Incidental Mutation 'R8534:Nlrx1'
| ID |
659164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrx1
|
| Ensembl Gene |
ENSMUSG00000032109 |
| Gene Name |
NLR family member X1 |
| Synonyms |
|
| MMRRC Submission |
068503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R8534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44164014-44179896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44174070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 377
(V377A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034621]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213803]
[ENSMUST00000217465]
|
| AlphaFold |
Q3TL44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034621
AA Change: V377A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: V377A
| 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: V377A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: V377A
| 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: V377A
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: V377A
| 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: ENSMUST00000213803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217465
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (57/57) |
| 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 |
|---|
| 4921504E06Rik |
A |
C |
2: 19,545,153 (GRCm39) |
L100R |
probably damaging |
Het |
| 6820408C15Rik |
A |
G |
2: 152,283,182 (GRCm39) |
D282G |
probably damaging |
Het |
| Abcb11 |
G |
T |
2: 69,154,190 (GRCm39) |
N125K |
possibly damaging |
Het |
| Acbd7 |
A |
T |
2: 3,341,750 (GRCm39) |
D71V |
probably damaging |
Het |
| Adgrb1 |
A |
T |
15: 74,415,357 (GRCm39) |
T646S |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,534,887 (GRCm39) |
Y5793H |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
| Ahrr |
A |
G |
13: 74,368,799 (GRCm39) |
S125P |
probably damaging |
Het |
| B020011L13Rik |
C |
A |
1: 117,729,034 (GRCm39) |
H180Q |
probably benign |
Het |
| Cbfa2t3 |
T |
C |
8: 123,365,653 (GRCm39) |
D219G |
probably damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,165,577 (GRCm39) |
S860P |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,484,671 (GRCm39) |
Q471L |
probably benign |
Het |
| Cyp2c54 |
A |
C |
19: 40,036,030 (GRCm39) |
D293E |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,023,805 (GRCm39) |
N962K |
probably benign |
Het |
| Dst |
C |
T |
1: 34,229,388 (GRCm39) |
T2002I |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,339,864 (GRCm39) |
N239K |
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,543,667 (GRCm39) |
F375L |
probably benign |
Het |
| G6pc2 |
T |
A |
2: 69,050,469 (GRCm39) |
N31K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm6569 |
G |
T |
15: 73,711,673 (GRCm39) |
|
probably benign |
Het |
| Insig1 |
C |
T |
5: 28,280,116 (GRCm39) |
S236L |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,622,979 (GRCm39) |
N882I |
probably benign |
Het |
| Kmt5a |
C |
A |
5: 124,598,635 (GRCm39) |
D309E |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,503,669 (GRCm39) |
T991N |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,528,353 (GRCm39) |
T79S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,134,335 (GRCm39) |
E330V |
probably benign |
Het |
| Npy5r |
C |
A |
8: 67,134,688 (GRCm39) |
G35V |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,432 (GRCm39) |
I219N |
probably damaging |
Het |
| Or7g33 |
C |
T |
9: 19,448,605 (GRCm39) |
G207D |
possibly damaging |
Het |
| Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
| Pcf11 |
A |
G |
7: 92,302,432 (GRCm39) |
V1226A |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,351,659 (GRCm39) |
T949M |
probably benign |
Het |
| Phc1 |
G |
A |
6: 122,315,539 (GRCm39) |
|
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,083 (GRCm39) |
I55V |
possibly damaging |
Het |
| Pik3r2 |
A |
T |
8: 71,227,312 (GRCm39) |
S104T |
probably benign |
Het |
| Pip |
T |
C |
6: 41,828,421 (GRCm39) |
V85A |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,860,445 (GRCm39) |
V86A |
probably benign |
Het |
| Potefam1 |
G |
A |
2: 111,058,380 (GRCm39) |
P138S |
possibly damaging |
Het |
| Rab44 |
A |
G |
17: 29,363,547 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
A |
G |
2: 143,830,095 (GRCm39) |
S691P |
probably damaging |
Het |
| Ruvbl2 |
A |
T |
7: 45,079,118 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,826,542 (GRCm39) |
D1357G |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,312 (GRCm39) |
I476N |
probably damaging |
Het |
| Slc1a1 |
C |
T |
19: 28,882,746 (GRCm39) |
P337S |
probably damaging |
Het |
| Slc35b3 |
T |
A |
13: 39,128,566 (GRCm39) |
T174S |
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,283,581 (GRCm39) |
I467F |
probably damaging |
Het |
| Slc50a1 |
G |
A |
3: 89,177,710 (GRCm39) |
|
probably null |
Het |
| Spink14 |
G |
A |
18: 44,164,079 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
T |
A |
5: 77,207,325 (GRCm39) |
I361N |
probably damaging |
Het |
| Tmem59 |
T |
C |
4: 107,043,082 (GRCm39) |
|
probably null |
Het |
| Tnr |
G |
A |
1: 159,746,585 (GRCm39) |
E1235K |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,869,459 (GRCm39) |
R2015S |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,565,370 (GRCm39) |
E132G |
probably damaging |
Het |
| Vps54 |
A |
G |
11: 21,227,706 (GRCm39) |
N93S |
probably benign |
Het |
| Wdr17 |
T |
G |
8: 55,101,265 (GRCm39) |
I994L |
probably benign |
Het |
| Zfat |
G |
T |
15: 68,037,696 (GRCm39) |
H926Q |
probably damaging |
Het |
| Zfp2 |
C |
T |
11: 50,791,627 (GRCm39) |
E139K |
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 |
|
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 |
|
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'- GGCTTCTCTGATACCAACCTGC -3'
Sequencing Primer
(F):5'- TTTCGGGATGACACGCCCTC -3'
(R):5'- TTCTCTGATACCAACCTGCAGAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation