Mutagenetix > Incidental Mutation

Incidental Mutation 'R5411:Naip5'

427498

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

042980-MU

Accession Numbers

Essential gene?

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

Stock #

R5411 (G1)

Quality Score

141

Status

Not validated

Chromosome

Chromosomal Location

100348247-100382831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100382254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 152 (G152S)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049789
AA Change: G152S

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: G152S

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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
Acat1	C	A	9: 53,493,946 (GRCm39)	V392F	probably damaging	Het
Ache	C	T	5: 137,288,326 (GRCm39)	P11S	possibly damaging	Het
Ache	T	A	5: 137,288,692 (GRCm39)		probably null	Het
Acoxl	A	T	2: 127,696,821 (GRCm39)	H23L	probably benign	Het
Adamtsl1	G	A	4: 86,306,650 (GRCm39)		probably null	Het
Adar	T	A	3: 89,646,519 (GRCm39)	F45I	probably benign	Het
Adgrf4	A	C	17: 42,978,104 (GRCm39)	L413R	probably damaging	Het
Atp6v1g3	A	T	1: 138,215,627 (GRCm39)	I96F	probably benign	Het
Brsk2	T	C	7: 141,554,594 (GRCm39)	M653T	probably benign	Het
Cacna1s	G	T	1: 136,033,549 (GRCm39)	V1275L	probably benign	Het
Ces3b	T	C	8: 105,815,264 (GRCm39)	V5A	possibly damaging	Het
Chpt1	A	T	10: 88,312,969 (GRCm39)	I281N	probably damaging	Het
Col10a1	A	G	10: 34,270,553 (GRCm39)	E175G	probably damaging	Het
Col27a1	T	C	4: 63,142,902 (GRCm39)	S197P	probably damaging	Het
Csmd1	T	A	8: 15,960,471 (GRCm39)	R3315W	probably damaging	Het
Ctnna2	T	C	6: 77,091,914 (GRCm39)	E443G	probably damaging	Het
Dhx9	G	T	1: 153,356,969 (GRCm39)	S93R	probably benign	Het
Efcab8	A	G	2: 153,625,676 (GRCm39)	H112R	probably damaging	Het
Eif3d	A	T	15: 77,843,887 (GRCm39)	N486K	probably damaging	Het
Esp8	C	T	17: 40,840,909 (GRCm39)	R57*	probably null	Het
Eya3	A	T	4: 132,417,090 (GRCm39)	I130F	probably damaging	Het
Fat2	G	T	11: 55,143,052 (GRCm39)	L4266I	probably benign	Het
Fras1	T	A	5: 96,793,019 (GRCm39)	D983E	probably benign	Het
Gcc2	T	C	10: 58,106,791 (GRCm39)	S640P	probably damaging	Het
Gys2	C	T	6: 142,394,147 (GRCm39)	G464R	probably damaging	Het
Heatr5a	G	A	12: 51,935,026 (GRCm39)	T1659I	probably damaging	Het
Il17ra	A	G	6: 120,458,403 (GRCm39)	D518G	probably damaging	Het
Kcnk13	A	G	12: 100,027,510 (GRCm39)	Y195C	probably damaging	Het
Kmt2a	T	A	9: 44,759,782 (GRCm39)	H722L	probably damaging	Het
Luzp1	C	A	4: 136,270,653 (GRCm39)	Q959K	possibly damaging	Het
Mep1b	T	A	18: 21,219,306 (GRCm39)	H153Q	probably damaging	Het
Mfsd13b	A	T	7: 120,599,346 (GRCm39)	I381F	probably benign	Het
Mvk	A	G	5: 114,597,034 (GRCm39)	T334A	probably benign	Het
Naa30	T	C	14: 49,425,008 (GRCm39)	V320A	probably damaging	Het
Neb	A	C	2: 52,185,384 (GRCm39)	S949R	probably damaging	Het
Nfya	A	T	17: 48,699,046 (GRCm39)	I214N	possibly damaging	Het
Nsf	G	T	11: 103,773,637 (GRCm39)	N292K	probably damaging	Het
Nup133	T	C	8: 124,653,945 (GRCm39)	T505A	probably benign	Het
Or4c1	A	C	2: 89,133,920 (GRCm39)	S5R	probably benign	Het
Or4p7	A	G	2: 88,221,605 (GRCm39)	T5A	probably benign	Het
Or5h24	T	A	16: 58,919,067 (GRCm39)	H96L	unknown	Het
Or9s23	A	T	1: 92,501,546 (GRCm39)	T218S	probably benign	Het
P4ha3	A	T	7: 99,943,022 (GRCm39)	R136W	probably damaging	Het
Parp12	A	G	6: 39,067,142 (GRCm39)	V550A	probably damaging	Het
Phf11a	T	C	14: 59,532,387 (GRCm39)	D16G	probably benign	Het
Pramel31	T	A	4: 144,088,207 (GRCm39)	M1K	probably null	Het
Rab3gap2	A	G	1: 185,009,342 (GRCm39)		probably null	Het
Sco1	A	G	11: 66,954,784 (GRCm39)	D263G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sfpq	T	A	4: 126,915,516 (GRCm39)	S103T	unknown	Het
Shisa7	G	A	7: 4,832,975 (GRCm39)	R263C	probably damaging	Het
Ssc4d	T	A	5: 135,992,254 (GRCm39)	D144V	probably benign	Het
Stxbp5l	G	A	16: 36,950,213 (GRCm39)	P1044L	probably damaging	Het
Tgm6	G	A	2: 129,987,116 (GRCm39)	R528Q	probably benign	Het
Tlr3	A	T	8: 45,849,992 (GRCm39)	H892Q	probably benign	Het
Tmc2	A	G	2: 130,082,035 (GRCm39)	H406R	probably damaging	Het
Tmtc1	A	T	6: 148,345,397 (GRCm39)		probably null	Het
Ttc19	A	G	11: 62,174,977 (GRCm39)	I139M	probably benign	Het
Utrn	G	A	10: 12,524,929 (GRCm39)	R2185C	probably benign	Het
Wdfy4	T	C	14: 32,681,959 (GRCm39)	N3004S	probably damaging	Het
Wdr3	C	A	3: 100,050,300 (GRCm39)	G746W	probably damaging	Het
Zfp335	T	A	2: 164,744,165 (GRCm39)	Q500L	probably damaging	Het
Zfp804b	A	T	5: 6,820,071 (GRCm39)	D961E	probably benign	Het
Zkscan16	CTTCAGCTTTCA	CTTCA	4: 58,956,745 (GRCm39)		probably null	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
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	100,356,204 (GRCm39)	missense	probably benign	0.00
R7447:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
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	100,356,205 (GRCm39)	missense	not run
R7590:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
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
R8471:Naip5	UTSW	13	100,358,153 (GRCm39)	missense	probably damaging	0.99
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'- AACACTCTTCATCAGTGAATGCTC -3'
(R):5'- TGGGTTTTACCACACAGGGG -3'

Sequencing Primer
(F):5'- TCTTCATCAGTGAATGCTCATTTAC -3'
(R):5'- GAGACTTGGCGTTCAGTGC -3'

Posted On

2016-09-01