Incidental Mutation 'IGL00233:Nlrx1'
| ID |
306829 |
| 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: 0.148)
|
| Stock # |
IGL00233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44164014-44179896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44175365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 137
(T137I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034621]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213803]
[ENSMUST00000217465]
|
| AlphaFold |
Q3TL44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034621
AA Change: T137I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: T137I
| 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: T137I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: T137I
| 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: T137I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: T137I
| 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
AA Change: T137I
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217465
AA Change: T137I
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| 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 |
|---|
| Aimp1 |
A |
T |
3: 132,382,904 (GRCm39) |
|
probably benign |
Het |
| Arpc5 |
A |
G |
1: 152,644,658 (GRCm39) |
I64V |
probably benign |
Het |
| C030048H21Rik |
G |
A |
2: 26,146,632 (GRCm39) |
R1227W |
probably damaging |
Het |
| Cacnb1 |
T |
C |
11: 97,913,190 (GRCm39) |
E21G |
possibly damaging |
Het |
| Catsper3 |
A |
G |
13: 55,946,635 (GRCm39) |
K111E |
possibly damaging |
Het |
| Cda |
T |
C |
4: 138,095,157 (GRCm39) |
Y33C |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,726,124 (GRCm39) |
R3118W |
probably damaging |
Het |
| Clvs1 |
G |
A |
4: 9,281,939 (GRCm39) |
G128R |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,306 (GRCm39) |
S163G |
unknown |
Het |
| Cyp4v3 |
T |
C |
8: 45,760,040 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
A |
1: 34,290,920 (GRCm39) |
L837M |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,294,536 (GRCm39) |
I1349N |
probably damaging |
Het |
| Elob |
C |
A |
17: 24,043,954 (GRCm39) |
|
probably null |
Het |
| Glipr1 |
T |
A |
10: 111,821,555 (GRCm39) |
I216L |
probably benign |
Het |
| Gm3238 |
C |
T |
10: 77,607,126 (GRCm39) |
|
probably benign |
Het |
| Gm43638 |
C |
T |
5: 87,608,258 (GRCm39) |
R527H |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,858,445 (GRCm39) |
K80E |
probably benign |
Het |
| Htt |
A |
G |
5: 35,053,370 (GRCm39) |
|
probably null |
Het |
| Kif26a |
A |
G |
12: 112,124,066 (GRCm39) |
S224G |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,822,488 (GRCm39) |
M74K |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,724 (GRCm39) |
V89D |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,035 (GRCm39) |
T394A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,340,982 (GRCm39) |
I151T |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,445,695 (GRCm39) |
V50A |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,599,787 (GRCm39) |
F750S |
probably damaging |
Het |
| Psmd13 |
T |
C |
7: 140,477,534 (GRCm39) |
V311A |
probably damaging |
Het |
| Rec8 |
C |
T |
14: 55,860,972 (GRCm39) |
Q334* |
probably null |
Het |
| Rfx7 |
G |
A |
9: 72,514,972 (GRCm39) |
V157I |
probably damaging |
Het |
| Sele |
G |
A |
1: 163,879,403 (GRCm39) |
C312Y |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
| Tma16 |
G |
T |
8: 66,933,097 (GRCm39) |
Q95K |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,362,890 (GRCm39) |
D288G |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,828 (GRCm39) |
I29N |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,389 (GRCm39) |
L750* |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation