Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Naip5'

721862

Institutional Source

Beutler Lab

Gene Symbol

Naip5

Ensembl Gene

ENSMUSG00000071203

Gene Name

NLR family, apoptosis inhibitory protein 5

Synonyms

Birc1e, Lgn1, Naip-rs3

MMRRC Submission

068966-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100223313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 472 (T472A)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably benign
Transcript: ENSMUST00000049789
AA Change: T472A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: T472A

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: 99.7%
20x: 98.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	G	C	4: 42,971,740 (GRCm38)	V358L	probably benign	Het
4932438A13Rik	T	C	3: 37,012,621 (GRCm38)	M211T		Het
Abi2	T	A	1: 60,464,604 (GRCm38)	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,179,637 (GRCm38)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,743,390 (GRCm38)	M553T	possibly damaging	Het
Apeh	C	T	9: 108,094,410 (GRCm38)	V13M	unknown	Het
Apol11b	C	T	15: 77,640,571 (GRCm38)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,717,733 (GRCm38)	T177I	probably damaging	Het
Bub1b	T	C	2: 118,638,403 (GRCm38)	I883T	probably damaging	Het
C9	T	C	15: 6,459,581 (GRCm38)	S140P	probably damaging	Het
Cbfa2t2	T	A	2: 154,504,565 (GRCm38)	I64N	probably benign	Het
Cd180	A	T	13: 102,705,978 (GRCm38)	I511F	possibly damaging	Het
Cic	T	C	7: 25,272,695 (GRCm38)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,807,314 (GRCm38)		probably null	Het
D5Ertd579e	T	C	5: 36,602,635 (GRCm38)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,480,431 (GRCm38)	E422D	probably benign	Het
Depdc5	A	T	5: 32,867,977 (GRCm38)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,329,547 (GRCm38)	F40S	unknown	Het
Duox1	T	C	2: 122,318,490 (GRCm38)	V82A	probably benign	Het
Dus2	T	C	8: 106,044,875 (GRCm38)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,420,835 (GRCm38)	S326N	probably benign	Het
Fat3	A	C	9: 15,919,199 (GRCm38)	L153R		Het
Gpx8	C	T	13: 113,045,591 (GRCm38)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 88,694,520 (GRCm38)	D268G	probably benign	Het
Hc	T	C	2: 35,036,347 (GRCm38)	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,568,952 (GRCm38)	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,486,643 (GRCm38)	D77A		Het
Igfbp1	A	G	11: 7,197,881 (GRCm38)		probably benign	Het
Kdm3a	T	C	6: 71,607,450 (GRCm38)	D559G	probably benign	Het
Kif2a	A	G	13: 106,968,738 (GRCm38)	I565T	probably benign	Het
Krt2	T	C	15: 101,816,489 (GRCm38)	T229A	probably damaging	Het
Lcmt2	G	A	2: 121,140,041 (GRCm38)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,387,254 (GRCm38)	M241T	probably benign	Het
Mup15	T	C	4: 61,439,638 (GRCm38)		probably benign	Het
Myo9b	T	C	8: 71,358,985 (GRCm38)	V1912A	probably benign	Het
Net1	A	G	13: 3,888,518 (GRCm38)	F123S	probably benign	Het
Olfr183	A	G	16: 58,999,865 (GRCm38)	Y60C	probably damaging	Het
Olfr335-ps	T	C	2: 36,301,934 (GRCm38)	Y132H	probably damaging	Het
Olfr666	C	T	7: 104,893,318 (GRCm38)	M103I	possibly damaging	Het
Pcdhb13	T	C	18: 37,443,100 (GRCm38)	F177S	probably damaging	Het
Pclo	T	C	5: 14,857,051 (GRCm38)		probably null	Het
Perm1	A	G	4: 156,218,582 (GRCm38)	T528A	probably benign	Het
Pik3c2a	C	T	7: 116,358,704 (GRCm38)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,094,992 (GRCm38)	Q146*	probably null	Het
Psd	A	T	19: 46,320,278 (GRCm38)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,812,438 (GRCm38)	T220S	probably benign	Het
Scn2a	A	G	2: 65,730,278 (GRCm38)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,629,404 (GRCm38)	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,076,324 (GRCm38)	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,671,594 (GRCm38)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,685,911 (GRCm38)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,575,398 (GRCm38)	V179A		Het
Sox14	T	G	9: 99,875,509 (GRCm38)	D49A		Het
Timm22	A	G	11: 76,407,370 (GRCm38)	S56G	probably benign	Het
Tmub2	G	A	11: 102,288,327 (GRCm38)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,758,166 (GRCm38)	T8A	probably benign	Het
Ttn	T	C	2: 76,709,308 (GRCm38)	I34445V	probably benign	Het
Tyms	A	T	5: 30,063,362 (GRCm38)	Y196*	probably null	Het
Ube2o	G	A	11: 116,543,997 (GRCm38)	T546M	probably damaging	Het
Umodl1	A	G	17: 30,998,169 (GRCm38)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm38)		probably benign	Het
Unk	A	T	11: 116,059,209 (GRCm38)	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,606,869 (GRCm38)	E232G	probably benign	Het
Vps41	A	G	13: 18,829,226 (GRCm38)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,344,131 (GRCm38)	M800V	probably benign	Het
Wt1	T	A	2: 105,163,366 (GRCm38)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,510,898 (GRCm38)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,668,700 (GRCm38)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 20,154,152 (GRCm38)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,576,227 (GRCm38)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,745,592 (GRCm38)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,739,547 (GRCm38)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,661,989 (GRCm38)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,207,609 (GRCm38)	M150V	probably benign	Het
Znfx1	T	A	2: 167,055,955 (GRCm38)	I350F		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
IGL02183:Naip5	APN	13	100,221,642 (GRCm38)	missense	probably benign	0.41
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	100,223,394 (GRCm38)	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100,223,375 (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	100,219,697 (GRCm38)	missense	not run
R7447:Naip5	UTSW	13	100,219,696 (GRCm38)	missense	probably benign	0.00
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	100,219,696 (GRCm38)	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100,219,697 (GRCm38)	missense	not run
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	100,219,830 (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

Predicted Primers

Posted On

2022-08-09