Incidental Mutation 'IGL01780:Nxn'
| ID |
154176 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nxn
|
| Ensembl Gene |
ENSMUSG00000020844 |
| Gene Name |
nucleoredoxin |
| Synonyms |
l11Jus13 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76148052-76289967 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 76165480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021204]
|
| AlphaFold |
P97346 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021204
|
| SMART Domains |
Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
| BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
| Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
| Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
| Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,355 (GRCm39) |
T118A |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
| Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
| Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,952,327 (GRCm39) |
S468R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
| Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
| Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
| Rpusd4 |
G |
A |
9: 35,179,720 (GRCm39) |
R71Q |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
| Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation