Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Naip5'

316482

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

040855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100348247-100382831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100382572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 46 (R46W)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably damaging
Transcript: ENSMUST00000049789
AA Change: R46W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: R46W

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: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,485,401 (GRCm39)	E422G	probably damaging	Het
Ace3	A	G	11: 105,888,040 (GRCm39)	Y287C	probably damaging	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Albfm1	T	A	5: 90,740,727 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atg12	A	G	18: 46,870,491 (GRCm39)	F92L	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Chgb	C	A	2: 132,635,847 (GRCm39)	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,947,849 (GRCm39)	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Crb2	G	T	2: 37,676,855 (GRCm39)	C251F	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,492,123 (GRCm39)		probably benign	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Dst	T	C	1: 34,267,542 (GRCm39)	F4995L	probably damaging	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eps15l1	A	G	8: 73,134,128 (GRCm39)	I482T	probably damaging	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ero1a	A	T	14: 45,529,893 (GRCm39)		probably null	Het
Etl4	T	C	2: 20,814,030 (GRCm39)		probably benign	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,684,139 (GRCm39)	D289G	probably damaging	Het
Gm5134	T	A	10: 75,844,365 (GRCm39)	W574R	probably damaging	Het
Gm5414	T	C	15: 101,533,988 (GRCm39)	N332D	probably benign	Het
Gnb3	T	A	6: 124,813,942 (GRCm39)	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Ighv1-4	A	G	12: 114,451,147 (GRCm39)	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,702,505 (GRCm39)	Y74*	probably null	Het
Il17f	G	A	1: 20,847,987 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,274,742 (GRCm39)		probably null	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,917,889 (GRCm39)	F85Y	probably benign	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Myh7b	T	C	2: 155,460,678 (GRCm39)	I277T	probably damaging	Het
Myo3b	T	C	2: 70,119,808 (GRCm39)	F984S	probably damaging	Het
Nup205	T	A	6: 35,168,975 (GRCm39)		probably null	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865 (GRCm39)	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Psg23	A	T	7: 18,341,043 (GRCm39)	S404T	possibly damaging	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Scg2	A	C	1: 79,414,574 (GRCm39)	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,311,629 (GRCm39)	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Swt1	A	G	1: 151,270,520 (GRCm39)	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606 (GRCm39)	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,890,845 (GRCm39)	N396S	probably benign	Het
Tuba8	T	A	6: 121,199,756 (GRCm39)	S147T	probably damaging	Het
Usp8	A	G	2: 126,594,290 (GRCm39)	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,304,566 (GRCm39)	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zfp608	A	T	18: 55,031,180 (GRCm39)	V920E	probably damaging	Het
Zmym2	T	C	14: 57,140,461 (GRCm39)	L100P	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
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'- TCCGGACGTAATTTCTTGTGTC -3'
(R):5'- TGAGAGCTGCCTCGAACAC -3'

Sequencing Primer
(F):5'- TCCTGAGGCTGTTACCAAAG -3'
(R):5'- CCCAACAACTGCTCACCTTTC -3'

Posted On

2015-05-15