Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:Naip5'

355959

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

041948-MU

Accession Numbers

Essential gene?

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

Stock #

R4700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100223414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 438 (V438A)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049789
AA Change: V438A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: V438A

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,558,812		probably benign	Het
Abca13	A	G	11: 9,292,306	T1390A	possibly damaging	Het
Abca14	T	A	7: 120,312,705		probably null	Het
Abca8a	A	C	11: 110,070,482	V538G	probably damaging	Het
Acy1	C	T	9: 106,433,583	G329R	probably benign	Het
Adamts17	T	C	7: 67,041,888	C607R	probably damaging	Het
Adamts20	A	T	15: 94,394,622	C202*	probably null	Het
Adcy5	A	G	16: 35,279,216	N712S	possibly damaging	Het
Ahnak	A	G	19: 9,004,681	K1110E	probably benign	Het
Anks6	T	A	4: 47,033,127	H578L	possibly damaging	Het
Appl1	C	A	14: 26,925,971	L626F	probably benign	Het
Arl1	A	G	10: 88,730,637		probably benign	Het
Atf4	T	A	15: 80,257,417	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121	S1044T	probably benign	Het
B020031M17Rik	T	C	13: 119,949,842	Y76C	probably benign	Het
Carm1	A	G	9: 21,587,184	N466S	probably benign	Het
Cbl	A	G	9: 44,173,380	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,927,731		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc7	T	C	5: 106,973,841	F207L	probably benign	Het
Celsr2	T	C	3: 108,397,231	R2271G	probably benign	Het
Cep162	T	C	9: 87,206,862	Q989R	probably damaging	Het
Cep89	A	G	7: 35,438,437	T749A	probably benign	Het
Clcn5	T	C	X: 7,166,352		probably null	Het
Clu	A	T	14: 65,979,864	Y382F	probably benign	Het
Cnih4	A	G	1: 181,166,243		probably benign	Het
Crb1	A	G	1: 139,198,771	L1340P	probably damaging	Het
D730048I06Rik	A	T	9: 35,789,725	C22S	probably damaging	Het
Ddx4	T	C	13: 112,613,735	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,921,198	E484G	probably benign	Het
Dsg4	G	T	18: 20,456,908	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,868,286	D21G	probably benign	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,802,507		probably null	Het
F10	G	T	8: 13,039,621	V67F	possibly damaging	Het
Fat3	A	G	9: 16,031,173	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,570,695	T549A	probably benign	Het
Flt4	C	A	11: 49,626,444		probably benign	Het
Fndc1	G	A	17: 7,771,480	T1128I	unknown	Het
Fos	T	C	12: 85,476,162	S283P	probably benign	Het
Fryl	T	C	5: 73,065,538	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,987,029	Q4369K	probably benign	Het
Gad2	A	T	2: 22,673,970	H395L	probably damaging	Het
Grm2	T	A	9: 106,653,931	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Igsf10	A	T	3: 59,320,330	I1974N	probably damaging	Het
Il23r	T	C	6: 67,473,850	N215S	probably damaging	Het
Jph1	T	A	1: 17,091,704	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,607,613	H147Y	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,237,081	G83R	probably damaging	Het
Map2	A	G	1: 66,410,637	E173G	probably damaging	Het
Med29	T	A	7: 28,386,927	D152V	possibly damaging	Het
Megf8	A	G	7: 25,363,515	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,135,152		probably benign	Het
Myh7	A	G	14: 54,988,321	I521T	possibly damaging	Het
Mylk	G	T	16: 34,922,435	V1106L	probably benign	Het
Myo15b	A	T	11: 115,861,935	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,516,785		probably null	Het
Myrfl	A	G	10: 116,777,342		probably null	Het
Nav3	A	G	10: 109,764,935	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,503,441	V487E	probably damaging	Het
Oc90	T	A	15: 65,881,505	R322W	possibly damaging	Het
Olfr1313	A	G	2: 112,071,752	V277A	possibly damaging	Het
Olfr357	C	A	2: 36,997,503	A231D	probably benign	Het
Olfr677	A	T	7: 105,056,276	H10L	possibly damaging	Het
Olfr878	A	G	9: 37,918,921	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,712,160	H231R	probably damaging	Het
Pdzph1	T	C	17: 58,974,546	H247R	probably damaging	Het
Pidd1	T	C	7: 141,442,249	N209S	probably damaging	Het
Pknox1	C	T	17: 31,603,312	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,958,615	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,702,112	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,754,025	D21G	possibly damaging	Het
Recql4	C	T	15: 76,708,585	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,619,483		noncoding transcript	Het
Sdc1	A	G	12: 8,790,541	E106G	possibly damaging	Het
Slc10a5	C	A	3: 10,335,299	Q100H	probably damaging	Het
Slc10a5	T	G	3: 10,335,300	Q100P	probably damaging	Het
Slc5a9	A	T	4: 111,890,937	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,121,649	V197A	probably benign	Het
Spire1	T	C	18: 67,512,865	M244V	probably benign	Het
St3gal3	C	T	4: 117,960,035	V141I	probably benign	Het
St6galnac4	G	T	2: 32,587,160		probably benign	Het
Svep1	T	C	4: 58,097,323	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,224,649	C78R	probably damaging	Het
Tln2	A	G	9: 67,346,527	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869	Y189F	possibly damaging	Het
Tmem131l	C	T	3: 83,899,212	A1433T	probably benign	Het
Tnfrsf8	T	C	4: 145,303,122	Y36C	probably damaging	Het
Trp53i11	G	T	2: 93,199,900	R184L	probably damaging	Het
Trpv1	A	T	11: 73,251,284	M214L	possibly damaging	Het
Tsnax	T	A	8: 125,028,794	S132T	probably benign	Het
Ttc28	T	C	5: 111,277,043	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,439,241		probably null	Het
Tubal3	T	A	13: 3,933,514	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,092,442		probably null	Het
Vmn1r23	A	T	6: 57,926,205	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,146,587	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,146,588	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,457,485	G474E	probably damaging	Het
Vps26b	T	C	9: 27,015,215	K163E	probably damaging	Het
Zfp142	A	G	1: 74,570,272	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,626,883	E52K	possibly damaging	Het
Zfp423	T	A	8: 87,781,710		probably null	Het
Zfp493	T	C	13: 67,786,617	F230L	probably damaging	Het
Zfp760	T	C	17: 21,722,407	C188R	probably benign	Het
Zfyve28	G	T	5: 34,217,845	T275K	probably damaging	Het
Znhit3	T	C	11: 84,916,329	N5D	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
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
R8817:Naip5	UTSW	13	100212699	missense	probably benign	0.01
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'- GAAGACCAGCTGGAACCTGTAC -3'
(R):5'- AGAGAGGTTCGAAGTGTACCAC -3'

Sequencing Primer
(F):5'- TACAACAGGGGGCAGCATCC -3'
(R):5'- GAGGTTCGAAGTGTACCACCCTATAC -3'

Posted On

2015-10-21