Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02183:Naip5'

284292

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 #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100221642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1029 (S1029G)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably benign
Transcript: ENSMUST00000049789
AA Change: S1029G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: S1029G

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378 (GRCm38)	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469 (GRCm38)		probably benign	Het
Acsm4	A	T	7: 119,693,852 (GRCm38)		probably null	Het
Apcdd1	T	C	18: 62,951,854 (GRCm38)	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990 (GRCm38)	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030 (GRCm38)	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486 (GRCm38)	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039 (GRCm38)	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618 (GRCm38)	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740 (GRCm38)	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147 (GRCm38)		probably benign	Het
Dock7	A	T	4: 98,958,991 (GRCm38)	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323 (GRCm38)	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380 (GRCm38)		probably benign	Het
Gm7534	A	G	4: 134,201,980 (GRCm38)	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231 (GRCm38)		probably null	Het
Gprin3	C	A	6: 59,353,162 (GRCm38)	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460 (GRCm38)	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813 (GRCm38)		probably null	Het
Hivep3	A	G	4: 120,132,024 (GRCm38)	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127 (GRCm38)	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146 (GRCm38)	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516 (GRCm38)		probably benign	Het
Ighg2b	A	G	12: 113,307,829 (GRCm38)	S35P	unknown	Het
Jmy	T	C	13: 93,499,242 (GRCm38)	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931 (GRCm38)	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356 (GRCm38)	I134V	unknown	Het
Magi3	T	A	3: 104,085,347 (GRCm38)	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416 (GRCm38)	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231 (GRCm38)		probably benign	Het
Myh7	T	A	14: 54,974,731 (GRCm38)	T1519S	probably benign	Het
Myo5a	T	C	9: 75,167,236 (GRCm38)		probably benign	Het
Olfr1162	T	C	2: 88,049,989 (GRCm38)	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028 (GRCm38)	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413 (GRCm38)	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418 (GRCm38)	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821 (GRCm38)	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141 (GRCm38)		probably benign	Het
Pan2	T	A	10: 128,309,075 (GRCm38)	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284 (GRCm38)	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634 (GRCm38)	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096 (GRCm38)		probably null	Het
Prdm6	T	C	18: 53,464,677 (GRCm38)		probably benign	Het
Prr5l	A	T	2: 101,772,120 (GRCm38)		probably benign	Het
Rab3gap2	T	A	1: 185,271,468 (GRCm38)	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543 (GRCm38)	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605 (GRCm38)	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868 (GRCm38)	D1360E	probably null	Het
Sag	T	C	1: 87,828,475 (GRCm38)		probably null	Het
Scn2a	C	T	2: 65,671,603 (GRCm38)	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611 (GRCm38)		probably benign	Het
Serpinb13	T	C	1: 106,998,910 (GRCm38)	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685 (GRCm38)	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943 (GRCm38)		probably benign	Het
Slitrk3	A	T	3: 73,049,979 (GRCm38)	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659 (GRCm38)	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254 (GRCm38)	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025 (GRCm38)		probably benign	Het
Ubxn7	T	C	16: 32,369,383 (GRCm38)	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004 (GRCm38)	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760 (GRCm38)	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276 (GRCm38)	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574 (GRCm38)	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250 (GRCm38)	I34N	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
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

2015-04-16