Incidental Mutation 'R4956:Nlrx1'
| ID |
381583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrx1
|
| Ensembl Gene |
ENSMUSG00000032109 |
| Gene Name |
NLR family member X1 |
| Synonyms |
|
| MMRRC Submission |
042553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4956 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44164014-44179896 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 44173909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 431
(K431*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034621]
[ENSMUST00000168499]
[ENSMUST00000169651]
[ENSMUST00000213803]
[ENSMUST00000217465]
|
| AlphaFold |
Q3TL44 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034621
AA Change: K431*
|
| SMART Domains |
Protein: ENSMUSP00000034621
Gene: ENSMUSG00000032109
AA Change: K431*
| 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 null
Transcript: ENSMUST00000168499
AA Change: K431*
|
| SMART Domains |
Protein: ENSMUSP00000127531
Gene: ENSMUSG00000032109
AA Change: K431*
| 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 null
Transcript: ENSMUST00000169651
AA Change: K431*
|
| SMART Domains |
Protein: ENSMUSP00000126555
Gene: ENSMUSG00000032109
AA Change: K431*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
96% (70/73) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
G |
16: 4,672,816 (GRCm39) |
K866E |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,931,879 (GRCm39) |
M49V |
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,643 (GRCm39) |
F583L |
probably benign |
Het |
| Atxn7l3b |
A |
G |
10: 112,764,501 (GRCm39) |
C43R |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,833,904 (GRCm39) |
V617A |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,108,958 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,614,316 (GRCm39) |
F193Y |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,420,221 (GRCm39) |
S141G |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,851,045 (GRCm39) |
F7Y |
probably damaging |
Het |
| Cpn2 |
T |
A |
16: 30,079,233 (GRCm39) |
Q156L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,216,354 (GRCm39) |
D416E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Eif2s3y |
A |
G |
Y: 1,023,407 (GRCm39) |
T430A |
possibly damaging |
Het |
| Enah |
G |
A |
1: 181,745,854 (GRCm39) |
T401I |
probably damaging |
Het |
| Esp38 |
T |
G |
17: 40,266,053 (GRCm39) |
I54R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,086,028 (GRCm39) |
R152W |
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,758,383 (GRCm39) |
|
probably benign |
Het |
| Fzd9 |
G |
A |
5: 135,278,796 (GRCm39) |
A363V |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,869,987 (GRCm39) |
I451N |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,388,948 (GRCm39) |
T172A |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,742,885 (GRCm39) |
T1695M |
probably damaging |
Het |
| Ipo13 |
G |
A |
4: 117,758,768 (GRCm39) |
A699V |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,331,960 (GRCm39) |
|
probably null |
Het |
| Klra17 |
A |
G |
6: 129,850,279 (GRCm39) |
L57P |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,339,530 (GRCm39) |
D280E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,524,675 (GRCm39) |
F662L |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,231,431 (GRCm39) |
H792L |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,085,575 (GRCm39) |
N1301S |
probably benign |
Het |
| Obp2b |
A |
G |
2: 25,627,087 (GRCm39) |
T7A |
probably damaging |
Het |
| Odc1 |
T |
C |
12: 17,597,958 (GRCm39) |
I95T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 89,833,187 (GRCm39) |
V146M |
probably benign |
Het |
| Or5b97 |
C |
T |
19: 12,878,963 (GRCm39) |
M60I |
probably damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,741,993 (GRCm39) |
I290T |
possibly damaging |
Het |
| Or6c1 |
A |
T |
10: 129,517,968 (GRCm39) |
F213L |
probably benign |
Het |
| Pcif1 |
A |
T |
2: 164,731,610 (GRCm39) |
Q521L |
probably damaging |
Het |
| Plekhg2 |
A |
C |
7: 28,067,780 (GRCm39) |
L223R |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,018,772 (GRCm39) |
N270D |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,636 (GRCm39) |
L417* |
probably null |
Het |
| Psmd6 |
C |
T |
14: 14,116,166 (GRCm38) |
V141I |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,121 (GRCm39) |
Y111* |
probably null |
Het |
| Rell2 |
G |
A |
18: 38,090,758 (GRCm39) |
R145H |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,745,426 (GRCm39) |
K614R |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,878,275 (GRCm39) |
I1001V |
probably benign |
Het |
| Shbg |
C |
T |
11: 69,508,045 (GRCm39) |
E107K |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,244,247 (GRCm39) |
P345L |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,857,681 (GRCm39) |
E391D |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,077,520 (GRCm39) |
D200G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,700,601 (GRCm39) |
T144A |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vgll3 |
T |
C |
16: 65,624,820 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r71 |
C |
T |
7: 85,268,436 (GRCm39) |
T213I |
probably benign |
Het |
| Wtap |
T |
C |
17: 13,186,423 (GRCm39) |
T375A |
probably benign |
Het |
| Yipf2 |
T |
G |
9: 21,503,204 (GRCm39) |
T88P |
probably damaging |
Het |
| Zfp382 |
T |
A |
7: 29,830,979 (GRCm39) |
D89E |
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,524,209 (GRCm39) |
|
probably benign |
Het |
| Zpr1 |
C |
T |
9: 46,185,961 (GRCm39) |
T144I |
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 |
|
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'- TGAACACGAAGGTACCCAGG -3'
(R):5'- TCAAATGCTCTCCCGGAACC -3'
Sequencing Primer
(F):5'- GTGCCCTGGTTCCACACAC -3'
(R):5'- ACCAGATTGCCGCAGCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation