Incidental Mutation 'IGL02388:Nlrx1'
| ID |
291628 |
| 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 # |
IGL02388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44164014-44179896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44175302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 158
(R158H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034621]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213803]
[ENSMUST00000217465]
|
| AlphaFold |
Q3TL44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034621
AA Change: R158H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: R158H
| 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: R158H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: R158H
| 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: R158H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: R158H
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217465
AA Change: R158H
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930597O21Rik |
A |
T |
6: 66,873,097 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Asphd1 |
A |
T |
7: 126,545,884 (GRCm39) |
|
probably benign |
Het |
| Ccdc77 |
G |
A |
6: 120,308,858 (GRCm39) |
A301V |
probably benign |
Het |
| Cep350 |
G |
T |
1: 155,829,499 (GRCm39) |
T135K |
probably benign |
Het |
| Chrna7 |
A |
T |
7: 62,757,439 (GRCm39) |
D153E |
probably damaging |
Het |
| Clec4b2 |
G |
T |
6: 123,179,187 (GRCm39) |
|
probably null |
Het |
| Cyp2c67 |
T |
C |
19: 39,631,799 (GRCm39) |
N133D |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,823,257 (GRCm39) |
I484T |
probably damaging |
Het |
| Dtna |
G |
T |
18: 23,730,571 (GRCm39) |
M319I |
probably benign |
Het |
| E2f5 |
T |
A |
3: 14,653,340 (GRCm39) |
M152K |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,290,873 (GRCm39) |
M58K |
probably damaging |
Het |
| Epha1 |
A |
G |
6: 42,341,950 (GRCm39) |
Y367H |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,831,798 (GRCm39) |
S32G |
possibly damaging |
Het |
| Fam114a1 |
A |
T |
5: 65,166,323 (GRCm39) |
|
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,166,122 (GRCm39) |
N281K |
probably benign |
Het |
| Galnt12 |
G |
T |
4: 47,117,941 (GRCm39) |
R412L |
probably damaging |
Het |
| Gm5786 |
T |
A |
12: 59,128,382 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9845 |
T |
C |
3: 39,412,616 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw2 |
A |
G |
1: 53,964,858 (GRCm39) |
V656A |
probably benign |
Het |
| Hpse2 |
A |
T |
19: 43,282,692 (GRCm39) |
V187D |
probably damaging |
Het |
| Itsn2 |
T |
A |
12: 4,679,557 (GRCm39) |
M122K |
possibly damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,213 (GRCm39) |
S37P |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,037,807 (GRCm39) |
I1491T |
probably damaging |
Het |
| Krt36 |
T |
A |
11: 99,995,990 (GRCm39) |
K145* |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
| Mical2 |
C |
A |
7: 111,934,620 (GRCm39) |
H880N |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,528,823 (GRCm39) |
C666* |
probably null |
Het |
| Or10ag53 |
T |
A |
2: 87,082,295 (GRCm39) |
Y5N |
probably benign |
Het |
| Or10q1 |
C |
A |
19: 13,726,994 (GRCm39) |
H175N |
possibly damaging |
Het |
| Or13a17 |
A |
G |
7: 140,271,024 (GRCm39) |
T69A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,106 (GRCm39) |
L311I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,316 (GRCm39) |
S305G |
probably benign |
Het |
| Pdgfrl |
A |
G |
8: 41,430,094 (GRCm39) |
R154G |
probably benign |
Het |
| Pitpnb |
T |
C |
5: 111,478,699 (GRCm39) |
F7S |
possibly damaging |
Het |
| Ppm1n |
G |
A |
7: 19,013,097 (GRCm39) |
R285C |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,805,957 (GRCm39) |
I331N |
possibly damaging |
Het |
| Ptprb |
C |
T |
10: 116,203,426 (GRCm39) |
P2066L |
probably damaging |
Het |
| Ric8b |
T |
C |
10: 84,828,135 (GRCm39) |
|
probably benign |
Het |
| Setx |
A |
G |
2: 29,063,665 (GRCm39) |
I2320M |
probably damaging |
Het |
| Skil |
C |
A |
3: 31,165,787 (GRCm39) |
S368* |
probably null |
Het |
| Slc1a5 |
G |
T |
7: 16,519,644 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
C |
2: 126,661,811 (GRCm39) |
V1079G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,577,633 (GRCm39) |
F2L |
probably damaging |
Het |
| Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
| Zbtb17 |
A |
G |
4: 141,189,224 (GRCm39) |
Y48C |
probably damaging |
Het |
| Zfp605 |
T |
A |
5: 110,275,506 (GRCm39) |
I208N |
possibly damaging |
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 |
|
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