Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Nlrx1'

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1322

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrx1

Ensembl Gene

ENSMUSG00000032109

Gene Name

NLR family member X1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

44252717-44268599 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44253279 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 956 (L956P)

Ref Sequence

ENSEMBL: ENSMUSP00000126555 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000034621
AA Change: L956P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: L956P

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 damaging
Transcript: ENSMUST00000168499
AA Change: L956P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: L956P

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 damaging
Transcript: ENSMUST00000169651
AA Change: L956P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: L956P

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

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Nlrx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
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

Posted On

2011-07-12