Incidental Mutation 'R7457:Nlrx1'
ID 578207
Institutional Source Beutler Lab
Gene Symbol Nlrx1
Ensembl Gene ENSMUSG00000032109
Gene Name NLR family member X1
Synonyms
MMRRC Submission 045531-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R7457 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 44164014-44179896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44167807 bp (GRCm39)
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]
AlphaFold Q3TL44
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

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 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

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 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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,374,635 (GRCm39) H452Q probably damaging Het
Adcy8 A T 15: 64,792,529 (GRCm39) N142K possibly damaging Het
Alkbh8 T A 9: 3,343,056 (GRCm39) S57R probably damaging Het
Atp4a A G 7: 30,420,192 (GRCm39) T780A probably benign Het
Atp9b A T 18: 80,960,833 (GRCm39) probably null Het
Cdyl2 A T 8: 117,305,935 (GRCm39) V442E probably damaging Het
Ces2a C T 8: 105,464,021 (GRCm39) R218C possibly damaging Het
Cfap57 A T 4: 118,446,198 (GRCm39) V688E probably damaging Het
Clec11a T C 7: 43,955,379 (GRCm39) T139A probably benign Het
Clstn1 A T 4: 149,719,373 (GRCm39) T411S probably benign Het
Commd5 A T 15: 76,784,824 (GRCm39) S74C probably damaging Het
Cyp3a59 C A 5: 146,041,560 (GRCm39) P368Q probably damaging Het
Dennd4b A G 3: 90,176,622 (GRCm39) M309V probably benign Het
Dhrs9 T A 2: 69,231,611 (GRCm39) V257E probably benign Het
Dhx16 T C 17: 36,201,952 (GRCm39) V993A probably damaging Het
Dok5 A T 2: 170,712,735 (GRCm39) Q247L probably benign Het
E330034G19Rik A T 14: 24,359,582 (GRCm39) E331V unknown Het
Efs A G 14: 55,157,451 (GRCm39) S287P probably benign Het
Fbn1 T C 2: 125,193,667 (GRCm39) N1384S possibly damaging Het
Flt4 A G 11: 49,521,155 (GRCm39) E388G possibly damaging Het
Fmn2 T A 1: 174,331,303 (GRCm39) probably null Het
Fmo4 T C 1: 162,621,672 (GRCm39) Y513C probably benign Het
Gbp4 T C 5: 105,267,419 (GRCm39) E500G probably damaging Het
Gm29106 T C 1: 118,126,982 (GRCm39) S225P probably damaging Het
Gstt2 G A 10: 75,668,354 (GRCm39) R134W probably damaging Het
Gucy1b2 T C 14: 62,630,401 (GRCm39) T782A probably benign Het
Gzf1 G T 2: 148,532,002 (GRCm39) R543L probably damaging Het
H2-Eb2 G A 17: 34,553,321 (GRCm39) G169E probably damaging Het
Hdhd3 T A 4: 62,418,027 (GRCm39) R50W probably damaging Het
Hdlbp T C 1: 93,355,944 (GRCm39) K407E probably benign Het
Isl2 A G 9: 55,452,240 (GRCm39) T271A probably benign Het
Kbtbd7 GTCTCTC GTC 14: 79,665,364 (GRCm39) probably null Het
Kdm4b T A 17: 56,703,319 (GRCm39) N671K probably damaging Het
Lats1 T A 10: 7,586,655 (GRCm39) L939H probably damaging Het
Map3k1 A T 13: 111,892,789 (GRCm39) M822K probably damaging Het
Mettl18 C A 1: 163,824,330 (GRCm39) T217N probably damaging Het
Nav3 A T 10: 109,532,189 (GRCm39) Y2083* probably null Het
Nckap1l T C 15: 103,362,233 (GRCm39) probably benign Het
Nkx2-3 A G 19: 43,600,986 (GRCm39) D16G probably damaging Het
Or14j4 T C 17: 37,921,456 (GRCm39) K62R possibly damaging Het
Or1e29 G C 11: 73,667,652 (GRCm39) S167C probably benign Het
Or4k6 A T 14: 50,475,825 (GRCm39) N172K probably damaging Het
Or6c75 T C 10: 129,337,575 (GRCm39) V266A probably damaging Het
Pappa A T 4: 65,107,503 (GRCm39) D638V probably damaging Het
Pot1a T C 6: 25,771,621 (GRCm39) D200G probably benign Het
Ptprs G T 17: 56,726,502 (GRCm39) T1366K probably damaging Het
Sass6 A T 3: 116,413,813 (GRCm39) R505S probably benign Het
Slc30a6 T C 17: 74,714,233 (GRCm39) I84T probably benign Het
Sox10 A T 15: 79,040,339 (GRCm39) F400L probably benign Het
Spata31d1b A T 13: 59,864,723 (GRCm39) I624F probably damaging Het
Stpg4 A G 17: 87,735,006 (GRCm39) probably null Het
Tbc1d9 G T 8: 83,963,309 (GRCm39) K340N probably damaging Het
Tspan12 T A 6: 21,772,682 (GRCm39) H289L probably benign Het
Ubr1 T A 2: 120,748,309 (GRCm39) T809S probably benign Het
Vmn1r43 C T 6: 89,847,172 (GRCm39) V105M probably damaging Het
Vmn1r49 A G 6: 90,049,534 (GRCm39) V156A probably benign Het
Wnt5a A G 14: 28,240,236 (GRCm39) probably null Het
Wwp2 T A 8: 108,244,592 (GRCm39) S255T probably benign Het
Zbtb10 A G 3: 9,316,538 (GRCm39) T117A possibly damaging Het
Zfp800 C T 6: 28,244,228 (GRCm39) V246I probably benign Het
Zfp955a G T 17: 33,463,025 (GRCm39) Y35* probably null 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
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
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'- GACTAGTGCTCACCCCAGTTTC -3'
(R):5'- ATGTTCATGGGCGGACTTCTC -3'

Sequencing Primer
(F):5'- AGTTTCCGGGCACGCAG -3'
(R):5'- ATGGGCGGACTTCTCTCTGC -3'
Posted On 2019-10-07