,218 (GRCm38)		probably null	Het
Ehbp1	G	A	11: 22,101,218 (GRCm38)	P420S	probably damaging	Het
Eif1ad	T	G	19: 5,368,659 (GRCm38)	V80G	probably damaging	Het
Fat1	T	C	8: 45,027,540 (GRCm38)	Y3004H	possibly damaging	Het
Fbxo11	C	T	17: 88,012,651 (GRCm38)	R211Q	probably benign	Het
Foxf2	A	G	13: 31,626,516 (GRCm38)	N146S	probably damaging	Het
Fsd2	A	T	7: 81,549,914 (GRCm38)	N334K	probably benign	Het
Gm45234	C	A	6: 124,746,048 (GRCm38)		probably benign	Het
Itpr3	T	A	17: 27,104,095 (GRCm38)	F1157I	probably benign	Het
Jph1	C	A	1: 17,097,414 (GRCm38)	W64L	probably benign	Het
Lmo7	T	C	14: 101,888,716 (GRCm38)		probably benign	Het
Man2a1	T	C	17: 64,666,899 (GRCm38)	I390T	probably damaging	Het
Marveld3	C	T	8: 109,948,132 (GRCm38)	V351M	probably damaging	Het
Mycn	A	G	12: 12,937,103 (GRCm38)	L431P	probably damaging	Het
Npnt	A	G	3: 132,908,397 (GRCm38)	C182R	probably damaging	Het
Obscn	A	G	11: 59,076,507 (GRCm38)	V3068A	probably benign	Het
Pggt1b	A	T	18: 46,262,955 (GRCm38)	S88T	probably benign	Het
Prx	A	G	7: 27,517,901 (GRCm38)	E748G	probably damaging	Het
Scrn3	T	C	2: 73,318,429 (GRCm38)		probably null	Het
Trmt10b	G	A	4: 45,315,045 (GRCm38)	R292H	probably benign	Het
Tuft1	A	G	3: 94,622,155 (GRCm38)		probably benign	Het
Wfdc8	T	C	2: 164,603,150 (GRCm38)		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
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	100,223,375 (GRCm38)	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100,223,394 (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	100,219,696 (GRCm38)	missense	probably benign	0.00
R7447:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
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	100,219,697 (GRCm38)	missense	not run
R7590:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
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
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

Posted On

2014-05-07