Mutagenetix > Incidental Mutation

Incidental Mutation 'R1972:Nlrx1'

221099

Institutional Source

Beutler Lab

Gene Symbol

Nlrx1

Ensembl Gene

ENSMUSG00000032109

Gene Name

NLR family member X1

Synonyms

MMRRC Submission

039985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R1972 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

44252717-44268599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44253456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 897 (V897A)

Ref Sequence

ENSEMBL: ENSMUSP00000126555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034618] [ENSMUST00000034621] [ENSMUST00000168499] [ENSMUST00000169651]

AlphaFold

Q3TL44

Predicted Effect

probably benign
Transcript: ENSMUST00000034618

SMART Domains

Protein: ENSMUSP00000034618
Gene: ENSMUSG00000032105

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
PDZ	58	130	2.04e-15	SMART
PDZ	165	235	2.93e-7	SMART
PDZ	271	346	2.47e-14	SMART
PDZ	403	475	1.4e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000034621
AA Change: V897A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: V897A

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.1e-22	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168499
AA Change: V897A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: V897A

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.3e-23	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169651
AA Change: V897A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: V897A

Domain	Start	End	E-Value	Type
Pfam:NACHT	160	325	1.3e-23	PFAM
low complexity region	543	556	N/A	INTRINSIC
LRR	695	722	1.66e2	SMART
LRR	749	776	3.59e1	SMART
LRR	778	805	6.23e-2	SMART
LRR	806	833	1.13e0	SMART
LRR	834	861	1.99e1	SMART
LRR	862	885	8.11e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213186

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215389

Meta Mutation Damage Score

0.1010

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to viral infection. [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
Adat1	A	G	8: 111,990,418		probably benign	Het
Bbs2	A	G	8: 94,081,177		probably benign	Het
Bcl9	A	C	3: 97,207,202	D1035E	probably damaging	Het
Bmpr2	A	G	1: 59,813,603	E31G	possibly damaging	Het
Borcs5	A	G	6: 134,710,174	D164G	probably damaging	Het
Cap2	A	G	13: 46,637,899	R181G	probably damaging	Het
Ccdc113	A	T	8: 95,538,246	H128L	probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Chat	C	T	14: 32,424,191	V342I	probably benign	Het
Chrm4	C	T	2: 91,927,493	A82V	probably benign	Het
Cyp2d22	A	T	15: 82,375,827	M52K	probably benign	Het
Dennd2c	T	C	3: 103,131,698	V54A	probably benign	Het
Dgka	C	T	10: 128,720,466	G717D	probably damaging	Het
Dnah1	C	T	14: 31,265,391	W3550*	probably null	Het
Eif2ak1	A	G	5: 143,884,714	T283A	probably benign	Het
Fam189a1	A	T	7: 64,775,768	I192N	possibly damaging	Het
Fcgbp	A	T	7: 28,094,192	Y1173F	probably benign	Het
Flt1	G	A	5: 147,655,093		probably benign	Het
Gpr149	T	C	3: 62,530,795	K647R	probably benign	Het
Gsdma2	T	C	11: 98,650,918	V157A	probably benign	Het
Heatr4	T	A	12: 83,955,020	I884F	probably damaging	Het
Il17ra	A	G	6: 120,482,216	E776G	probably benign	Het
Inpp5d	T	C	1: 87,676,314	S235P	probably benign	Het
Iqgap3	T	A	3: 88,083,928		probably null	Het
Isoc2a	T	A	7: 4,892,087	D171E	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Kcnk12	T	C	17: 87,797,132	D108G	possibly damaging	Het
Klra9	A	T	6: 130,182,382		probably null	Het
Lgmn	A	G	12: 102,395,821		probably benign	Het
Morf4l1	A	T	9: 90,095,214		probably benign	Het
Mthfr	T	C	4: 148,051,927	I380T	probably damaging	Het
Mybpc1	T	C	10: 88,551,542	I436V	probably benign	Het
Naip5	A	G	13: 100,212,770	V1350A	probably damaging	Het
Neil2	A	T	14: 63,186,077	C36S	possibly damaging	Het
Nod2	A	T	8: 88,652,873	M8L	probably damaging	Het
Nop2	A	G	6: 125,134,639	T112A	probably benign	Het
Nrap	T	A	19: 56,357,353	T608S	probably damaging	Het
Nuak2	A	T	1: 132,330,602	H257L	probably damaging	Het
Olfr1218	A	T	2: 89,054,547	M293K	probably benign	Het
Olfr1475	T	C	19: 13,479,694	N168S	probably benign	Het
Olfr209	A	T	16: 59,362,113	V35D	probably damaging	Het
Olfr417	T	C	1: 174,369,570	F218L	probably benign	Het
Olfr671	T	C	7: 104,975,899	I33V	possibly damaging	Het
Olfr693	T	C	7: 106,678,219	D89G	probably benign	Het
Olfr889	T	A	9: 38,116,567	M257K	possibly damaging	Het
Pde1a	T	C	2: 79,865,721	E358G	probably damaging	Het
Pdlim1	A	T	19: 40,223,137	S237R	probably damaging	Het
Pithd1	T	C	4: 135,987,029	D36G	probably damaging	Het
Ppp2r3a	A	G	9: 101,211,777	F449S	probably benign	Het
Prr11	G	A	11: 87,098,754	R264C	possibly damaging	Het
Rbm43	A	T	2: 51,925,536	H224Q	probably benign	Het
Rfx5	C	T	3: 94,957,292	L250F	probably damaging	Het
Rgs22	T	A	15: 36,103,836	I160L	probably benign	Het
Rorb	T	A	19: 18,952,203	Q393H	probably damaging	Het
Rpl13a	T	A	7: 45,125,995	K368*	probably null	Het
Scaf8	T	G	17: 3,169,371	S276R	unknown	Het
Scube2	A	T	7: 109,809,214	N675K	probably benign	Het
Sec22c	A	T	9: 121,688,254	M126K	possibly damaging	Het
Serpinb11	T	C	1: 107,369,480	F29L	probably damaging	Het
Sis	A	G	3: 72,921,004	F1217S	probably damaging	Het
Slc18a2	A	G	19: 59,274,653	D294G	possibly damaging	Het
Slc9c1	A	G	16: 45,593,472	T988A	possibly damaging	Het
Smndc1	A	C	19: 53,383,555		probably null	Het
Sned1	G	A	1: 93,265,073	G361S	probably damaging	Het
Spatc1	A	T	15: 76,284,875		probably null	Het
Stab2	A	T	10: 86,960,316	C356S	probably damaging	Het
Stk4	C	T	2: 164,100,528	T360M	probably benign	Het
Tbc1d30	A	T	10: 121,306,230		probably null	Het
Tenm3	T	C	8: 48,228,591	E2668G	probably damaging	Het
Tigar	A	G	6: 127,087,926	V253A	possibly damaging	Het
Tmc2	T	A	2: 130,214,664		probably benign	Het
Ttc26	C	A	6: 38,410,803	N396K	probably benign	Het
Ugt1a10	A	T	1: 88,056,047	Y189F	probably damaging	Het
Vmn2r82	A	G	10: 79,378,846	D221G	probably damaging	Het
Xkr5	C	T	8: 18,941,981	V131M	probably damaging	Het

Other mutations in Nlrx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Nlrx1	APN	9	44253279	missense	probably damaging	0.96
IGL00233:Nlrx1	APN	9	44264068	missense	probably benign	0.37
IGL02388:Nlrx1	APN	9	44264005	missense	probably benign	0.09
IGL02450:Nlrx1	APN	9	44253501	missense	probably benign
IGL03353:Nlrx1	APN	9	44256593	missense	probably benign
R0180:Nlrx1	UTSW	9	44255459	missense	possibly damaging	0.95
R0416:Nlrx1	UTSW	9	44262914	missense	probably benign
R1478:Nlrx1	UTSW	9	44264077	missense	probably benign	0.04
R1762:Nlrx1	UTSW	9	44263640	missense	possibly damaging	0.49
R1921:Nlrx1	UTSW	9	44254134	nonsense	probably null
R2050:Nlrx1	UTSW	9	44262780	missense	probably damaging	1.00
R2100:Nlrx1	UTSW	9	44262608	missense	probably damaging	1.00
R3967:Nlrx1	UTSW	9	44255425	splice site	probably benign
R3968:Nlrx1	UTSW	9	44255425	splice site	probably benign
R3969:Nlrx1	UTSW	9	44255425	splice site	probably benign
R4898:Nlrx1	UTSW	9	44256897	missense	probably benign
R4951:Nlrx1	UTSW	9	44253429	missense	possibly damaging	0.81
R4956:Nlrx1	UTSW	9	44262612	nonsense	probably null
R4959:Nlrx1	UTSW	9	44254151	missense	possibly damaging	0.79
R5235:Nlrx1	UTSW	9	44263750	missense	probably damaging	0.99
R5536:Nlrx1	UTSW	9	44263886	missense	probably damaging	1.00
R6030:Nlrx1	UTSW	9	44263760	missense	probably damaging	1.00
R6030:Nlrx1	UTSW	9	44263760	missense	probably damaging	1.00
R6698:Nlrx1	UTSW	9	44265807	missense	probably damaging	1.00
R7130:Nlrx1	UTSW	9	44262341	missense	possibly damaging	0.83
R7253:Nlrx1	UTSW	9	44264704	splice site	probably null
R7457:Nlrx1	UTSW	9	44256510	missense	probably benign	0.28
R7863:Nlrx1	UTSW	9	44265212	missense	probably benign
R7937:Nlrx1	UTSW	9	44264789	missense	probably damaging	1.00
R8534:Nlrx1	UTSW	9	44262773	missense	probably benign	0.32
R8773:Nlrx1	UTSW	9	44256415	missense	probably benign
R8939:Nlrx1	UTSW	9	44255464	missense	probably damaging	1.00
R8993:Nlrx1	UTSW	9	44256941	splice site	probably benign
R9004:Nlrx1	UTSW	9	44256347	missense	probably benign	0.07
R9215:Nlrx1	UTSW	9	44254028	missense	probably benign
R9310:Nlrx1	UTSW	9	44253408	missense	probably damaging	1.00
X0023:Nlrx1	UTSW	9	44256563	missense	probably damaging	1.00
Z1176:Nlrx1	UTSW	9	44256923	missense	possibly damaging	0.51
Z1177:Nlrx1	UTSW	9	44256752	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- GCTCCAGAAGAGTCTTGACC -3'
(R):5'- CAGGGAATTGTAAGGCTTCCTGG -3'

Sequencing Primer
(F):5'- AGAAGAGTCTTGACCTCGCC -3'
(R):5'- GCTCTCTGCCTATCCACCTGG -3'

Posted On

2014-08-25