Incidental Mutation 'R5235:Nlrx1'
ID 398310
Institutional Source Beutler Lab
Gene Symbol Nlrx1
Ensembl Gene ENSMUSG00000032109
Gene Name NLR family member X1
Synonyms
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44164014-44179896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44175047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 243 (G243D)
Ref Sequence ENSEMBL: ENSMUSP00000126555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034621] [ENSMUST00000168499] [ENSMUST00000169651] [ENSMUST00000213803] [ENSMUST00000217465]
AlphaFold Q3TL44
Predicted Effect probably damaging
Transcript: ENSMUST00000034621
AA Change: G243D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: G243D

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 damaging
Transcript: ENSMUST00000168499
AA Change: G243D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: G243D

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 damaging
Transcript: ENSMUST00000169651
AA Change: G243D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: G243D

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: ENSMUST00000213764
Predicted Effect probably benign
Transcript: ENSMUST00000213803
Predicted Effect probably benign
Transcript: ENSMUST00000217465
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aga A G 8: 53,967,361 (GRCm39) H124R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V 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
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'- TCCCCATTGGACAGGTTAAGG -3'
(R):5'- TACTGGCAAGAGCACGTTGG -3'

Sequencing Primer
(F):5'- CCCATTGGACAGGTTAAGGAACAG -3'
(R):5'- CTTAGACTGGTGTTACGGGAGAC -3'
Posted On 2016-07-06