Incidental Mutation 'R5029:Nxn'
| ID |
391572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nxn
|
| Ensembl Gene |
ENSMUSG00000020844 |
| Gene Name |
nucleoredoxin |
| Synonyms |
l11Jus13 |
| MMRRC Submission |
042620-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76148052-76289967 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 76165356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 199
(Y199*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021204]
|
| AlphaFold |
P97346 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021204
AA Change: Y199*
|
| SMART Domains |
Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
AA Change: Y199*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (61/63) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,127 (GRCm39) |
M154K |
probably benign |
Het |
| Ank |
T |
C |
15: 27,590,439 (GRCm39) |
V341A |
probably benign |
Het |
| Bnip3 |
T |
A |
7: 138,499,848 (GRCm39) |
|
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,931 (GRCm39) |
K4E |
possibly damaging |
Het |
| Cbs |
T |
A |
17: 31,834,456 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,897 (GRCm39) |
H109R |
possibly damaging |
Het |
| Cdh4 |
T |
A |
2: 179,523,742 (GRCm39) |
V440D |
possibly damaging |
Het |
| Cnot4 |
T |
C |
6: 35,054,962 (GRCm39) |
N109S |
probably damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,114 (GRCm39) |
S695R |
probably benign |
Het |
| Defa21 |
A |
T |
8: 21,516,381 (GRCm39) |
E75V |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,093,630 (GRCm39) |
D274G |
probably null |
Het |
| Dstyk |
G |
T |
1: 132,377,062 (GRCm39) |
V223L |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,584,444 (GRCm39) |
S616T |
possibly damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,515,769 (GRCm39) |
I1619F |
probably benign |
Het |
| Gm4744 |
T |
A |
6: 40,926,341 (GRCm39) |
Y83F |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hpx |
T |
G |
7: 105,240,971 (GRCm39) |
Y434S |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,158,981 (GRCm39) |
D451G |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,879,417 (GRCm39) |
|
probably benign |
Het |
| Jph1 |
T |
A |
1: 17,161,615 (GRCm39) |
N349I |
possibly damaging |
Het |
| Klrg1 |
A |
G |
6: 122,259,694 (GRCm39) |
L26P |
probably benign |
Het |
| M1ap |
A |
C |
6: 82,980,813 (GRCm39) |
D233A |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,393,946 (GRCm39) |
S2762P |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,023,489 (GRCm39) |
Q1556L |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,972,123 (GRCm39) |
D1428G |
probably damaging |
Het |
| Ndc80 |
A |
C |
17: 71,815,760 (GRCm39) |
C342G |
probably benign |
Het |
| Or6c206 |
T |
A |
10: 129,097,707 (GRCm39) |
N292K |
probably benign |
Het |
| Or7c19 |
C |
T |
8: 85,957,835 (GRCm39) |
A237V |
probably benign |
Het |
| Or8j3b |
A |
G |
2: 86,205,234 (GRCm39) |
I174T |
probably damaging |
Het |
| Pacs1 |
A |
G |
19: 5,192,299 (GRCm39) |
F691L |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,899,864 (GRCm39) |
V232A |
probably benign |
Het |
| Pik3cb |
A |
T |
9: 98,936,113 (GRCm39) |
M773K |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,943,723 (GRCm39) |
Y1937H |
probably damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,693,304 (GRCm39) |
T603N |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,453,662 (GRCm39) |
Y119C |
probably damaging |
Het |
| Saraf |
G |
T |
8: 34,628,412 (GRCm39) |
R86L |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stpg3 |
T |
C |
2: 25,104,576 (GRCm39) |
N13S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,177,273 (GRCm39) |
D50E |
possibly damaging |
Het |
| Tlr1 |
T |
A |
5: 65,083,024 (GRCm39) |
N518Y |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,719,993 (GRCm39) |
|
probably null |
Het |
| Tomm70a |
T |
A |
16: 56,942,514 (GRCm39) |
L97Q |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,173 (GRCm39) |
V809E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,882,852 (GRCm39) |
I914V |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,097 (GRCm39) |
H291Q |
probably damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
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 |
|
R5078:Nxn
|
UTSW |
11 |
76,152,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGCAGCATGAGCATTTACTG -3'
(R):5'- TGTGCCTGAGCTCATAAGTTC -3'
Sequencing Primer
(F):5'- GGCAGCATGAGCATTTACTGTCATC -3'
(R):5'- ACAATTGTGCCTAGAGTTCTGGAGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation