Incidental Mutation 'R2050:Nlrx1'
| ID |
226344 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrx1
|
| Ensembl Gene |
ENSMUSG00000032109 |
| Gene Name |
NLR family member X1 |
| Synonyms |
|
| MMRRC Submission |
040057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R2050 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44164014-44179896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44174077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 375
(W375R)
|
| 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: W375R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: W375R
| 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 damaging
Transcript: ENSMUST00000168499
AA Change: W375R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: W375R
| 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 damaging
Transcript: ENSMUST00000169651
AA Change: W375R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: W375R
| 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 |
noncoding transcript
Transcript: ENSMUST00000215389
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217465
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
G |
T |
10: 126,916,130 (GRCm39) |
E214* |
probably null |
Het |
| Angpt2 |
G |
T |
8: 18,755,673 (GRCm39) |
P265T |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,143,443 (GRCm39) |
|
probably null |
Het |
| Arpc1b |
C |
T |
5: 145,062,729 (GRCm39) |
P250S |
probably damaging |
Het |
| Atxn10 |
T |
G |
15: 85,249,513 (GRCm39) |
V115G |
probably benign |
Het |
| Bace2 |
T |
A |
16: 97,213,336 (GRCm39) |
C100S |
probably damaging |
Het |
| Bpifb9b |
T |
C |
2: 154,151,524 (GRCm39) |
S82P |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,300,300 (GRCm39) |
S2157P |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,359,598 (GRCm39) |
I104L |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,402 (GRCm39) |
I44T |
possibly damaging |
Het |
| Cdh6 |
T |
A |
15: 13,057,587 (GRCm39) |
M245L |
probably benign |
Het |
| Celsr1 |
A |
C |
15: 85,914,748 (GRCm39) |
V1075G |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,987,393 (GRCm39) |
F1065L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
T |
C |
8: 72,070,330 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
A |
T |
4: 56,835,350 (GRCm39) |
V309D |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,868,527 (GRCm39) |
E659D |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,464,696 (GRCm39) |
Y516H |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,580,127 (GRCm39) |
L3099P |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,520 (GRCm39) |
E1271G |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,530,444 (GRCm39) |
H188R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,148,245 (GRCm39) |
D344G |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,225,448 (GRCm39) |
M119T |
probably damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,992 (GRCm39) |
I368V |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,870 (GRCm39) |
N249Y |
possibly damaging |
Het |
| Igsf8 |
T |
A |
1: 172,146,432 (GRCm39) |
Y36N |
probably damaging |
Het |
| Lrp12 |
G |
A |
15: 39,735,985 (GRCm39) |
S649L |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,453,473 (GRCm39) |
S788P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,887,917 (GRCm39) |
D1164G |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,488,921 (GRCm39) |
|
probably null |
Het |
| Myo5a |
G |
A |
9: 75,054,156 (GRCm39) |
E355K |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,743,194 (GRCm39) |
V85E |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,332,123 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
A |
G |
7: 116,016,686 (GRCm39) |
|
probably null |
Het |
| Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
| Plk4 |
T |
A |
3: 40,764,815 (GRCm39) |
M603K |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,748 (GRCm39) |
V646E |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,353,349 (GRCm39) |
S510P |
probably benign |
Het |
| Slc9a1 |
A |
G |
4: 133,143,645 (GRCm39) |
H377R |
probably benign |
Het |
| Snrnp70 |
A |
C |
7: 45,036,724 (GRCm39) |
Y61* |
probably null |
Het |
| Spatc1l |
T |
C |
10: 76,399,892 (GRCm39) |
L138P |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,140,825 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
T |
A |
2: 29,892,250 (GRCm39) |
S1055T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,083 (GRCm39) |
M209L |
probably damaging |
Het |
| Tdrd12 |
C |
T |
7: 35,228,672 (GRCm39) |
V17I |
probably damaging |
Het |
| Tmem129 |
C |
A |
5: 33,815,126 (GRCm39) |
A16S |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,164,381 (GRCm39) |
E584G |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,193,856 (GRCm39) |
H627N |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,852,031 (GRCm39) |
D820G |
possibly damaging |
Het |
| Trpt1 |
T |
A |
19: 6,975,452 (GRCm39) |
N98K |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,429,069 (GRCm39) |
F857I |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,475,021 (GRCm39) |
V669A |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,273,681 (GRCm39) |
I832V |
probably damaging |
Het |
| Zbtb20 |
T |
A |
16: 43,429,975 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
C |
4: 108,575,800 (GRCm39) |
M427R |
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,500 (GRCm39) |
F194I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGGTCTTTCGGGATGACAC -3'
(R):5'- GGCTTCTCTGATACCAACCTG -3'
Sequencing Primer
(F):5'- TTTCGGGATGACACGCCCTC -3'
(R):5'- TTCTCTGATACCAACCTGCAGAAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation