Mutagenetix > Incidental Mutation

Incidental Mutation 'R0416:Nlrx1'

40325

Institutional Source

Beutler Lab

Gene Symbol

Nlrx1

Ensembl Gene

ENSMUSG00000032109

Gene Name

NLR family member X1

Synonyms

MMRRC Submission

038618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R0416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44164014-44179896 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44174211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 330 (D330A)

Ref Sequence

ENSEMBL: ENSMUSP00000126555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034621] [ENSMUST00000168499] [ENSMUST00000169651] [ENSMUST00000213803] [ENSMUST00000217465]

AlphaFold

Q3TL44

Predicted Effect

probably benign
Transcript: ENSMUST00000034621
AA Change: D330A

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

SMART Domains

Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: D330A

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: D330A

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

SMART Domains

Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: D330A

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: D330A

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

SMART Domains

Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: D330A

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: ENSMUST00000213764

Predicted Effect

probably benign
Transcript: ENSMUST00000213803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215389

Predicted Effect

probably benign
Transcript: ENSMUST00000217465

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 91.8%

Validation Efficiency

99% (74/75)

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
Acsm2	A	G	7: 119,162,779 (GRCm39)	I18V	probably benign	Het
Adamdec1	T	G	14: 68,806,161 (GRCm39)	E438A	possibly damaging	Het
Adamts17	A	G	7: 66,565,646 (GRCm39)		probably null	Het
Ankrd44	T	G	1: 54,782,498 (GRCm39)	I359L	possibly damaging	Het
Ap2s1	C	A	7: 16,481,290 (GRCm39)	N86K	probably damaging	Het
Arih1	T	A	9: 59,333,993 (GRCm39)		probably benign	Het
Astn1	T	A	1: 158,337,461 (GRCm39)	I389N	probably damaging	Het
Brca2	T	C	5: 150,492,857 (GRCm39)	S3291P	possibly damaging	Het
Cacna1d	T	C	14: 29,822,645 (GRCm39)		probably benign	Het
Ccl7	C	A	11: 81,936,692 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,944,486 (GRCm39)	Y232F	possibly damaging	Het
Cep128	A	G	12: 91,197,641 (GRCm39)		probably benign	Het
Cep89	T	A	7: 35,115,827 (GRCm39)		probably benign	Het
Cmya5	T	G	13: 93,226,364 (GRCm39)	N2908T	probably benign	Het
Coil	T	C	11: 88,872,812 (GRCm39)	L391S	possibly damaging	Het
Cpd	C	T	11: 76,676,030 (GRCm39)	V1208I	probably benign	Het
Ddx19a	T	C	8: 111,705,689 (GRCm39)	D254G	probably damaging	Het
Desi2	T	A	1: 178,083,887 (GRCm39)		probably benign	Het
Dnah11	A	T	12: 117,874,793 (GRCm39)	M4024K	probably damaging	Het
Ergic2	A	T	6: 148,084,642 (GRCm39)	L53H	probably damaging	Het
Etv2	T	C	7: 30,334,058 (GRCm39)	Y225C	probably benign	Het
F10	G	A	8: 13,105,448 (GRCm39)	A338T	probably damaging	Het
Fam228b	T	A	12: 4,812,382 (GRCm39)	D132V	probably damaging	Het
Fat2	T	A	11: 55,174,960 (GRCm39)	I1918F	possibly damaging	Het
Fbxw5	C	T	2: 25,393,251 (GRCm39)	S214F	probably damaging	Het
Glyat	G	A	19: 12,628,817 (GRCm39)	R204Q	possibly damaging	Het
Gm4825	T	C	15: 85,395,182 (GRCm39)		noncoding transcript	Het
Ino80d	G	T	1: 63,125,435 (GRCm39)	T9K	possibly damaging	Het
Lifr	A	T	15: 7,196,395 (GRCm39)	D193V	probably damaging	Het
Lrp12	G	T	15: 39,742,307 (GRCm39)		probably benign	Het
Lrp3	A	G	7: 34,901,778 (GRCm39)	V701A	probably benign	Het
Mfsd11	T	A	11: 116,756,708 (GRCm39)		probably benign	Het
Mrto4	A	T	4: 139,077,043 (GRCm39)		probably null	Het
Msi1	T	C	5: 115,568,708 (GRCm39)	F43L	possibly damaging	Het
Mthfsd	T	C	8: 121,827,976 (GRCm39)	D168G	probably damaging	Het
Myo15a	T	A	11: 60,402,000 (GRCm39)	V3099E	probably damaging	Het
Myrf	T	C	19: 10,193,176 (GRCm39)		probably null	Het
Nadk	C	A	4: 155,672,256 (GRCm39)		probably benign	Het
Nav1	T	C	1: 135,398,864 (GRCm39)	K573E	possibly damaging	Het
Ndufs3	A	G	2: 90,728,732 (GRCm39)	V207A	probably damaging	Het
Nlrp3	T	C	11: 59,446,750 (GRCm39)		probably benign	Het
Or2a56	G	A	6: 42,932,504 (GRCm39)	C24Y	probably benign	Het
Or2t49	T	C	11: 58,393,222 (GRCm39)	I53M	unknown	Het
Osbpl3	C	T	6: 50,324,998 (GRCm39)	V167I	probably benign	Het
Pcnx1	A	T	12: 82,021,240 (GRCm39)	I1410F	probably benign	Het
Piezo2	G	A	18: 63,157,562 (GRCm39)	R2383C	probably damaging	Het
Pip5kl1	A	T	2: 32,473,436 (GRCm39)	K358*	probably null	Het
Polg	T	C	7: 79,101,988 (GRCm39)		probably benign	Het
Prr14l	T	A	5: 32,986,061 (GRCm39)	I1145F	probably benign	Het
Psmb1	C	T	17: 15,714,781 (GRCm39)	V39I	probably benign	Het
Ptk6	T	C	2: 180,844,101 (GRCm39)	Y66C	possibly damaging	Het
Robo4	T	C	9: 37,316,062 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,694,029 (GRCm39)	Y1801H	probably damaging	Het
Serpinb3a	C	A	1: 106,977,116 (GRCm39)	A95S	probably benign	Het
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,384,469 (GRCm39)		probably benign	Het
Sik2	A	T	9: 50,906,932 (GRCm39)	Y98N	probably damaging	Het
Slc30a1	C	T	1: 191,641,838 (GRCm39)	P495S	probably benign	Het
Smg1	A	T	7: 117,783,684 (GRCm39)		probably benign	Het
Stk3	T	A	15: 35,114,778 (GRCm39)	I45L	probably benign	Het
Tapbp	A	G	17: 34,144,392 (GRCm39)	T163A	probably damaging	Het
Tdrd5	T	C	1: 156,113,051 (GRCm39)	K410E	probably damaging	Het
Trim30b	A	T	7: 104,012,973 (GRCm39)	M152K	probably benign	Het
Trpm6	G	T	19: 18,760,389 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,742,743 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,367,660 (GRCm39)	F444I	probably damaging	Het
Vmn2r95	C	T	17: 18,661,664 (GRCm39)	P470L	probably damaging	Het
Zc3h4	T	G	7: 16,154,200 (GRCm39)	Y163D	probably damaging	Het
Zfp62	A	T	11: 49,106,503 (GRCm39)	H198L	probably damaging	Het
Zmym1	A	G	4: 126,952,613 (GRCm39)	L56P	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
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
R9215:Nlrx1	UTSW	9	44,165,325 (GRCm39)	missense	probably benign
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'- TGTTTCCCCACTGAAGTTCAGGCG -3'
(R):5'- TTAACCATATCCTTCCCAGGCCAGC -3'

Sequencing Primer
(F):5'- CTTGTGAGGGTCTGACCAGC -3'
(R):5'- AGGCCAGCATTCTGGTAAC -3'

Posted On

2013-05-23