Incidental Mutation 'IGL03353:Nlrx1'
| ID |
419821 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrx1
|
| Ensembl Gene |
ENSMUSG00000032109 |
| Gene Name |
NLR family member X1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
IGL03353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44164014-44179896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44167890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 669
(V669A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034621]
[ENSMUST00000168499]
[ENSMUST00000169651]
|
| AlphaFold |
Q3TL44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034621
AA Change: V669A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: V669A
| 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: V669A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: V669A
| 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: V669A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: V669A
| 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 |
noncoding transcript
Transcript: ENSMUST00000215389
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
G |
4: 40,175,893 (GRCm39) |
I176V |
probably damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,358,777 (GRCm39) |
T73A |
probably benign |
Het |
| Btaf1 |
G |
T |
19: 36,969,900 (GRCm39) |
L1191F |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,718,331 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,376,022 (GRCm39) |
T624A |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,679,366 (GRCm39) |
V537A |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,867,757 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
T |
13: 38,370,671 (GRCm39) |
Y858F |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,249,751 (GRCm39) |
Y550H |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,261,926 (GRCm39) |
K204E |
probably damaging |
Het |
| Frrs1l |
G |
A |
4: 56,968,121 (GRCm39) |
T217M |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,807,737 (GRCm39) |
S1352N |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,004,795 (GRCm39) |
D1177G |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,801 (GRCm39) |
V44I |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,023,533 (GRCm39) |
M393T |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,447,991 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
G |
T |
14: 75,095,482 (GRCm39) |
H119Q |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,231,788 (GRCm39) |
N84I |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,917 (GRCm39) |
N158S |
probably benign |
Het |
| Polk |
C |
T |
13: 96,625,719 (GRCm39) |
A362T |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,192,063 (GRCm39) |
L403* |
probably null |
Het |
| Skint5 |
T |
C |
4: 113,599,379 (GRCm39) |
D720G |
unknown |
Het |
| Snx6 |
A |
G |
12: 54,812,469 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
A |
T |
11: 116,581,128 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
A |
T |
X: 49,959,275 (GRCm39) |
D62V |
probably damaging |
Het |
| Tgds |
G |
A |
14: 118,364,919 (GRCm39) |
Q101* |
probably null |
Het |
| Tmem135 |
C |
A |
7: 88,791,161 (GRCm39) |
R421L |
probably damaging |
Het |
| Tspyl4 |
T |
A |
10: 34,174,135 (GRCm39) |
V209E |
probably damaging |
Het |
| Tulp2 |
C |
A |
7: 45,165,696 (GRCm39) |
P98Q |
probably damaging |
Het |
| Txk |
C |
T |
5: 72,893,745 (GRCm39) |
V12I |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,259,119 (GRCm39) |
T398A |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,776 (GRCm39) |
T276A |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,202,781 (GRCm39) |
A1123V |
possibly damaging |
Het |
| Zfp60 |
T |
A |
7: 27,447,759 (GRCm39) |
Y142* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation