Mutagenetix > Incidental Mutation

Incidental Mutation 'R8471:Naip5'

657040

Institutional Source

Beutler Lab

Gene Symbol

Naip5

Ensembl Gene

ENSMUSG00000071203

Gene Name

NLR family, apoptosis inhibitory protein 5

Synonyms

Birc1e, Naip-rs3, Lgn1

MMRRC Submission

067915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R8471 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100348247-100382831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100358153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1028 (Q1028K)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably damaging
Transcript: ENSMUST00000049789
AA Change: Q1028K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: Q1028K

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: 98.8%

Validation Efficiency

100% (36/36)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,223 (GRCm39)	C200S	probably damaging	Het
Abca1	G	A	4: 53,044,187 (GRCm39)	H1812Y	probably damaging	Het
Adgrv1	T	A	13: 81,594,591 (GRCm39)	D4141V	probably benign	Het
Arhgef38	A	T	3: 132,940,472 (GRCm39)	V38E	probably damaging	Het
Arl15	T	A	13: 114,037,632 (GRCm39)		probably benign	Het
Cwh43	T	A	5: 73,591,644 (GRCm39)	L493Q	probably damaging	Het
Dnah7b	C	T	1: 46,138,650 (GRCm39)	H231Y	possibly damaging	Het
Eif2d	C	A	1: 131,092,155 (GRCm39)	Q309K	probably benign	Het
Epop	A	G	11: 97,520,073 (GRCm39)	V12A	possibly damaging	Het
Fkbp5	C	T	17: 28,634,943 (GRCm39)	V189I	probably benign	Het
Ikzf2	T	C	1: 69,578,499 (GRCm39)	M343V	probably benign	Het
Kdm5a	T	A	6: 120,407,192 (GRCm39)	L1469*	probably null	Het
Man2b2	A	T	5: 36,979,183 (GRCm39)	W286R	probably damaging	Het
Nlrp1a	T	A	11: 71,013,885 (GRCm39)	D455V	possibly damaging	Het
Or10ag60	A	G	2: 87,437,989 (GRCm39)	R86G	probably damaging	Het
Or10d5b	A	G	9: 39,885,901 (GRCm39)	S73P	unknown	Het
Or1e32	A	T	11: 73,705,309 (GRCm39)	F200I	probably benign	Het
Or5af1	A	G	11: 58,722,597 (GRCm39)	M206V	probably benign	Het
Pcdh12	G	A	18: 38,415,308 (GRCm39)	P606S	probably benign	Het
Plec	A	G	15: 76,070,620 (GRCm39)	V894A	probably damaging	Het
Ppp4r3a	T	C	12: 101,021,901 (GRCm39)	N333S	probably benign	Het
Ptger4	A	T	15: 5,271,800 (GRCm39)	M273K	probably damaging	Het
Pzp	T	C	6: 128,464,411 (GRCm39)	D1372G	probably benign	Het
Rai14	T	C	15: 10,575,245 (GRCm39)	K571R	probably benign	Het
Rarb	T	A	14: 16,548,456 (GRCm38)		probably benign	Het
Ros1	A	G	10: 51,997,078 (GRCm39)	V1198A	probably benign	Het
Ryr3	A	G	2: 112,484,125 (GRCm39)	V3879A	probably damaging	Het
Serpinb6d	A	T	13: 33,848,137 (GRCm39)	I34F	probably damaging	Het
Slc44a2	T	G	9: 21,253,265 (GRCm39)	I62S	probably null	Het
Snx9	T	A	17: 5,940,365 (GRCm39)	W39R	probably damaging	Het
Tbcb	A	T	7: 29,931,100 (GRCm39)	S7T	probably benign	Het
Ttc21a	C	A	9: 119,792,242 (GRCm39)		probably null	Het
Ttc7	G	A	17: 87,601,454 (GRCm39)	G63R	probably benign	Het
Zdhhc3	A	T	9: 122,929,440 (GRCm39)	V65D	probably damaging	Het
Zfp518b	T	C	5: 38,831,426 (GRCm39)	Y193C	probably damaging	Het
Zw10	T	A	9: 48,982,914 (GRCm39)	I515N	probably damaging	Het

Other mutations in Naip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Naip5	APN	13	100,382,683 (GRCm39)	nonsense	probably null
IGL00493:Naip5	APN	13	100,367,279 (GRCm39)	missense	probably damaging	0.96
IGL01294:Naip5	APN	13	100,353,588 (GRCm39)	missense	probably damaging	0.99
IGL01405:Naip5	APN	13	100,358,453 (GRCm39)	missense	probably benign	0.11
IGL01568:Naip5	APN	13	100,353,609 (GRCm39)	missense	probably benign	0.26
IGL01804:Naip5	APN	13	100,358,092 (GRCm39)	missense	probably damaging	1.00
IGL02012:Naip5	APN	13	100,359,847 (GRCm39)	missense	probably benign	0.01
IGL02183:Naip5	APN	13	100,358,150 (GRCm39)	missense	probably benign	0.41
IGL02449:Naip5	APN	13	100,358,683 (GRCm39)	missense	probably benign	0.34
IGL02815:Naip5	APN	13	100,359,239 (GRCm39)	missense	probably benign
IGL02992:Naip5	APN	13	100,359,536 (GRCm39)	missense	probably damaging	1.00
IGL03027:Naip5	APN	13	100,359,524 (GRCm39)	missense	probably benign	0.00
IGL03234:Naip5	APN	13	100,349,135 (GRCm39)	missense	probably damaging	1.00
inwood2	UTSW	13	100,359,522 (GRCm39)	nonsense	probably null
inwood3	UTSW	13	100,358,411 (GRCm39)	nonsense	probably null
Nuchal	UTSW	13	100,351,171 (GRCm39)	missense	possibly damaging	0.82
PIT4131001:Naip5	UTSW	13	100,356,268 (GRCm39)	missense	probably benign	0.00
PIT4131001:Naip5	UTSW	13	100,356,247 (GRCm39)	missense	probably benign
R0001:Naip5	UTSW	13	100,359,622 (GRCm39)	missense	probably benign
R0001:Naip5	UTSW	13	100,351,158 (GRCm39)	critical splice donor site	probably null
R0462:Naip5	UTSW	13	100,358,240 (GRCm39)	missense	probably damaging	1.00
R0636:Naip5	UTSW	13	100,356,196 (GRCm39)	missense	probably benign
R0674:Naip5	UTSW	13	100,359,707 (GRCm39)	missense	probably benign	0.04
R0764:Naip5	UTSW	13	100,353,613 (GRCm39)	missense	probably benign	0.03
R0837:Naip5	UTSW	13	100,367,251 (GRCm39)	missense	probably benign
R1179:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R1302:Naip5	UTSW	13	100,358,099 (GRCm39)	missense	possibly damaging	0.91
R1441:Naip5	UTSW	13	100,356,225 (GRCm39)	missense	possibly damaging	0.95
R1513:Naip5	UTSW	13	100,358,714 (GRCm39)	missense	probably benign
R1638:Naip5	UTSW	13	100,349,177 (GRCm39)	missense	probably damaging	1.00
R1651:Naip5	UTSW	13	100,358,419 (GRCm39)	missense	probably benign	0.41
R1707:Naip5	UTSW	13	100,379,363 (GRCm39)	missense	probably damaging	1.00
R1835:Naip5	UTSW	13	100,359,726 (GRCm39)	nonsense	probably null
R1836:Naip5	UTSW	13	100,356,195 (GRCm39)	missense	probably benign	0.18
R1972:Naip5	UTSW	13	100,349,278 (GRCm39)	missense	probably damaging	0.98
R2080:Naip5	UTSW	13	100,358,041 (GRCm39)	missense	probably damaging	1.00
R2333:Naip5	UTSW	13	100,359,679 (GRCm39)	missense	probably damaging	1.00
R2348:Naip5	UTSW	13	100,356,246 (GRCm39)	missense	probably benign	0.01
R3055:Naip5	UTSW	13	100,358,386 (GRCm39)	missense	probably benign	0.23
R3401:Naip5	UTSW	13	100,358,411 (GRCm39)	nonsense	probably null
R3723:Naip5	UTSW	13	100,359,522 (GRCm39)	nonsense	probably null
R3775:Naip5	UTSW	13	100,359,902 (GRCm39)	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100,359,883 (GRCm39)	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100,359,883 (GRCm39)	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100,359,902 (GRCm39)	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100,359,902 (GRCm39)	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100,359,883 (GRCm39)	missense	probably benign	0.00
R4074:Naip5	UTSW	13	100,382,572 (GRCm39)	missense	probably damaging	1.00
R4082:Naip5	UTSW	13	100,382,338 (GRCm39)	missense	probably damaging	1.00
R4105:Naip5	UTSW	13	100,356,247 (GRCm39)	missense	probably benign
R4227:Naip5	UTSW	13	100,349,276 (GRCm39)	missense	probably damaging	0.99
R4639:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4640:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4641:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4644:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4645:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4700:Naip5	UTSW	13	100,359,922 (GRCm39)	missense	possibly damaging	0.62
R4727:Naip5	UTSW	13	100,358,378 (GRCm39)	missense	possibly damaging	0.81
R4729:Naip5	UTSW	13	100,358,639 (GRCm39)	missense	possibly damaging	0.75
R4816:Naip5	UTSW	13	100,356,189 (GRCm39)	missense	probably benign	0.32
R4816:Naip5	UTSW	13	100,356,195 (GRCm39)	missense	probably benign	0.01
R4816:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R4869:Naip5	UTSW	13	100,381,639 (GRCm39)	missense	probably damaging	1.00
R5162:Naip5	UTSW	13	100,359,914 (GRCm39)	missense	possibly damaging	0.78
R5244:Naip5	UTSW	13	100,382,170 (GRCm39)	missense	probably benign	0.08
R5411:Naip5	UTSW	13	100,382,254 (GRCm39)	missense	possibly damaging	0.54
R5632:Naip5	UTSW	13	100,367,170 (GRCm39)	splice site	probably null
R5760:Naip5	UTSW	13	100,379,346 (GRCm39)	missense	probably damaging	1.00
R5916:Naip5	UTSW	13	100,359,209 (GRCm39)	missense	probably benign	0.02
R6302:Naip5	UTSW	13	100,359,674 (GRCm39)	missense	possibly damaging	0.76
R6304:Naip5	UTSW	13	100,359,674 (GRCm39)	missense	possibly damaging	0.76
R6411:Naip5	UTSW	13	100,359,913 (GRCm39)	missense	probably benign	0.01
R6474:Naip5	UTSW	13	100,351,171 (GRCm39)	missense	possibly damaging	0.82
R6499:Naip5	UTSW	13	100,358,102 (GRCm39)	missense	probably benign
R6544:Naip5	UTSW	13	100,359,652 (GRCm39)	missense	possibly damaging	0.50
R6827:Naip5	UTSW	13	100,382,437 (GRCm39)	missense	possibly damaging	0.48
R6954:Naip5	UTSW	13	100,359,922 (GRCm39)	missense	probably damaging	0.99
R7052:Naip5	UTSW	13	100,358,855 (GRCm39)	missense	probably benign	0.01
R7138:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R7141:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R7375:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7375:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7401:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7401:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7447:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7447:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7466:Naip5	UTSW	13	100,358,494 (GRCm39)	nonsense	probably null
R7491:Naip5	UTSW	13	100,353,579 (GRCm39)	missense	probably benign	0.18
R7559:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7559:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7562:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7562:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7588:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7588:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7589:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7589:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7742:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R7886:Naip5	UTSW	13	100,382,689 (GRCm39)	missense	probably benign	0.28
R7996:Naip5	UTSW	13	100,358,164 (GRCm39)	missense	probably damaging	1.00
R8026:Naip5	UTSW	13	100,382,406 (GRCm39)	missense	probably damaging	1.00
R8046:Naip5	UTSW	13	100,358,741 (GRCm39)	missense	probably benign
R8319:Naip5	UTSW	13	100,358,167 (GRCm39)	missense	probably benign	0.12
R8480:Naip5	UTSW	13	100,358,743 (GRCm39)	missense	probably damaging	1.00
R8496:Naip5	UTSW	13	100,349,247 (GRCm39)	missense	probably benign	0.00
R8500:Naip5	UTSW	13	100,359,220 (GRCm39)	missense	probably damaging	0.98
R8712:Naip5	UTSW	13	100,359,604 (GRCm39)	missense	possibly damaging	0.61
R8780:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8781:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8788:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8817:Naip5	UTSW	13	100,349,207 (GRCm39)	missense	probably benign	0.01
R8833:Naip5	UTSW	13	100,359,442 (GRCm39)	missense	probably damaging	0.97
R8835:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8958:Naip5	UTSW	13	100,354,117 (GRCm39)	nonsense	probably null
R9031:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9032:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9074:Naip5	UTSW	13	100,358,264 (GRCm39)	missense	possibly damaging	0.92
R9098:Naip5	UTSW	13	100,366,127 (GRCm39)	missense	possibly damaging	0.67
R9204:Naip5	UTSW	13	100,359,008 (GRCm39)	missense	probably damaging	1.00
R9223:Naip5	UTSW	13	100,364,184 (GRCm39)	missense	probably benign	0.05
R9358:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9389:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9403:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9518:Naip5	UTSW	13	100,358,367 (GRCm39)	missense	probably benign
R9568:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9568:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9569:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9569:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9570:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9572:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9581:Naip5	UTSW	13	100,351,194 (GRCm39)	missense	probably benign	0.11
R9627:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9725:Naip5	UTSW	13	100,358,784 (GRCm39)	missense	possibly damaging	0.94
R9763:Naip5	UTSW	13	100,367,269 (GRCm39)	missense	probably damaging	0.99
R9764:Naip5	UTSW	13	100,367,269 (GRCm39)	missense	probably damaging	0.99
R9765:Naip5	UTSW	13	100,367,269 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTCTGAGACCTCGAGAGACTG -3'
(R):5'- CCTTTGAGCATATAAGTGAATGGAGG -3'

Sequencing Primer
(F):5'- ACCTCGAGAGACTGCAGGG -3'
(R):5'- TGAATGGAGGAGAAATTTTGCTC -3'

Posted On

2021-01-18