Mutagenetix > Incidental Mutation

Incidental Mutation 'R0636:Naip5'

56707

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

038825-MU

Accession Numbers

Essential gene?

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

Stock #

R0636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100348247-100382831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100356196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1140 (T1140A)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably benign
Transcript: ENSMUST00000049789
AA Change: T1140A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: T1140A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

96% (74/77)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,414 (GRCm39)	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Aco1	A	G	4: 40,175,697 (GRCm39)	E146G	probably damaging	Het
Adam2	T	G	14: 66,272,265 (GRCm39)	D639A	probably benign	Het
Adh4	G	T	3: 138,133,835 (GRCm39)	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,298,702 (GRCm39)	D76G	probably damaging	Het
Akip1	T	C	7: 109,306,726 (GRCm39)		probably benign	Het
Ap3d1	T	A	10: 80,555,216 (GRCm39)	K370*	probably null	Het
Arfgef1	C	A	1: 10,270,076 (GRCm39)	V358L	probably benign	Het
Arpp21	A	T	9: 112,012,566 (GRCm39)	D85E	probably benign	Het
Azi2	A	T	9: 117,891,125 (GRCm39)	L383F	probably benign	Het
Bpgm	T	A	6: 34,481,222 (GRCm39)	D206E	probably benign	Het
Bsn	T	C	9: 107,985,033 (GRCm39)	D3007G	unknown	Het
Ccdc142	T	G	6: 83,084,179 (GRCm39)		probably benign	Het
Cep135	T	C	5: 76,763,504 (GRCm39)	V498A	probably benign	Het
Cntn6	A	T	6: 104,840,109 (GRCm39)	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,273,642 (GRCm39)		probably benign	Het
Csf2rb2	G	A	15: 78,176,160 (GRCm39)	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,399,895 (GRCm39)	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,173,713 (GRCm39)	T152A	probably benign	Het
Def8	G	A	8: 124,181,096 (GRCm39)	W176*	probably null	Het
Dgkg	A	G	16: 22,398,479 (GRCm39)		probably benign	Het
Ear10	T	C	14: 44,160,451 (GRCm39)		probably null	Het
Fbxw2	A	T	2: 34,712,859 (GRCm39)	Y67*	probably null	Het
Flii	T	A	11: 60,606,378 (GRCm39)	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,590,303 (GRCm39)	R270K	probably benign	Het
Gnl3	T	A	14: 30,739,110 (GRCm39)	K75N	probably damaging	Het
Gpc6	A	T	14: 117,861,905 (GRCm39)	M274L	probably benign	Het
Ifi47	A	G	11: 48,987,478 (GRCm39)	E415G	possibly damaging	Het
Ift57	A	G	16: 49,532,259 (GRCm39)	T130A	probably benign	Het
Itpr2	T	A	6: 146,072,910 (GRCm39)	D2373V	probably damaging	Het
Kat6a	T	C	8: 23,429,339 (GRCm39)	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,766,823 (GRCm39)		probably benign	Het
Klra2	T	C	6: 131,197,067 (GRCm39)		probably benign	Het
Lama5	A	G	2: 179,831,124 (GRCm39)		probably null	Het
Mapk4	A	G	18: 74,063,525 (GRCm39)	S566P	probably benign	Het
Mindy4	C	A	6: 55,253,570 (GRCm39)	R480S	possibly damaging	Het
Mterf3	T	C	13: 67,070,817 (GRCm39)		probably benign	Het
Mtmr2	A	G	9: 13,713,209 (GRCm39)		probably null	Het
Myef2l	T	C	3: 10,153,843 (GRCm39)	L204P	possibly damaging	Het
Nf1	A	G	11: 79,426,529 (GRCm39)	T1648A	probably damaging	Het
Nlk	A	T	11: 78,586,670 (GRCm39)	D141E	probably benign	Het
Noxa1	C	A	2: 24,976,106 (GRCm39)		probably benign	Het
Or4g16	A	G	2: 111,136,757 (GRCm39)	N69S	probably benign	Het
Or5b121	A	T	19: 13,507,613 (GRCm39)	Y236F	possibly damaging	Het
Or5p55	T	C	7: 107,566,679 (GRCm39)	V25A	probably benign	Het
Otog	G	A	7: 45,913,652 (GRCm39)		probably null	Het
Pebp4	T	C	14: 70,285,796 (GRCm39)		probably benign	Het
Phgdh	G	T	3: 98,240,607 (GRCm39)	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,702,242 (GRCm39)	H346R	probably benign	Het
Rsf1	T	C	7: 97,311,226 (GRCm39)	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,649,056 (GRCm39)	H624Y	probably damaging	Het
Semp2l2a	T	C	8: 13,887,870 (GRCm39)	R74G	probably benign	Het
Setdb2	T	C	14: 59,644,153 (GRCm39)	N656D	probably benign	Het
Slc22a23	T	C	13: 34,483,076 (GRCm39)	T268A	probably benign	Het
Slc3a1	A	T	17: 85,340,222 (GRCm39)	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,742,904 (GRCm39)	S206P	probably benign	Het
Susd2	T	A	10: 75,475,184 (GRCm39)	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121 (GRCm39)	Q2063*	probably null	Het
Syne2	G	A	12: 75,977,757 (GRCm39)	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,834,803 (GRCm39)	L64P	probably damaging	Het
Tigd2	A	G	6: 59,188,272 (GRCm39)	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,745,834 (GRCm39)	V411F	probably damaging	Het
Ubr4	T	C	4: 139,163,613 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,554,935 (GRCm39)	C3571Y	probably benign	Het
Usp8	A	G	2: 126,562,030 (GRCm39)	M75V	possibly damaging	Het
Vcan	C	T	13: 89,852,825 (GRCm39)	D712N	probably damaging	Het
Vcan	C	A	13: 89,860,386 (GRCm39)	R327L	probably damaging	Het
Vps8	A	G	16: 21,253,683 (GRCm39)	E8G	probably benign	Het
Washc5	T	C	15: 59,231,258 (GRCm39)	D335G	probably benign	Het
Zbtb39	A	G	10: 127,578,704 (GRCm39)	N426S	probably benign	Het
Zfp184	T	A	13: 22,133,919 (GRCm39)	D55E	probably damaging	Het
Zfp882	T	C	8: 72,668,181 (GRCm39)	V336A	probably benign	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
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	100,359,883 (GRCm39)	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100,359,902 (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	100,356,204 (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'- CCAAGAAAGGGTGATGTTCCCACAG -3'
(R):5'- GAGTCTGCCCATGATCAGCAGATG -3'

Sequencing Primer
(F):5'- ACAGTTCATGCTGTCAGGC -3'
(R):5'- AGCTGGCAGTAACTTCATGC -3'

Posted On

2013-07-11