Mutagenetix > Incidental Mutations

Incidental Mutation 'R7457:Nlrx1'

578207

Institutional Source

Beutler Lab

Gene Symbol

Nlrx1

Ensembl Gene

ENSMUSG00000032109

Gene Name

NLR family member X1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44252717-44268599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44256510 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 697 (S697P)

Ref Sequence

ENSEMBL: ENSMUSP00000034621 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034621
AA Change: S697P

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: S697P

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: S697P

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: S697P

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: S697P

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: S697P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,884,619	H452Q	probably damaging	Het
Adcy8	A	T	15: 64,920,680	N142K	possibly damaging	Het
Alkbh8	T	A	9: 3,343,056	S57R	probably damaging	Het
Atp4a	A	G	7: 30,720,767	T780A	probably benign	Het
Atp9b	A	T	18: 80,917,618		probably null	Het
Cdyl2	A	T	8: 116,579,196	V442E	probably damaging	Het
Ces2a	C	T	8: 104,737,389	R218C	possibly damaging	Het
Cfap57	A	T	4: 118,589,001	V688E	probably damaging	Het
Clec11a	T	C	7: 44,305,955	T139A	probably benign	Het
Clstn1	A	T	4: 149,634,916	T411S	probably benign	Het
Commd5	A	T	15: 76,900,624	S74C	probably damaging	Het
Cyp3a59	C	A	5: 146,104,750	P368Q	probably damaging	Het
Dennd4b	A	G	3: 90,269,315	M309V	probably benign	Het
Dhrs9	T	A	2: 69,401,267	V257E	probably benign	Het
Dhx16	T	C	17: 35,891,060	V993A	probably damaging	Het
Dok5	A	T	2: 170,870,815	Q247L	probably benign	Het
E330034G19Rik	A	T	14: 24,309,514	E331V	unknown	Het
Efs	A	G	14: 54,919,994	S287P	probably benign	Het
Fbn1	T	C	2: 125,351,747	N1384S	possibly damaging	Het
Flt4	A	G	11: 49,630,328	E388G	possibly damaging	Het
Fmn2	T	A	1: 174,503,737		probably null	Het
Fmo4	T	C	1: 162,794,103	Y513C	probably benign	Het
Gbp4	T	C	5: 105,119,553	E500G	probably damaging	Het
Gm29106	T	C	1: 118,199,252	S225P	probably damaging	Het
Gstt2	G	A	10: 75,832,520	R134W	probably damaging	Het
Gucy1b2	T	C	14: 62,392,952	T782A	probably benign	Het
Gzf1	G	T	2: 148,690,082	R543L	probably damaging	Het
H2-Eb2	G	A	17: 34,334,347	G169E	probably damaging	Het
Hdhd3	T	A	4: 62,499,790	R50W	probably damaging	Het
Hdlbp	T	C	1: 93,428,222	K407E	probably benign	Het
Isl2	A	G	9: 55,544,956	T271A	probably benign	Het
Kbtbd7	GTCTCTC	GTC	14: 79,427,924		probably null	Het
Kdm4b	T	A	17: 56,396,319	N671K	probably damaging	Het
Lats1	T	A	10: 7,710,891	L939H	probably damaging	Het
Map3k1	A	T	13: 111,756,255	M822K	probably damaging	Het
Mettl18	C	A	1: 163,996,761	T217N	probably damaging	Het
Nav3	A	T	10: 109,696,328	Y2083*	probably null	Het
Nckap1l	T	C	15: 103,453,806		probably benign	Het
Nkx2-3	A	G	19: 43,612,547	D16G	probably damaging	Het
Olfr115	T	C	17: 37,610,565	K62R	possibly damaging	Het
Olfr389	G	C	11: 73,776,826	S167C	probably benign	Het
Olfr731	A	T	14: 50,238,368	N172K	probably damaging	Het
Olfr790	T	C	10: 129,501,706	V266A	probably damaging	Het
Pappa	A	T	4: 65,189,266	D638V	probably damaging	Het
Pot1a	T	C	6: 25,771,622	D200G	probably benign	Het
Ptprs	G	T	17: 56,419,502	T1366K	probably damaging	Het
Sass6	A	T	3: 116,620,164	R505S	probably benign	Het
Slc30a6	T	C	17: 74,407,238	I84T	probably benign	Het
Sox10	A	T	15: 79,156,139	F400L	probably benign	Het
Spata31d1b	A	T	13: 59,716,909	I624F	probably damaging	Het
Stpg4	A	G	17: 87,427,578		probably null	Het
Tbc1d9	G	T	8: 83,236,680	K340N	probably damaging	Het
Tspan12	T	A	6: 21,772,683	H289L	probably benign	Het
Ubr1	T	A	2: 120,917,828	T809S	probably benign	Het
Vmn1r43	C	T	6: 89,870,190	V105M	probably damaging	Het
Vmn1r49	A	G	6: 90,072,552	V156A	probably benign	Het
Wnt5a	A	G	14: 28,518,279		probably null	Het
Wwp2	T	A	8: 107,517,960	S255T	probably benign	Het
Zbtb10	A	G	3: 9,251,478	T117A	possibly damaging	Het
Zfp800	C	T	6: 28,244,229	V246I	probably benign	Het
Zfp955a	G	T	17: 33,244,051	Y35*	probably null	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
R1972:Nlrx1	UTSW	9	44253456	missense	probably benign	0.01
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
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
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'- GACTAGTGCTCACCCCAGTTTC -3'
(R):5'- ATGTTCATGGGCGGACTTCTC -3'

Sequencing Primer
(F):5'- AGTTTCCGGGCACGCAG -3'
(R):5'- ATGGGCGGACTTCTCTCTGC -3'

Posted On

2019-10-07