Incidental Mutation 'R2100:Nlrx1'
ID |
230444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrx1
|
Ensembl Gene |
ENSMUSG00000032109 |
Gene Name |
NLR family member X1 |
Synonyms |
|
MMRRC Submission |
040104-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
R2100 (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 G
at 44173905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 432
(L432P)
|
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: L432P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034621 Gene: ENSMUSG00000032109 AA Change: L432P
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: L432P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127531 Gene: ENSMUSG00000032109 AA Change: L432P
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: L432P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126555 Gene: ENSMUSG00000032109 AA Change: L432P
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: 97.4%
- 20x: 95.4%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,627,183 (GRCm39) |
R1295W |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,828,608 (GRCm39) |
I1430N |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,763,202 (GRCm39) |
T577A |
probably damaging |
Het |
Arl5b |
G |
A |
2: 15,078,006 (GRCm39) |
M101I |
probably benign |
Het |
C1qbp |
T |
A |
11: 70,868,928 (GRCm39) |
N278I |
probably benign |
Het |
Cdh1 |
A |
T |
8: 107,386,300 (GRCm39) |
T408S |
possibly damaging |
Het |
Cfap54 |
T |
A |
10: 92,837,799 (GRCm39) |
I1034F |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
Chil4 |
T |
C |
3: 106,121,663 (GRCm39) |
K62R |
probably benign |
Het |
Crebl2 |
A |
G |
6: 134,828,166 (GRCm39) |
T113A |
probably benign |
Het |
Cyp2c69 |
C |
A |
19: 39,875,130 (GRCm39) |
V8L |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,869,742 (GRCm39) |
R447G |
probably damaging |
Het |
Efcab6 |
A |
T |
15: 83,777,168 (GRCm39) |
|
probably null |
Het |
Emilin1 |
T |
G |
5: 31,075,241 (GRCm39) |
V494G |
probably benign |
Het |
Enoph1 |
A |
G |
5: 100,211,645 (GRCm39) |
I181V |
probably null |
Het |
F3 |
T |
C |
3: 121,526,082 (GRCm39) |
V215A |
possibly damaging |
Het |
Fads2b |
T |
C |
2: 85,330,593 (GRCm39) |
N238S |
probably damaging |
Het |
Fat3 |
G |
T |
9: 16,288,726 (GRCm39) |
H266N |
possibly damaging |
Het |
Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
Garnl3 |
T |
C |
2: 32,936,657 (GRCm39) |
T171A |
probably benign |
Het |
Hspa4l |
T |
C |
3: 40,727,090 (GRCm39) |
V476A |
possibly damaging |
Het |
Impg2 |
A |
G |
16: 56,051,748 (GRCm39) |
|
probably null |
Het |
Kctd6 |
T |
C |
14: 8,222,239 (GRCm38) |
L27P |
possibly damaging |
Het |
Kmt2d |
G |
T |
15: 98,744,361 (GRCm39) |
|
probably benign |
Het |
Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
Lrig2 |
A |
G |
3: 104,418,946 (GRCm39) |
L21P |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,291,699 (GRCm39) |
Q3284* |
probably null |
Het |
Mnt |
A |
G |
11: 74,722,177 (GRCm39) |
E8G |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,344,430 (GRCm39) |
|
probably null |
Het |
Nid2 |
C |
T |
14: 19,828,946 (GRCm39) |
Q331* |
probably null |
Het |
Nop2 |
T |
A |
6: 125,117,785 (GRCm39) |
D445E |
probably damaging |
Het |
Nup62 |
T |
C |
7: 44,478,921 (GRCm39) |
|
probably benign |
Het |
Oas2 |
A |
G |
5: 120,883,740 (GRCm39) |
|
probably null |
Het |
Or5b121 |
A |
G |
19: 13,507,798 (GRCm39) |
I298V |
probably benign |
Het |
Or5p1 |
A |
T |
7: 107,916,761 (GRCm39) |
Y220F |
probably benign |
Het |
Or5w10 |
T |
A |
2: 87,375,169 (GRCm39) |
T240S |
probably damaging |
Het |
Or8k40 |
A |
T |
2: 86,584,905 (GRCm39) |
M59K |
possibly damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,600 (GRCm39) |
M118T |
possibly damaging |
Het |
P3h3 |
T |
A |
6: 124,822,005 (GRCm39) |
T623S |
probably damaging |
Het |
Pkp3 |
T |
C |
7: 140,663,205 (GRCm39) |
V350A |
probably damaging |
Het |
Plekha3 |
T |
A |
2: 76,523,007 (GRCm39) |
I225N |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,358,128 (GRCm39) |
K4292* |
probably null |
Het |
Rtkn |
T |
C |
6: 83,126,541 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Snx10 |
T |
C |
6: 51,565,395 (GRCm39) |
Y171H |
probably damaging |
Het |
Stx12 |
A |
T |
4: 132,587,913 (GRCm39) |
I173N |
possibly damaging |
Het |
Thrb |
T |
A |
14: 18,030,393 (GRCm38) |
M379K |
possibly damaging |
Het |
Tmem132e |
T |
A |
11: 82,335,357 (GRCm39) |
V813E |
probably damaging |
Het |
Tnfsf12 |
T |
C |
11: 69,578,175 (GRCm39) |
E134G |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpbgl |
T |
A |
7: 99,275,651 (GRCm39) |
I69F |
possibly damaging |
Het |
Ythdc1 |
T |
A |
5: 86,964,544 (GRCm39) |
S130T |
possibly damaging |
Het |
Zbp1 |
A |
G |
2: 173,051,037 (GRCm39) |
S278P |
probably damaging |
Het |
Zfp30 |
A |
G |
7: 29,492,951 (GRCm39) |
T483A |
probably benign |
Het |
Zfp322a |
G |
A |
13: 23,541,460 (GRCm39) |
S94L |
possibly damaging |
Het |
Zfp646 |
T |
G |
7: 127,481,359 (GRCm39) |
Y1179D |
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 |
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'- GTGAACACGAAGGTACCCAG -3'
(R):5'- TTCAAATGCTCTCCCGGAACC -3'
Sequencing Primer
(F):5'- AGGTGCCCTGGTTCCACAC -3'
(R):5'- ACCAGATTGCCGCAGCC -3'
|
Posted On |
2014-09-18 |