Incidental Mutation 'R7937:Nlrx1'
| ID |
648812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrx1
|
| Ensembl Gene |
ENSMUSG00000032109 |
| Gene Name |
NLR family member X1 |
| Synonyms |
|
| MMRRC Submission |
045983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R7937 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44164014-44179896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44176086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 48
(A48D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034621]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213803]
[ENSMUST00000217465]
|
| AlphaFold |
Q3TL44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034621
AA Change: A48D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: A48D
| 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: A48D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: A48D
| 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: A48D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: A48D
| 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: ENSMUST00000213803
AA Change: A48D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217465
AA Change: A48D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
GTTGATCCATACA |
G |
2: 69,154,217 (GRCm39) |
|
probably benign |
Het |
| Ano6 |
C |
A |
15: 95,870,470 (GRCm39) |
T875K |
probably damaging |
Het |
| Armc8 |
G |
A |
9: 99,418,272 (GRCm39) |
T94I |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,977,624 (GRCm39) |
R2685* |
probably null |
Het |
| Bri3bp |
A |
T |
5: 125,531,395 (GRCm39) |
N114Y |
probably damaging |
Het |
| Camkk2 |
G |
T |
5: 122,902,097 (GRCm39) |
Q71K |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,765,736 (GRCm39) |
F49S |
|
Het |
| Cdh10 |
A |
G |
15: 18,964,335 (GRCm39) |
T166A |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,464,963 (GRCm39) |
F633L |
probably benign |
Het |
| Clec2m |
A |
G |
6: 129,307,974 (GRCm39) |
W32R |
possibly damaging |
Het |
| Cntn5 |
G |
A |
9: 9,748,450 (GRCm39) |
T477I |
probably damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,202 (GRCm39) |
Y68N |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,408,511 (GRCm39) |
L53* |
probably null |
Het |
| Dnajc11 |
A |
G |
4: 152,034,909 (GRCm39) |
D44G |
probably damaging |
Het |
| Elovl3 |
T |
C |
19: 46,123,168 (GRCm39) |
F248S |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,517,123 (GRCm39) |
L422P |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fgd4 |
A |
G |
16: 16,287,637 (GRCm39) |
Y355H |
probably damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,820,823 (GRCm39) |
M237T |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,230,177 (GRCm39) |
K203N |
probably benign |
Het |
| Glis1 |
A |
G |
4: 107,484,723 (GRCm39) |
D594G |
possibly damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,679 (GRCm39) |
H493L |
probably benign |
Het |
| Gpatch3 |
G |
T |
4: 133,310,308 (GRCm39) |
V418L |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,766,670 (GRCm39) |
N376S |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,278,243 (GRCm39) |
Q3010R |
probably benign |
Het |
| Ice2 |
T |
A |
9: 69,318,067 (GRCm39) |
F223I |
possibly damaging |
Het |
| Marchf11 |
A |
G |
15: 26,409,323 (GRCm39) |
T341A |
probably damaging |
Het |
| Mllt10 |
A |
G |
2: 18,210,895 (GRCm39) |
K770E |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,838,128 (GRCm39) |
T453A |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,976,009 (GRCm39) |
T1359I |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,958,080 (GRCm39) |
K3E |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,163,571 (GRCm39) |
F913L |
probably benign |
Het |
| Noc3l |
C |
G |
19: 38,783,447 (GRCm39) |
G643A |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,774,875 (GRCm39) |
R309G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,180,344 (GRCm39) |
N170K |
probably benign |
Het |
| Pde6b |
G |
T |
5: 108,567,639 (GRCm39) |
|
probably null |
Het |
| Phactr1 |
A |
G |
13: 43,231,205 (GRCm39) |
I247V |
unknown |
Het |
| Pid1 |
G |
T |
1: 84,093,745 (GRCm39) |
Q48K |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,699,233 (GRCm39) |
N794S |
probably benign |
Het |
| Ppox |
G |
A |
1: 171,107,546 (GRCm39) |
S123L |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,013,772 (GRCm39) |
D778E |
probably benign |
Het |
| Rgs13 |
A |
G |
1: 144,016,600 (GRCm39) |
Y48H |
probably damaging |
Het |
| Rgs17 |
T |
A |
10: 5,783,078 (GRCm39) |
M190L |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,247,482 (GRCm39) |
P935L |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,601,253 (GRCm39) |
I435T |
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 23,996,648 (GRCm39) |
H51R |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,112,199 (GRCm39) |
L378P |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,973,226 (GRCm39) |
L155P |
probably damaging |
Het |
| St8sia4 |
T |
C |
1: 95,581,320 (GRCm39) |
T141A |
possibly damaging |
Het |
| Syt10 |
A |
T |
15: 89,666,820 (GRCm39) |
S510R |
probably damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,457,349 (GRCm39) |
F241L |
probably benign |
Het |
| Tnfrsf21 |
A |
T |
17: 43,348,816 (GRCm39) |
T143S |
probably benign |
Het |
| Trim72 |
A |
G |
7: 127,609,491 (GRCm39) |
N431S |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,746,615 (GRCm39) |
S1031P |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,858,799 (GRCm39) |
Y656C |
probably benign |
Het |
| Zfp28 |
T |
C |
7: 6,396,785 (GRCm39) |
C407R |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,821,866 (GRCm39) |
R399Q |
possibly damaging |
Het |
| Zfp949 |
T |
A |
9: 88,451,323 (GRCm39) |
C298S |
probably 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 |
|
|
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'- ATGGTCCTTGTGCACAGTG -3'
(R):5'- GTCAGTCTGAGTCTCAAGCAG -3'
Sequencing Primer
(F):5'- CACAGTGTGATGGATGCTCAG -3'
(R):5'- TCTGAGTCTCAAGCAGGCAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation