Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Naip5'

669673

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

068566-MU

Accession Numbers

Essential gene?

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

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100223096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 544 (H544R)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049789
AA Change: H544R

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: H544R

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,798,008 (GRCm38)	N617K	probably benign	Het
Adnp2	A	T	18: 80,130,970 (GRCm38)	C75S	probably damaging	Het
Agmo	T	C	12: 37,357,674 (GRCm38)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,787,089 (GRCm38)	E71G		Het
Ahnak2	T	C	12: 112,786,252 (GRCm38)	Y122C		Het
Aldh5a1	A	G	13: 24,918,541 (GRCm38)	V313A	probably damaging	Het
Ankib1	C	A	5: 3,772,643 (GRCm38)	C21F	probably benign	Het
Aqr	A	G	2: 114,118,877 (GRCm38)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,275,980 (GRCm38)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,530,089 (GRCm38)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,298,290 (GRCm38)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,881,684 (GRCm38)	I113V	probably benign	Het
Catsper3	T	C	13: 55,805,844 (GRCm38)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,102,252 (GRCm38)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,933,755 (GRCm38)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm38)		probably null	Het
Cebpz	A	G	17: 78,921,652 (GRCm38)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,697 (GRCm38)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm38)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,321,694 (GRCm38)		probably benign	Het
Ddx1	A	G	12: 13,243,858 (GRCm38)		probably benign	Het
Duox2	A	C	2: 122,289,345 (GRCm38)	Y867*	probably null	Het
Ereg	T	C	5: 91,089,154 (GRCm38)	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,518,950 (GRCm38)	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,952,377 (GRCm38)	R2H	unknown	Het
Galnt6	C	T	15: 100,694,620 (GRCm38)	V569I	probably benign	Het
Gm14226	G	A	2: 155,024,174 (GRCm38)	C17Y	unknown	Het
Gpr150	T	G	13: 76,056,523 (GRCm38)	D101A	probably damaging	Het
Grm1	A	T	10: 10,689,552 (GRCm38)	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 88,714,923 (GRCm38)	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,415,210 (GRCm38)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,480,508 (GRCm38)	W641R		Het
Ifi214	T	A	1: 173,527,920 (GRCm38)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,784,773 (GRCm38)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,386,822 (GRCm38)	S636T	probably benign	Het
Klhl25	C	T	7: 75,865,672 (GRCm38)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,806,350 (GRCm38)	E835G	probably benign	Het
March1	A	G	8: 66,468,348 (GRCm38)	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,018,713 (GRCm38)		probably benign	Het
Myrf	C	A	19: 10,215,070 (GRCm38)	R639L	probably benign	Het
Nccrp1	T	C	7: 28,546,344 (GRCm38)	I132V	probably benign	Het
Nprl3	C	T	11: 32,237,334 (GRCm38)	V333I	possibly damaging	Het
Olfr1318	A	T	2: 112,156,589 (GRCm38)	I213F	probably damaging	Het
Olfr1385	T	A	11: 49,494,844 (GRCm38)	S104T	probably benign	Het
Olfr1394	T	C	11: 49,160,470 (GRCm38)	M152T	probably benign	Het
Olfr300-ps1	T	C	7: 86,443,715 (GRCm38)	S245P	probably damaging	Het
Olfr32	A	T	2: 90,138,770 (GRCm38)	I123N	probably damaging	Het
Olfr539	C	T	7: 140,668,139 (GRCm38)	S277L	possibly damaging	Het
Olfr648	T	C	7: 104,179,818 (GRCm38)	N197D	probably damaging	Het
Olfr680-ps1	C	A	7: 105,092,601 (GRCm38)	V73F	possibly damaging	Het
Olfr893	T	C	9: 38,209,803 (GRCm38)	V248A	probably benign	Het
Olfr974	T	C	9: 39,942,595 (GRCm38)	S112P	probably damaging	Het
Otx2	A	G	14: 48,659,064 (GRCm38)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 109,538,677 (GRCm38)		probably benign	Het
Ppfia3	T	A	7: 45,361,705 (GRCm38)	T34S	probably benign	Het
Prkcsh	T	C	9: 22,013,079 (GRCm38)	Y502H	probably damaging	Het
Psd	T	C	19: 46,313,336 (GRCm38)	E937G	probably damaging	Het
Rbbp6	T	A	7: 123,001,753 (GRCm38)	I1661N	unknown	Het
Rhobtb1	T	A	10: 69,270,757 (GRCm38)	M446K	probably damaging	Het
Sall3	T	C	18: 80,974,021 (GRCm38)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,327,654 (GRCm38)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,389,251 (GRCm38)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,560,283 (GRCm38)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,811,430 (GRCm38)	D418G	probably benign	Het
Sox6	T	C	7: 115,597,508 (GRCm38)	T296A	probably benign	Het
Ssu2	T	C	6: 112,384,438 (GRCm38)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,611,726 (GRCm38)	N90S	probably damaging	Het
Tex24	A	G	8: 27,344,624 (GRCm38)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,179,644 (GRCm38)	*128R	probably null	Het
Tti1	A	C	2: 157,993,010 (GRCm38)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,737,338 (GRCm38)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 104,129,115 (GRCm38)	K167N	probably benign	Het
Unkl	A	G	17: 25,231,715 (GRCm38)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,036,680 (GRCm38)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,591,135 (GRCm38)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,635,950 (GRCm38)	T62K	probably benign	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
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	100,223,313 (GRCm38)	missense	probably benign	0.00
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

PCR Primer
(F):5'- ATAGAAGGGAAACTCTTGGATCTCTAG -3'
(R):5'- CTGGCAGTGGAAAGACAACC -3'

Sequencing Primer
(F):5'- GGAAACTCTTGGATCTCTAGACTTG -3'
(R):5'- TCCTGAAGAGGATAGCTTTTCTC -3'

Posted On

2021-04-30