Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Nlrx1'

699132

Institutional Source

Beutler Lab

Gene Symbol

Nlrx1

Ensembl Gene

ENSMUSG00000032109

Gene Name

NLR family member X1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R9215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44164014-44179896 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44165325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 857 (K857R)

Ref Sequence

ENSEMBL: ENSMUSP00000034621 (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: K857R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: K857R

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: K857R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: K857R

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: K857R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: K857R

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo3	G	A	9: 107,931,638 (GRCm39)	A354T	probably damaging	Het
Ano1	A	G	7: 144,149,342 (GRCm39)	S840P	probably damaging	Het
Arap1	A	G	7: 101,049,214 (GRCm39)	Q923R	probably benign	Het
Blk	T	C	14: 63,610,999 (GRCm39)	M448V	probably damaging	Het
Calhm2	C	A	19: 47,121,305 (GRCm39)	R288L	possibly damaging	Het
Card11	A	T	5: 140,866,154 (GRCm39)	M913K	possibly damaging	Het
Carf	A	C	1: 60,189,804 (GRCm39)	E676D	possibly damaging	Het
Ccn5	T	A	2: 163,670,966 (GRCm39)	C158S	probably damaging	Het
Ccr2	A	G	9: 123,906,023 (GRCm39)	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,123,826 (GRCm39)	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,412,134 (GRCm39)	T112A	possibly damaging	Het
Clint1	T	C	11: 45,774,578 (GRCm39)	V28A	probably damaging	Het
Col13a1	C	A	10: 61,685,990 (GRCm39)		probably null	Het
Cryz	G	T	3: 154,324,446 (GRCm39)	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,609,456 (GRCm39)	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,035,950 (GRCm39)	T320I	possibly damaging	Het
Dock7	G	C	4: 98,859,088 (GRCm39)	N1431K	unknown	Het
Fam110c	G	T	12: 31,123,863 (GRCm39)		probably benign	Het
Fbn2	A	T	18: 58,209,747 (GRCm39)	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,167,243 (GRCm39)	R655H	probably damaging	Het
Fhip1b	A	G	7: 105,034,296 (GRCm39)	L445P	possibly damaging	Het
Gbp2	T	C	3: 142,338,036 (GRCm39)		probably null	Het
Hmgcll1	A	G	9: 75,982,083 (GRCm39)	D176G	probably benign	Het
Inafm1	A	T	7: 16,007,055 (GRCm39)	I54N	probably damaging	Het
Ipo9	C	G	1: 135,347,033 (GRCm39)	M152I	probably benign	Het
Khdrbs3	C	T	15: 68,964,798 (GRCm39)	T333M	probably damaging	Het
Lefty2	A	G	1: 180,725,145 (GRCm39)	T292A	probably benign	Het
Lgr5	T	C	10: 115,311,085 (GRCm39)	E237G	probably damaging	Het
Lrig2	T	A	3: 104,398,324 (GRCm39)	E268D	probably benign	Het
Mbtd1	T	A	11: 93,834,628 (GRCm39)	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,484,035 (GRCm39)	V828A	possibly damaging	Het
Ncapd3	C	A	9: 26,975,386 (GRCm39)	Q812K	possibly damaging	Het
Or2b28	C	T	13: 21,532,004 (GRCm39)	A302V	probably damaging	Het
Or4d6	A	T	19: 12,086,016 (GRCm39)	M72K	probably damaging	Het
Or4k1	T	C	14: 50,377,829 (GRCm39)	Y89C	probably benign	Het
Or8b1c	C	T	9: 38,384,694 (GRCm39)	S217F	probably damaging	Het
P4ha2	T	C	11: 54,017,226 (GRCm39)	F456L	probably benign	Het
Pakap	T	A	4: 57,709,595 (GRCm39)	V180E	probably damaging	Het
Pard3b	A	G	1: 62,203,344 (GRCm39)	D424G	probably damaging	Het
Pecam1	A	G	11: 106,579,797 (GRCm39)	S422P	probably damaging	Het
Pias2	T	A	18: 77,216,677 (GRCm39)	V296E	probably damaging	Het
Plekha5	T	A	6: 140,501,733 (GRCm39)	S640R	possibly damaging	Het
Prdx2	A	G	8: 85,697,932 (GRCm39)	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,960,204 (GRCm39)	E113K	probably benign	Het
Pxylp1	A	T	9: 96,707,111 (GRCm39)	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471 (GRCm39)	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,812,268 (GRCm39)	V226F	possibly damaging	Het
Rel	T	C	11: 23,698,870 (GRCm39)	D139G	probably benign	Het
Rnf214	C	T	9: 45,816,129 (GRCm39)	D28N	probably benign	Het
Slc26a5	A	G	5: 22,042,285 (GRCm39)	S224P	possibly damaging	Het
Slc39a6	C	T	18: 24,732,323 (GRCm39)	A322T	probably benign	Het
Slc47a1	T	C	11: 61,262,647 (GRCm39)	I81V	probably benign	Het
Smad5	T	A	13: 56,880,815 (GRCm39)	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,240,701 (GRCm39)	D241G	probably benign	Het
Spata16	C	T	3: 26,721,994 (GRCm39)	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,875,823 (GRCm39)	Q571K	probably benign	Het
Speer1e	A	T	5: 11,236,449 (GRCm39)	I161F	possibly damaging	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,085,223 (GRCm39)	F381I	probably damaging	Het
Tjp1	T	C	7: 64,962,595 (GRCm39)	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,864,180 (GRCm39)	I762T	probably damaging	Het
Tnxb	A	G	17: 34,891,564 (GRCm39)	T636A	unknown	Het
Trat1	T	A	16: 48,574,637 (GRCm39)	R54*	probably null	Het
Tubb4a	A	T	17: 57,387,769 (GRCm39)	V419E	probably damaging	Het
Txn2	A	T	15: 77,803,965 (GRCm39)	W84R	unknown	Het
Uggt2	A	G	14: 119,279,006 (GRCm39)	Y834H	probably damaging	Het
Upp2	T	C	2: 58,670,065 (GRCm39)	L257P	probably damaging	Het
Vmn2r67	C	T	7: 84,802,008 (GRCm39)	V98I	probably benign	Het
Zfp354c	T	C	11: 50,706,666 (GRCm39)	I136M	probably benign	Het

Other mutations in Nlrx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Nlrx1	APN	9	44,164,576 (GRCm39)	missense	probably damaging	0.96
IGL00233:Nlrx1	APN	9	44,175,365 (GRCm39)	missense	probably benign	0.37
IGL02388:Nlrx1	APN	9	44,175,302 (GRCm39)	missense	probably benign	0.09
IGL02450:Nlrx1	APN	9	44,164,798 (GRCm39)	missense	probably benign
IGL03353:Nlrx1	APN	9	44,167,890 (GRCm39)	missense	probably benign
R0180:Nlrx1	UTSW	9	44,166,756 (GRCm39)	missense	possibly damaging	0.95
R0416:Nlrx1	UTSW	9	44,174,211 (GRCm39)	missense	probably benign
R1478:Nlrx1	UTSW	9	44,175,374 (GRCm39)	missense	probably benign	0.04
R1762:Nlrx1	UTSW	9	44,174,937 (GRCm39)	missense	possibly damaging	0.49
R1921:Nlrx1	UTSW	9	44,165,431 (GRCm39)	nonsense	probably null
R1972:Nlrx1	UTSW	9	44,164,753 (GRCm39)	missense	probably benign	0.01
R2050:Nlrx1	UTSW	9	44,174,077 (GRCm39)	missense	probably damaging	1.00
R2100:Nlrx1	UTSW	9	44,173,905 (GRCm39)	missense	probably damaging	1.00
R3967:Nlrx1	UTSW	9	44,166,722 (GRCm39)	splice site	probably benign
R3968:Nlrx1	UTSW	9	44,166,722 (GRCm39)	splice site	probably benign
R3969:Nlrx1	UTSW	9	44,166,722 (GRCm39)	splice site	probably benign
R4898:Nlrx1	UTSW	9	44,168,194 (GRCm39)	missense	probably benign
R4951:Nlrx1	UTSW	9	44,164,726 (GRCm39)	missense	possibly damaging	0.81
R4956:Nlrx1	UTSW	9	44,173,909 (GRCm39)	nonsense	probably null
R4959:Nlrx1	UTSW	9	44,165,448 (GRCm39)	missense	possibly damaging	0.79
R5235:Nlrx1	UTSW	9	44,175,047 (GRCm39)	missense	probably damaging	0.99
R5536:Nlrx1	UTSW	9	44,175,183 (GRCm39)	missense	probably damaging	1.00
R6030:Nlrx1	UTSW	9	44,175,057 (GRCm39)	missense	probably damaging	1.00
R6030:Nlrx1	UTSW	9	44,175,057 (GRCm39)	missense	probably damaging	1.00
R6698:Nlrx1	UTSW	9	44,177,104 (GRCm39)	missense	probably damaging	1.00
R7130:Nlrx1	UTSW	9	44,173,638 (GRCm39)	missense	possibly damaging	0.83
R7253:Nlrx1	UTSW	9	44,176,001 (GRCm39)	splice site	probably null
R7457:Nlrx1	UTSW	9	44,167,807 (GRCm39)	missense	probably benign	0.28
R7863:Nlrx1	UTSW	9	44,176,509 (GRCm39)	missense	probably benign
R7937:Nlrx1	UTSW	9	44,176,086 (GRCm39)	missense	probably damaging	1.00
R8534:Nlrx1	UTSW	9	44,174,070 (GRCm39)	missense	probably benign	0.32
R8773:Nlrx1	UTSW	9	44,167,712 (GRCm39)	missense	probably benign
R8939:Nlrx1	UTSW	9	44,166,761 (GRCm39)	missense	probably damaging	1.00
R8993:Nlrx1	UTSW	9	44,168,238 (GRCm39)	splice site	probably benign
R9004:Nlrx1	UTSW	9	44,167,644 (GRCm39)	missense	probably benign	0.07
R9310:Nlrx1	UTSW	9	44,164,705 (GRCm39)	missense	probably damaging	1.00
X0023:Nlrx1	UTSW	9	44,167,860 (GRCm39)	missense	probably damaging	1.00
Z1176:Nlrx1	UTSW	9	44,168,220 (GRCm39)	missense	possibly damaging	0.51
Z1177:Nlrx1	UTSW	9	44,168,049 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- AGGACTTGGGTTAGCTCAGC -3'
(R):5'- ACGTCCTAACACCCAGTTTG -3'

Sequencing Primer
(F):5'- ACTTGGGTTAGCTCAGCACTCAG -3'
(R):5'- AACTGCAGGAGCTGAAC -3'

Posted On

2022-02-07