Incidental Mutation 'IGL01780:Nxn'
ID154176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxn
Ensembl Gene ENSMUSG00000020844
Gene Namenucleoredoxin
Synonymsl11Jus13
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01780
Quality Score
Status
Chromosome11
Chromosomal Location76257198-76399140 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 76274654 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021204]
Predicted Effect probably benign
Transcript: ENSMUST00000021204
SMART Domains Protein: ENSMUSP00000021204
Gene: ENSMUSG00000020844

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,210,125 N648D probably benign Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
BC024139 C A 15: 76,121,143 L506F probably benign Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Emb A G 13: 117,249,471 probably benign Het
Eml6 T C 11: 29,805,175 M867V probably benign Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gckr C A 5: 31,307,790 H368N possibly damaging Het
Gmds A T 13: 32,225,162 Y106* probably null Het
Homez T C 14: 54,857,898 T118A probably damaging Het
Kcnh7 G A 2: 62,837,163 T344I probably benign Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Krt13 A T 11: 100,119,713 L207Q probably damaging Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Lrp2 A C 2: 69,486,184 V2151G possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mrgpra6 T C 7: 47,188,749 T234A probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Olfr1132 T C 2: 87,635,080 I222M possibly damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Patl2 A C 2: 122,121,846 S468R probably damaging Het
Pcdhb1 T C 18: 37,266,522 S509P probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rasgrp1 A G 2: 117,284,878 L743P probably benign Het
Rpusd4 G A 9: 35,268,424 R71Q probably damaging Het
Rsf1 C T 7: 97,664,770 probably benign Het
Scaf11 T C 15: 96,420,844 T280A possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tenm2 A G 11: 36,046,941 M1635T probably benign Het
Uhrf1bp1 T C 17: 27,893,500 L1221P probably damaging Het
Vmn1r195 A G 13: 22,279,085 T242A probably benign Het
Zfp423 A G 8: 87,781,508 V736A probably damaging Het
Other mutations in Nxn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Nxn APN 11 76274655 splice site probably benign
IGL02350:Nxn APN 11 76274654 splice site probably benign
IGL02357:Nxn APN 11 76274654 splice site probably benign
IGL02423:Nxn APN 11 76274032 missense probably benign 0.13
R0098:Nxn UTSW 11 76278594 splice site probably benign
R0456:Nxn UTSW 11 76263137 nonsense probably null
R1127:Nxn UTSW 11 76274069 nonsense probably null
R1473:Nxn UTSW 11 76263187 missense possibly damaging 0.93
R1681:Nxn UTSW 11 76272464 missense probably benign 0.03
R1917:Nxn UTSW 11 76261672 splice site probably benign
R1918:Nxn UTSW 11 76261672 splice site probably benign
R2010:Nxn UTSW 11 76398801 missense probably damaging 0.99
R4501:Nxn UTSW 11 76274612 missense probably damaging 0.98
R4827:Nxn UTSW 11 76261592 missense probably benign 0.01
R5029:Nxn UTSW 11 76274530 nonsense probably null
R5078:Nxn UTSW 11 76261607 missense probably damaging 1.00
R6403:Nxn UTSW 11 76399020 missense probably benign 0.22
R7088:Nxn UTSW 11 76263148 missense not run
X0062:Nxn UTSW 11 76263152 missense possibly damaging 0.46
Posted On2014-02-04