Mutagenetix > Incidental Mutation

Incidental Mutation 'R8817:Naip5'

672836

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

068727-MU

Accession Numbers

Essential gene?

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

Stock #

R8817 (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 100212699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1374 (I1374V)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably benign
Transcript: ENSMUST00000049789
AA Change: I1374V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: I1374V

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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
1110051M20Rik	A	G	2: 91,276,998	Y320H	probably benign	Het
Aass	A	T	6: 23,097,196	Y41*	probably null	Het
AI429214	G	A	8: 36,994,114	V139I	probably benign	Het
Cacna1a	G	A	8: 84,638,797	A2190T	probably benign	Het
Cutc	T	C	19: 43,755,674	V38A	probably benign	Het
Cxcl10	G	T	5: 92,347,371	P98H	probably damaging	Het
Dopey1	T	C	9: 86,513,950	S822P	possibly damaging	Het
Dusp19	T	C	2: 80,624,287	L117P	probably damaging	Het
Emc3	A	G	6: 113,515,907	F261S	probably damaging	Het
Ephx2	T	C	14: 66,107,276	T200A	probably benign	Het
Eri1	A	C	8: 35,478,638	D164E	probably damaging	Het
Ethe1	T	C	7: 24,606,302	I158T	probably damaging	Het
Fancm	C	T	12: 65,120,557	R1547C	probably damaging	Het
Fer1l4	T	A	2: 156,048,223	T261S	probably damaging	Het
Fyb2	A	G	4: 104,945,455	R185G	probably benign	Het
Gabrp	A	T	11: 33,554,464	S284T	possibly damaging	Het
Gga2	G	A	7: 121,991,622	R488*	probably null	Het
Gm14085	A	T	2: 122,518,507	T305S	possibly damaging	Het
Gm436	A	G	4: 144,673,791	V139A	probably benign	Het
Gm9758	A	G	5: 14,912,216	L126S	probably damaging	Het
Gse1	T	C	8: 120,567,803	F290L	probably damaging	Het
Hdgfl1	A	G	13: 26,770,085	S2P	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Huwe1	A	G	X: 151,886,997	K1482R	probably benign	Het
Lama2	A	T	10: 27,187,873	W1307R	probably damaging	Het
Map3k6	A	G	4: 133,246,760	K517E	probably benign	Het
Mbl1	T	A	14: 41,153,598	L3Q	unknown	Het
Mepe	G	T	5: 104,337,285	R97L	probably benign	Het
Minpp1	T	A	19: 32,486,347	M136K	possibly damaging	Het
Mrgprb1	T	A	7: 48,447,322	I281F	probably benign	Het
Olfr1259	A	G	2: 89,943,446	L223S	probably damaging	Het
Olfr603	A	T	7: 103,383,618	I128N	probably damaging	Het
Olfr761	A	G	17: 37,952,382	I214T	probably damaging	Het
Olfr954	C	T	9: 39,462,091	S217F	probably damaging	Het
Olfr970	G	T	9: 39,819,643	M1I	probably null	Het
Pamr1	T	G	2: 102,634,421	V305G	probably benign	Het
Pcbp3	T	C	10: 76,789,836	T125A	probably benign	Het
Peli2	G	A	14: 48,252,673	E201K	possibly damaging	Het
Pitpnm3	T	C	11: 72,051,068	E971G	possibly damaging	Het
Pkdrej	A	G	15: 85,818,573	V1054A	probably damaging	Het
Plcb1	G	A	2: 135,333,509		probably benign	Het
Prpf40a	T	C	2: 53,152,959	K480E	probably damaging	Het
Psd3	A	G	8: 67,960,483	I465T	possibly damaging	Het
Pskh1	C	T	8: 105,929,720	R343W	probably damaging	Het
Ptprz1	A	T	6: 23,007,372	T1645S	probably damaging	Het
Rasal1	T	C	5: 120,670,351	F483L	probably damaging	Het
Rbm28	T	C	6: 29,155,024		probably benign	Het
Recql	G	A	6: 142,358,886		probably benign	Het
Rnf40	T	C	7: 127,597,160	V760A	probably damaging	Het
Rp1l1	A	T	14: 64,030,636	R1224W	probably benign	Het
Rpgrip1	T	C	14: 52,140,599	V468A	probably benign	Het
Ryr2	T	A	13: 11,735,623	I1921F	possibly damaging	Het
Sirpa	G	A	2: 129,593,638	G9D	unknown	Het
Slc40a1	A	C	1: 45,909,539	V527G	probably damaging	Het
Smarca4	T	A	9: 21,636,201	M260K	probably benign	Het
Smarca5	A	T	8: 80,733,750	M119K	probably benign	Het
Smg1	A	G	7: 118,159,664	V2206A	unknown	Het
Sp4	A	T	12: 118,261,889	V580D	possibly damaging	Het
Spata31d1c	G	A	13: 65,034,562	C75Y	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Srcap	T	C	7: 127,553,223	S2220P	probably benign	Het
Stra6	G	T	9: 58,151,982	V543F	possibly damaging	Het
Tenm4	T	A	7: 96,874,128	F1626I	probably benign	Het
Tjp1	T	C	7: 65,303,062	N1508S	probably benign	Het
Trrap	T	A	5: 144,845,538	L3298Q	probably damaging	Het
Tsn	A	G	1: 118,304,740	L135P	probably damaging	Het
Ttl	A	T	2: 129,068,858	H54L	probably damaging	Het
Ttn	T	A	2: 76,829,907	T12110S	unknown	Het
Uba6	T	C	5: 86,148,913	I306V	probably null	Het
Ubap2	A	G	4: 41,223,425	S204P	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Ush2a	A	T	1: 188,263,034	M1L	probably benign	Het
Vmn1r159	C	A	7: 22,843,134	V158F	probably benign	Het
Wif1	A	G	10: 121,096,716	H333R	possibly damaging	Het
Zfp282	T	A	6: 47,904,826	N482K	probably benign	Het

Other mutations in Naip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Naip5	APN	13	100246175	nonsense	probably null
IGL00493:Naip5	APN	13	100230771	missense	probably damaging	0.96
IGL01294:Naip5	APN	13	100217080	missense	probably damaging	0.99
IGL01405:Naip5	APN	13	100221945	missense	probably benign	0.11
IGL01568:Naip5	APN	13	100217101	missense	probably benign	0.26
IGL01804:Naip5	APN	13	100221584	missense	probably damaging	1.00
IGL02012:Naip5	APN	13	100223339	missense	probably benign	0.01
IGL02183:Naip5	APN	13	100221642	missense	probably benign	0.41
IGL02449:Naip5	APN	13	100222175	missense	probably benign	0.34
IGL02815:Naip5	APN	13	100222731	missense	probably benign
IGL02992:Naip5	APN	13	100223028	missense	probably damaging	1.00
IGL03027:Naip5	APN	13	100223016	missense	probably benign	0.00
IGL03234:Naip5	APN	13	100212627	missense	probably damaging	1.00
inwood2	UTSW	13	100223014	nonsense	probably null
inwood3	UTSW	13	100221903	nonsense	probably null
Nuchal	UTSW	13	100214663	missense	possibly damaging	0.82
PIT4131001:Naip5	UTSW	13	100219739	missense	probably benign
PIT4131001:Naip5	UTSW	13	100219760	missense	probably benign	0.00
R0001:Naip5	UTSW	13	100214650	critical splice donor site	probably null
R0001:Naip5	UTSW	13	100223114	missense	probably benign
R0462:Naip5	UTSW	13	100221732	missense	probably damaging	1.00
R0636:Naip5	UTSW	13	100219688	missense	probably benign
R0674:Naip5	UTSW	13	100223199	missense	probably benign	0.04
R0764:Naip5	UTSW	13	100217105	missense	probably benign	0.03
R0837:Naip5	UTSW	13	100230743	missense	probably benign
R1179:Naip5	UTSW	13	100219830	missense	probably benign
R1302:Naip5	UTSW	13	100221591	missense	possibly damaging	0.91
R1441:Naip5	UTSW	13	100219717	missense	possibly damaging	0.95
R1513:Naip5	UTSW	13	100222206	missense	probably benign
R1638:Naip5	UTSW	13	100212669	missense	probably damaging	1.00
R1651:Naip5	UTSW	13	100221911	missense	probably benign	0.41
R1707:Naip5	UTSW	13	100242855	missense	probably damaging	1.00
R1835:Naip5	UTSW	13	100223218	nonsense	probably null
R1836:Naip5	UTSW	13	100219687	missense	probably benign	0.18
R1972:Naip5	UTSW	13	100212770	missense	probably damaging	0.98
R2080:Naip5	UTSW	13	100221533	missense	probably damaging	1.00
R2333:Naip5	UTSW	13	100223171	missense	probably damaging	1.00
R2348:Naip5	UTSW	13	100219738	missense	probably benign	0.01
R3055:Naip5	UTSW	13	100221878	missense	probably benign	0.23
R3401:Naip5	UTSW	13	100221903	nonsense	probably null
R3723:Naip5	UTSW	13	100223014	nonsense	probably null
R3775:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4074:Naip5	UTSW	13	100246064	missense	probably damaging	1.00
R4082:Naip5	UTSW	13	100245830	missense	probably damaging	1.00
R4105:Naip5	UTSW	13	100219739	missense	probably benign
R4227:Naip5	UTSW	13	100212768	missense	probably damaging	0.99
R4639:Naip5	UTSW	13	100219830	missense	probably benign
R4640:Naip5	UTSW	13	100219830	missense	probably benign
R4641:Naip5	UTSW	13	100219830	missense	probably benign
R4644:Naip5	UTSW	13	100219830	missense	probably benign
R4645:Naip5	UTSW	13	100219830	missense	probably benign
R4700:Naip5	UTSW	13	100223414	missense	possibly damaging	0.62
R4727:Naip5	UTSW	13	100221870	missense	possibly damaging	0.81
R4729:Naip5	UTSW	13	100222131	missense	possibly damaging	0.75
R4816:Naip5	UTSW	13	100219681	missense	probably benign	0.32
R4816:Naip5	UTSW	13	100219687	missense	probably benign	0.01
R4816:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R4869:Naip5	UTSW	13	100245131	missense	probably damaging	1.00
R5162:Naip5	UTSW	13	100223406	missense	possibly damaging	0.78
R5244:Naip5	UTSW	13	100245662	missense	probably benign	0.08
R5411:Naip5	UTSW	13	100245746	missense	possibly damaging	0.54
R5632:Naip5	UTSW	13	100230662	splice site	probably null
R5760:Naip5	UTSW	13	100242838	missense	probably damaging	1.00
R5916:Naip5	UTSW	13	100222701	missense	probably benign	0.02
R6302:Naip5	UTSW	13	100223166	missense	possibly damaging	0.76
R6304:Naip5	UTSW	13	100223166	missense	possibly damaging	0.76
R6411:Naip5	UTSW	13	100223405	missense	probably benign	0.01
R6474:Naip5	UTSW	13	100214663	missense	possibly damaging	0.82
R6499:Naip5	UTSW	13	100221594	missense	probably benign
R6544:Naip5	UTSW	13	100223144	missense	possibly damaging	0.50
R6827:Naip5	UTSW	13	100245929	missense	possibly damaging	0.48
R6954:Naip5	UTSW	13	100223414	missense	probably damaging	0.99
R7052:Naip5	UTSW	13	100222347	missense	probably benign	0.01
R7138:Naip5	UTSW	13	100219830	missense	probably benign
R7141:Naip5	UTSW	13	100219830	missense	probably benign
R7375:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7375:Naip5	UTSW	13	100219697	missense	not run
R7401:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7401:Naip5	UTSW	13	100219697	missense	not run
R7447:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7447:Naip5	UTSW	13	100219697	missense	not run
R7466:Naip5	UTSW	13	100221986	nonsense	probably null
R7491:Naip5	UTSW	13	100217071	missense	probably benign	0.18
R7559:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7559:Naip5	UTSW	13	100219697	missense	not run
R7562:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7562:Naip5	UTSW	13	100219697	missense	not run
R7588:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7588:Naip5	UTSW	13	100219697	missense	not run
R7589:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7589:Naip5	UTSW	13	100219697	missense	not run
R7590:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100219697	missense	not run
R7742:Naip5	UTSW	13	100219830	missense	probably benign
R7886:Naip5	UTSW	13	100246181	missense	probably benign	0.28
R7996:Naip5	UTSW	13	100221656	missense	probably damaging	1.00
R8026:Naip5	UTSW	13	100245898	missense	probably damaging	1.00
R8046:Naip5	UTSW	13	100222233	missense	probably benign
R8319:Naip5	UTSW	13	100221659	missense	probably benign	0.12
R8471:Naip5	UTSW	13	100221645	missense	probably damaging	0.99
R8480:Naip5	UTSW	13	100222235	missense	probably damaging	1.00
R8496:Naip5	UTSW	13	100212739	missense	probably benign	0.00
R8500:Naip5	UTSW	13	100222712	missense	probably damaging	0.98
R8712:Naip5	UTSW	13	100223096	missense	possibly damaging	0.61
R8780:Naip5	UTSW	13	100219830	missense	probably benign
R8781:Naip5	UTSW	13	100219830	missense	probably benign
R8788:Naip5	UTSW	13	100219830	missense	probably benign
R8833:Naip5	UTSW	13	100222934	missense	probably damaging	0.97
R8835:Naip5	UTSW	13	100219830	missense	probably benign
R8958:Naip5	UTSW	13	100217609	nonsense	probably null
R9031:Naip5	UTSW	13	100219830	missense	probably benign
R9032:Naip5	UTSW	13	100219830	missense	probably benign
R9074:Naip5	UTSW	13	100221756	missense	possibly damaging	0.92
R9098:Naip5	UTSW	13	100229619	missense	possibly damaging	0.67
R9204:Naip5	UTSW	13	100222500	missense	probably damaging	1.00
R9223:Naip5	UTSW	13	100227676	missense	probably benign	0.05
R9358:Naip5	UTSW	13	100219830	missense	probably benign
R9389:Naip5	UTSW	13	100219830	missense	probably benign
R9403:Naip5	UTSW	13	100219830	missense	probably benign
R9518:Naip5	UTSW	13	100221859	missense	probably benign
R9568:Naip5	UTSW	13	100219830	missense	probably benign
R9568:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9569:Naip5	UTSW	13	100219830	missense	probably benign
R9569:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9570:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9572:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9581:Naip5	UTSW	13	100214686	missense	probably benign	0.11
R9627:Naip5	UTSW	13	100219830	missense	probably benign
R9725:Naip5	UTSW	13	100222276	missense	possibly damaging	0.94
R9763:Naip5	UTSW	13	100230761	missense	probably damaging	0.99
R9764:Naip5	UTSW	13	100230761	missense	probably damaging	0.99
R9765:Naip5	UTSW	13	100230761	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCAGTGATGAGCATGTAGATTTTC -3'
(R):5'- TCAAGCCCTGGACAACTTGC -3'

Sequencing Primer
(F):5'- ATCAGCCTTCGGATAGATGGATC -3'
(R):5'- TTGCCAAACCTACAAGAGCTG -3'

Posted On

2021-04-30