Incidental Mutation 'R1921:Nlrx1'
ID 213068
Institutional Source Beutler Lab
Gene Symbol Nlrx1
Ensembl Gene ENSMUSG00000032109
Gene Name NLR family member X1
Synonyms
MMRRC Submission 039939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R1921 (G1)
Quality Score 220
Status Not validated
Chromosome 9
Chromosomal Location 44164014-44179896 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 44165431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 822 (E822*)
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

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000034621
AA Change: E822*
SMART Domains Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: E822*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000168499
AA Change: E822*
SMART Domains Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: E822*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000169651
AA Change: E822*
SMART Domains Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: E822*

DomainStartEndE-ValueType
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
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.3%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Abhd2 T C 7: 78,998,104 (GRCm39) I212T possibly damaging Het
Adam7 A C 14: 68,750,074 (GRCm39) S449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aox3 T C 1: 58,219,810 (GRCm39) Y1137H probably damaging Het
Atp11b T C 3: 35,888,474 (GRCm39) Y715H probably damaging Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
Btbd7 A G 12: 102,760,055 (GRCm39) I631T probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,372,679 (GRCm39) E458G probably damaging Het
Cptp C T 4: 155,950,995 (GRCm39) R157H probably damaging Het
Dcbld1 A C 10: 52,195,747 (GRCm39) E318D possibly damaging Het
Ddr2 G T 1: 169,831,814 (GRCm39) P197Q probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dlgap2 A G 8: 14,893,624 (GRCm39) K980E probably benign Het
Drc7 T C 8: 95,782,644 (GRCm39) V3A unknown Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
Ect2l T C 10: 18,018,752 (GRCm39) D548G possibly damaging Het
Efcab10 A T 12: 33,448,434 (GRCm39) Y89F probably benign Het
Eif1ad CGAGGAGGAGGAGGAGGAGG CGAGGAGGAGGAGGAGG 19: 5,420,086 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,732 (GRCm39) T147A probably damaging Het
Fbxl5 T A 5: 43,922,832 (GRCm39) E189D probably benign Het
Fer1l6 T A 15: 58,497,080 (GRCm39) S1217T probably damaging Het
Frem2 A T 3: 53,560,916 (GRCm39) V1197D possibly damaging Het
Fsip2 T A 2: 82,811,127 (GRCm39) L2482* probably null Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Gipc3 T A 10: 81,174,049 (GRCm39) I242F probably damaging Het
Hoxb1 T A 11: 96,256,938 (GRCm39) Y96N probably damaging Het
Ibsp A G 5: 104,458,078 (GRCm39) E205G probably damaging Het
Ibtk A G 9: 85,585,135 (GRCm39) S1170P probably benign Het
Igfn1 A G 1: 135,893,801 (GRCm39) probably null Het
Iqsec1 A G 6: 90,639,877 (GRCm39) S954P probably benign Het
Kalrn A T 16: 34,212,463 (GRCm39) D28E probably benign Het
Lrmda T C 14: 22,627,938 (GRCm39) F52L probably damaging Het
Lrp2 T C 2: 69,353,631 (GRCm39) D543G probably damaging Het
Lrrtm3 T C 10: 63,924,157 (GRCm39) T337A probably benign Het
Marf1 C T 16: 13,946,465 (GRCm39) D1219N possibly damaging Het
Mkln1 A G 6: 31,405,113 (GRCm39) K118R probably benign Het
Nedd4l T C 18: 65,300,646 (GRCm39) probably null Het
Neu2 A G 1: 87,525,023 (GRCm39) E336G probably benign Het
Nfasc A G 1: 132,538,543 (GRCm39) F448S probably damaging Het
Nr5a1 T C 2: 38,584,108 (GRCm39) Y437C probably damaging Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or7a37 T A 10: 78,805,975 (GRCm39) L164* probably null Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Phtf1 C T 3: 103,876,438 (GRCm39) Q13* probably null Het
Pnldc1 A G 17: 13,107,815 (GRCm39) L525P possibly damaging Het
Ppl T A 16: 4,923,988 (GRCm39) D162V possibly damaging Het
Prkdc T A 16: 15,532,079 (GRCm39) S1448T possibly damaging Het
Ptgdr A G 14: 45,090,738 (GRCm39) I340T probably benign Het
Recql T C 6: 142,311,315 (GRCm39) I458M probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rtp1 T A 16: 23,250,160 (GRCm39) I175N probably damaging Het
Ryr1 A G 7: 28,754,369 (GRCm39) M3523T probably damaging Het
S100a16 T C 3: 90,449,703 (GRCm39) L62P probably damaging Het
Samd11 T C 4: 156,333,166 (GRCm39) E364G probably damaging Het
Satb1 C A 17: 52,049,143 (GRCm39) G603* probably null Het
Shroom3 T A 5: 93,110,224 (GRCm39) probably null Het
Slc25a15 A G 8: 22,885,777 (GRCm39) S3P probably benign Het
Socs2 A T 10: 95,248,900 (GRCm39) L71* probably null Het
Sptbn1 T C 11: 30,054,469 (GRCm39) E2208G probably damaging Het
St14 A G 9: 31,001,166 (GRCm39) V855A possibly damaging Het
Susd1 T A 4: 59,412,191 (GRCm39) T121S probably benign Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar4 A G 10: 23,837,239 (GRCm39) D283G probably damaging Het
Tango6 T A 8: 107,415,426 (GRCm39) D82E probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tle3 G A 9: 61,318,622 (GRCm39) probably null Het
Tmem45a A G 16: 56,642,665 (GRCm39) F169L probably benign Het
Trp53rkb T A 2: 166,637,743 (GRCm39) V233E probably damaging Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubgcp3 A T 8: 12,671,932 (GRCm39) L770* probably null Het
Tut1 G A 19: 8,943,466 (GRCm39) G851D probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vmn1r125 T A 7: 21,006,530 (GRCm39) Y143N probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r95 T A 17: 18,644,575 (GRCm39) N70K probably benign Het
Vps35l A G 7: 118,432,971 (GRCm39) N568S probably damaging Het
Wdr59 A T 8: 112,213,582 (GRCm39) L311* probably null Het
Wnt2 A G 6: 18,030,252 (GRCm39) L12P unknown Het
Xrn1 T C 9: 95,881,550 (GRCm39) I700T probably benign Het
Ypel1 A G 16: 16,900,443 (GRCm39) H98R probably benign Het
Zfp219 T C 14: 52,245,691 (GRCm39) T434A probably benign Het
Zik1 A C 7: 10,223,943 (GRCm39) C385G probably damaging Het
Other mutations in Nlrx1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGAGTAGGTTCATGCCACCC -3'
(R):5'- CAACGTCCTAACACCCAGTTTG -3'

Sequencing Primer
(F):5'- CCCCCAGGGTAGGAAGAAC -3'
(R):5'- CTTAGGCTCTCCAACAAC -3'
Posted On 2014-07-14