Incidental Mutation 'IGL00465:Nxn'
ID 332157
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) question?
Stock # IGL00465
Quality Score
Status
Chromosome 11
Chromosomal Location 76148052-76289967 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 76165481 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

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,793,102 (GRCm39) S2T probably damaging Het
Adamts13 T A 2: 26,863,567 (GRCm39) W7R probably benign Het
Anks6 T A 4: 47,046,054 (GRCm39) D279V probably damaging Het
C4bp A T 1: 130,566,871 (GRCm39) L335Q probably damaging Het
Cd109 A T 9: 78,568,216 (GRCm39) K299* probably null Het
Cd200r2 A T 16: 44,729,651 (GRCm39) H102L probably damaging Het
Col12a1 A G 9: 79,604,863 (GRCm39) Y662H probably damaging Het
Cyp2c37 T C 19: 39,990,441 (GRCm39) F380L probably benign Het
Deup1 A G 9: 15,472,666 (GRCm39) S549P probably damaging Het
Dysf G T 6: 84,176,830 (GRCm39) probably null Het
Etaa1 A T 11: 17,897,825 (GRCm39) C166* probably null Het
Fam227b T C 2: 125,986,245 (GRCm39) probably null Het
Gucy1b2 T G 14: 62,640,649 (GRCm39) Q752P probably benign Het
Hal T C 10: 93,325,931 (GRCm39) probably null Het
Hao1 C A 2: 134,396,190 (GRCm39) K21N probably damaging Het
Itga4 T C 2: 79,122,394 (GRCm39) F536L probably benign Het
Lmod3 A T 6: 97,224,822 (GRCm39) I333N probably damaging Het
Mgme1 T A 2: 144,121,436 (GRCm39) D297E probably damaging Het
Myh2 G T 11: 67,069,659 (GRCm39) probably benign Het
Myo7a A G 7: 97,751,833 (GRCm39) M70T probably damaging Het
Nav3 T C 10: 109,688,607 (GRCm39) T557A probably damaging Het
Nif3l1 C A 1: 58,494,845 (GRCm39) H271Q possibly damaging Het
Nostrin A G 2: 69,015,898 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,185 (GRCm39) D551V probably damaging Het
Pde4d A G 13: 110,073,221 (GRCm39) D339G possibly damaging Het
Pkp4 T A 2: 59,169,099 (GRCm39) S408T probably damaging Het
Pxmp2 T C 5: 110,431,582 (GRCm39) T54A probably benign Het
Rif1 T A 2: 52,011,019 (GRCm39) V2362E probably damaging Het
Rps6kl1 A G 12: 85,186,203 (GRCm39) S276P probably benign Het
Scaf4 C A 16: 90,044,169 (GRCm39) M601I unknown Het
Scart2 A G 7: 139,874,755 (GRCm39) Y411C probably damaging Het
Setd7 T A 3: 51,457,729 (GRCm39) T33S probably benign Het
Shroom1 T A 11: 53,354,921 (GRCm39) D280E probably benign Het
Slc35f2 G T 9: 53,705,298 (GRCm39) probably null Het
Slitrk3 T A 3: 72,958,436 (GRCm39) N112I probably damaging Het
Spag1 A G 15: 36,183,967 (GRCm39) probably benign Het
Stx6 C T 1: 155,077,679 (GRCm39) probably benign Het
Sun1 A T 5: 139,220,440 (GRCm39) probably null Het
Tbl1xr1 G A 3: 22,246,432 (GRCm39) probably null Het
Tmc2 T C 2: 130,103,224 (GRCm39) S787P possibly damaging Het
Traf3ip3 C T 1: 192,877,128 (GRCm39) probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Trpm1 G T 7: 63,897,215 (GRCm39) M272I possibly damaging Het
Ttc21b T C 2: 66,073,119 (GRCm39) E189G probably benign Het
Tubd1 T C 11: 86,445,894 (GRCm39) probably benign Het
Vps13a T A 19: 16,729,539 (GRCm39) T167S probably damaging Het
Zbtb3 A G 19: 8,781,029 (GRCm39) D214G possibly damaging Het
Zfp658 A G 7: 43,216,780 (GRCm39) D50G probably benign Het
Zfp976 T A 7: 42,263,109 (GRCm39) I243L unknown Het
Other mutations in Nxn
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-08-05