Incidental Mutation 'R5078:Nxn'
ID |
386969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nxn
|
Ensembl Gene |
ENSMUSG00000020844 |
Gene Name |
nucleoredoxin |
Synonyms |
l11Jus13 |
MMRRC Submission |
042667-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
76148052-76289967 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76152433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 354
(K354E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021204]
|
AlphaFold |
P97346 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021204
AA Change: K354E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021204 Gene: ENSMUSG00000020844 AA Change: K354E
Domain | Start | End | E-Value | Type |
Pfam:Thioredoxin_8
|
30 |
145 |
5.4e-23 |
PFAM |
Pfam:AhpC-TSA
|
173 |
290 |
4.7e-10 |
PFAM |
Pfam:Thioredoxin_2
|
189 |
296 |
7.1e-11 |
PFAM |
Pfam:Thioredoxin_8
|
193 |
287 |
3.7e-32 |
PFAM |
Pfam:Thioredoxin_6
|
236 |
424 |
8.4e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.0883 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
T |
C |
16: 4,141,771 (GRCm39) |
S345G |
probably benign |
Het |
Adgrf2 |
A |
T |
17: 43,021,877 (GRCm39) |
F316I |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,736,002 (GRCm39) |
|
probably benign |
Het |
Auts2 |
T |
C |
5: 132,287,786 (GRCm39) |
K66E |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,709,382 (GRCm39) |
D1144G |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,557,312 (GRCm39) |
S1109P |
probably damaging |
Het |
Camkv |
T |
C |
9: 107,822,572 (GRCm39) |
V29A |
probably damaging |
Het |
Ccdc178 |
A |
T |
18: 22,200,685 (GRCm39) |
|
probably null |
Het |
Ccser1 |
G |
A |
6: 61,288,350 (GRCm39) |
R171H |
probably damaging |
Het |
Cdk19 |
A |
G |
10: 40,312,150 (GRCm39) |
Y133C |
probably damaging |
Het |
Cerkl |
T |
A |
2: 79,223,352 (GRCm39) |
D123V |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,946,616 (GRCm39) |
S121P |
possibly damaging |
Het |
Col4a2 |
T |
C |
8: 11,493,936 (GRCm39) |
V1459A |
probably benign |
Het |
Dlg1 |
T |
A |
16: 31,675,287 (GRCm39) |
Y704* |
probably null |
Het |
Dsg2 |
T |
C |
18: 20,729,140 (GRCm39) |
|
probably null |
Het |
Egln3 |
T |
C |
12: 54,228,453 (GRCm39) |
R218G |
probably damaging |
Het |
Gm11568 |
T |
C |
11: 99,749,181 (GRCm39) |
C129R |
unknown |
Het |
Gm13991 |
T |
C |
2: 116,358,355 (GRCm39) |
|
noncoding transcript |
Het |
Gmnc |
C |
A |
16: 26,784,332 (GRCm39) |
V58L |
probably benign |
Het |
Gpx5 |
A |
G |
13: 21,472,881 (GRCm39) |
F151S |
probably damaging |
Het |
Helz |
G |
A |
11: 107,546,922 (GRCm39) |
G1079R |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,752,969 (GRCm39) |
E1039G |
probably benign |
Het |
Kif18a |
T |
C |
2: 109,125,487 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
T |
C |
12: 5,143,530 (GRCm39) |
T500A |
possibly damaging |
Het |
Lrfn5 |
A |
C |
12: 61,890,660 (GRCm39) |
K650Q |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,331,874 (GRCm39) |
D1627G |
possibly damaging |
Het |
Or5d20-ps1 |
T |
A |
2: 87,931,879 (GRCm39) |
I151L |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,478,895 (GRCm39) |
T2118A |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,598,105 (GRCm39) |
F861L |
possibly damaging |
Het |
Piezo2 |
A |
G |
18: 63,157,607 (GRCm39) |
Y2368H |
probably damaging |
Het |
Pnp |
T |
A |
14: 51,188,963 (GRCm39) |
L252* |
probably null |
Het |
Prom2 |
T |
C |
2: 127,373,757 (GRCm39) |
Q641R |
probably benign |
Het |
Prpf31 |
T |
C |
7: 3,637,702 (GRCm39) |
S180P |
possibly damaging |
Het |
Prss27 |
C |
A |
17: 24,263,414 (GRCm39) |
Y142* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,201,082 (GRCm39) |
M265R |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ropn1 |
T |
A |
16: 34,487,161 (GRCm39) |
D32E |
probably damaging |
Het |
Rps23 |
T |
C |
13: 91,071,822 (GRCm39) |
F41L |
probably benign |
Het |
Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
Selenot |
C |
T |
3: 58,492,692 (GRCm39) |
R60W |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,546,921 (GRCm39) |
K342E |
probably damaging |
Het |
Tlx1 |
A |
T |
19: 45,144,460 (GRCm39) |
N61Y |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,679,122 (GRCm39) |
I701F |
probably damaging |
Het |
Zmynd12 |
A |
G |
4: 119,302,047 (GRCm39) |
K229E |
probably damaging |
Het |
|
Other mutations in Nxn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Nxn
|
APN |
11 |
76,165,481 (GRCm39) |
splice site |
probably benign |
|
IGL01780:Nxn
|
APN |
11 |
76,165,480 (GRCm39) |
splice site |
probably benign |
|
IGL02350:Nxn
|
APN |
11 |
76,165,480 (GRCm39) |
splice site |
probably benign |
|
IGL02357:Nxn
|
APN |
11 |
76,165,480 (GRCm39) |
splice site |
probably benign |
|
IGL02423:Nxn
|
APN |
11 |
76,164,858 (GRCm39) |
missense |
probably benign |
0.13 |
Charleston
|
UTSW |
11 |
76,153,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
Flapper
|
UTSW |
11 |
76,169,383 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Nxn
|
UTSW |
11 |
76,164,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
BB016:Nxn
|
UTSW |
11 |
76,164,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0098:Nxn
|
UTSW |
11 |
76,169,420 (GRCm39) |
splice site |
probably benign |
|
R0456:Nxn
|
UTSW |
11 |
76,153,963 (GRCm39) |
nonsense |
probably null |
|
R1127:Nxn
|
UTSW |
11 |
76,164,895 (GRCm39) |
nonsense |
probably null |
|
R1473:Nxn
|
UTSW |
11 |
76,154,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1681:Nxn
|
UTSW |
11 |
76,163,290 (GRCm39) |
missense |
probably benign |
0.03 |
R1917:Nxn
|
UTSW |
11 |
76,152,498 (GRCm39) |
splice site |
probably benign |
|
R1918:Nxn
|
UTSW |
11 |
76,152,498 (GRCm39) |
splice site |
probably benign |
|
R2010:Nxn
|
UTSW |
11 |
76,289,627 (GRCm39) |
missense |
probably damaging |
0.99 |
R4501:Nxn
|
UTSW |
11 |
76,165,438 (GRCm39) |
missense |
probably damaging |
0.98 |
R4827:Nxn
|
UTSW |
11 |
76,152,418 (GRCm39) |
missense |
probably benign |
0.01 |
R5029:Nxn
|
UTSW |
11 |
76,165,356 (GRCm39) |
nonsense |
probably null |
|
R6403:Nxn
|
UTSW |
11 |
76,289,846 (GRCm39) |
missense |
probably benign |
0.22 |
R7088:Nxn
|
UTSW |
11 |
76,153,974 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7478:Nxn
|
UTSW |
11 |
76,152,378 (GRCm39) |
missense |
probably damaging |
0.97 |
R7642:Nxn
|
UTSW |
11 |
76,163,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R7830:Nxn
|
UTSW |
11 |
76,164,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R7929:Nxn
|
UTSW |
11 |
76,164,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8397:Nxn
|
UTSW |
11 |
76,163,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R8478:Nxn
|
UTSW |
11 |
76,164,869 (GRCm39) |
missense |
probably damaging |
0.98 |
R9032:Nxn
|
UTSW |
11 |
76,169,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R9122:Nxn
|
UTSW |
11 |
76,169,317 (GRCm39) |
missense |
probably damaging |
0.98 |
R9173:Nxn
|
UTSW |
11 |
76,149,560 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9725:Nxn
|
UTSW |
11 |
76,169,362 (GRCm39) |
missense |
probably damaging |
0.98 |
X0062:Nxn
|
UTSW |
11 |
76,153,978 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTCTGATGACTAAGGGCACAC -3'
(R):5'- AGGGTTCGAACTGCTCACTG -3'
Sequencing Primer
(F):5'- TCTTACATCTGCGTGTGGC -3'
(R):5'- CTCACTGAGCTGTTTGTGTCTAG -3'
|
Posted On |
2016-06-06 |