Mutagenetix > Incidental Mutation

Incidental Mutation 'R7447:Naip5'

577387

Institutional Source

Beutler Lab

Gene Symbol

Naip5

Ensembl Gene

ENSMUSG00000071203

Gene Name

NLR family, apoptosis inhibitory protein 5

Synonyms

Birc1e, Lgn1, Naip-rs3

Accession Numbers

Essential gene?

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

Stock #

R7447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100219697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1137 (Q1137K)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

not run
Transcript: ENSMUST00000049789
AA Change: Q1137K

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: Q1137K

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: 99.4%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	C	11: 29,824,122	D445G	probably benign	Het
Adck5	A	T	15: 76,595,196	I484F	possibly damaging	Het
Ago2	A	T	15: 73,138,032	N100K	probably benign	Het
Appl1	T	A	14: 26,959,452	K130*	probably null	Het
Arhgap39	G	A	15: 76,765,597		probably benign	Het
Axdnd1	A	G	1: 156,418,232		probably null	Het
C77080	C	A	4: 129,222,042	R988L	possibly damaging	Het
Camta1	A	T	4: 151,083,870	V1332E	probably benign	Het
Cd3g	A	G	9: 44,973,559	L129P	probably damaging	Het
Cd80	T	G	16: 38,473,889	S45A	probably benign	Het
Cdk12	A	T	11: 98,245,280	Q1120L	unknown	Het
Clip1	G	A	5: 123,653,633	S158F	probably benign	Het
Cntn3	C	A	6: 102,278,455	E161*	probably null	Het
Cyp3a59	A	C	5: 146,087,405	K67T	probably benign	Het
Dmxl1	T	C	18: 49,864,614	L623P	probably damaging	Het
Drd3	T	A	16: 43,817,063	Y208*	probably null	Het
Dusp10	A	T	1: 184,068,956	M307L	probably benign	Het
Dync2li1	A	T	17: 84,647,713	I267L	possibly damaging	Het
Edn3	C	A	2: 174,761,751	C97*	probably null	Het
Ehbp1l1	T	A	19: 5,719,428	T616S	possibly damaging	Het
Eif2a	C	T	3: 58,545,542	T246I	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Errfi1	A	G	4: 150,866,651	T179A	probably damaging	Het
Esyt3	G	A	9: 99,321,562	L450F	probably damaging	Het
Evx2	A	G	2: 74,659,104	S106P	probably benign	Het
Fam83a	T	G	15: 58,009,690	V305G	probably benign	Het
Gpr171	T	A	3: 59,098,439		probably null	Het
Grip1	A	G	10: 120,086,966	T1106A	probably benign	Het
Hecw1	A	G	13: 14,357,204	Y162H	probably damaging	Het
Hephl1	C	T	9: 15,097,882		probably null	Het
Hsp90aa1	A	G	12: 110,692,128	I693T	possibly damaging	Het
Ifit1bl2	T	A	19: 34,619,574	D214V	probably damaging	Het
Igsf10	T	C	3: 59,331,801	M320V	probably benign	Het
Kcnq2	A	G	2: 181,113,094	L220P	probably damaging	Het
Kpna1	C	A	16: 36,029,639	Q372K	probably damaging	Het
Lilrb4a	T	G	10: 51,491,053		probably null	Het
Ly75	C	A	2: 60,334,474	E787*	probably null	Het
Magi1	T	G	6: 93,745,581	S666R	possibly damaging	Het
Mif	C	A	10: 75,859,853	A39S	possibly damaging	Het
Mob4	G	A	1: 55,131,466		probably benign	Het
Mtmr4	G	T	11: 87,611,901	C927F	probably damaging	Het
Myh1	A	G	11: 67,219,180	K1398R	probably benign	Het
Myo3a	T	C	2: 22,544,426	V873A	probably benign	Het
Nckap5l	G	A	15: 99,427,476	P382L	probably damaging	Het
Ngly1	T	C	14: 16,290,844	I442T	probably damaging	Het
Nlrp1a	T	C	11: 71,092,411	Y1243C	probably damaging	Het
Olfr1055	T	A	2: 86,346,806	H320L	possibly damaging	Het
Pcsk5	C	T	19: 17,510,236	G1027D	probably benign	Het
Pla2g2c	T	A	4: 138,731,616	I11N	probably benign	Het
Polr3d	A	G	14: 70,439,800	I331T	probably damaging	Het
Ppp4r4	A	G	12: 103,585,726	I293M	possibly damaging	Het
Prkce	G	T	17: 86,559,259	V516F	probably damaging	Het
Prss27	T	A	17: 24,045,709	L282Q	probably damaging	Het
Pxdn	A	G	12: 29,984,927	Y261C	probably damaging	Het
R3hcc1l	T	C	19: 42,562,662	S33P	probably benign	Het
Rab11fip3	G	C	17: 26,068,874	R102G	possibly damaging	Het
Rabggta	A	T	14: 55,719,316	N310K	probably null	Het
Rbbp8	T	A	18: 11,660,877	D15E	probably benign	Het
Rbm5	T	C	9: 107,746,179	Y486C	probably damaging	Het
Rptor	T	A	11: 119,884,979	F992Y	probably benign	Het
Slc29a2	T	G	19: 5,026,417	L111R	probably damaging	Het
Slc39a11	T	A	11: 113,562,023	I31L	probably benign	Het
Slc6a20a	T	A	9: 123,656,224	N311I	possibly damaging	Het
Slc8a1	A	G	17: 81,649,006	F201S	probably damaging	Het
Smtn	C	A	11: 3,530,196	V342L	probably benign	Het
Syne2	A	G	12: 76,028,079	T4598A	probably benign	Het
Tchp	A	G	5: 114,715,655	T267A	probably benign	Het
Tctex1d2	T	A	16: 32,425,271	V95E	probably damaging	Het
Tes3-ps	A	G	13: 49,494,032	E128G	possibly damaging	Het
Tigar	C	T	6: 127,088,166	G173E	probably benign	Het
Tmem171	T	C	13: 98,688,354	N256S	probably benign	Het
Tmem204	A	G	17: 25,058,296	I205T	probably damaging	Het
Tmem63a	A	G	1: 180,958,023	K240R	probably benign	Het
Tns2	C	T	15: 102,110,916	T446M	probably damaging	Het
Tnxb	A	T	17: 34,718,470	N2931I	probably damaging	Het
Trrap	G	T	5: 144,839,474	R2941L	probably damaging	Het
Ttc8	A	T	12: 98,943,872	R179S	probably damaging	Het
Ttll12	G	T	15: 83,586,975	T234N	probably damaging	Het
Ttn	G	T	2: 76,747,232	T24439K	probably damaging	Het
Ube2z	A	T	11: 96,055,910	I246N	possibly damaging	Het
Usp15	A	G	10: 123,175,881	Y104H	probably damaging	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Usp5	G	A	6: 124,821,114	A436V	probably damaging	Het
Utp20	A	G	10: 88,772,492	L1561S	probably damaging	Het
Xrn1	A	G	9: 96,045,494	M1444V	probably benign	Het
Zfp236	G	T	18: 82,633,690	Q885K	probably damaging	Het
Zfp831	C	A	2: 174,646,103	P857Q	possibly damaging	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
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

Posted On

2019-10-07