Incidental Mutation 'R7900:Nxnl1'
ID 609944
Institutional Source Beutler Lab
Gene Symbol Nxnl1
Ensembl Gene ENSMUSG00000034829
Gene Name nucleoredoxin-like 1
Synonyms Txnl6, RdCVF, A930031O08Rik
MMRRC Submission 045952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R7900 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 72013199-72019245 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72019170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 18 (D18E)
Ref Sequence ENSEMBL: ENSMUSP00000039294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034267] [ENSMUST00000048243] [ENSMUST00000163659] [ENSMUST00000212111] [ENSMUST00000212889] [ENSMUST00000213100]
AlphaFold Q8VC33
Predicted Effect probably benign
Transcript: ENSMUST00000034267
SMART Domains Protein: ENSMUSP00000034267
Gene: ENSMUSG00000031808

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 58 73 N/A INTRINSIC
Pfam:AMP-binding 82 515 2.1e-71 PFAM
Pfam:AMP-binding_C 523 598 2.9e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000048243
AA Change: D18E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039294
Gene: ENSMUSG00000034829
AA Change: D18E

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 32 132 2.8e-24 PFAM
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163659
AA Change: D18E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127094
Gene: ENSMUSG00000034829
AA Change: D18E

DomainStartEndE-ValueType
Pfam:Thioredoxin_8 32 132 1.5e-22 PFAM
low complexity region 187 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212111
Predicted Effect probably benign
Transcript: ENSMUST00000212889
Predicted Effect probably benign
Transcript: ENSMUST00000213100
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a kncok-out allele exhibit reduced cone numbers, thin outer nuclear layer, impaired visibility and increased vulnerability to hyperoxia-induced damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamtsl5 A G 10: 80,177,735 (GRCm39) F309S probably damaging Het
Ankle1 C T 8: 71,860,061 (GRCm39) T213I probably damaging Het
C4b A G 17: 34,958,751 (GRCm39) S528P probably benign Het
Camk2a A G 18: 61,090,438 (GRCm39) Y222C probably damaging Het
Cnst A G 1: 179,450,453 (GRCm39) D639G probably damaging Het
Ctbp2 A C 7: 132,616,328 (GRCm39) S202R probably benign Het
Cwf19l2 G T 9: 3,460,107 (GRCm39) L798F probably damaging Het
Cyp11a1 T A 9: 57,923,667 (GRCm39) V124E possibly damaging Het
Ddx3y C T Y: 1,266,594 (GRCm39) probably null Het
Dlst G T 12: 85,177,292 (GRCm39) R346L probably benign Het
Dnah2 A G 11: 69,409,254 (GRCm39) S375P probably damaging Het
Dnm3 T A 1: 162,182,940 (GRCm39) Y125F probably benign Het
Dock9 C T 14: 121,783,491 (GRCm39) A2011T possibly damaging Het
Efr3a T A 15: 65,719,984 (GRCm39) probably null Het
Egln1 A T 8: 125,640,879 (GRCm39) I319N possibly damaging Het
Gata3 T A 2: 9,863,461 (GRCm39) N351I probably damaging Het
Gjd3 T C 11: 102,690,920 (GRCm39) N361S probably benign Het
Gpcpd1 T C 2: 132,376,659 (GRCm39) T546A probably damaging Het
Gpihbp1 T C 15: 75,469,791 (GRCm39) F169L probably benign Het
Gpnmb A T 6: 49,027,400 (GRCm39) I375L possibly damaging Het
Itpka A T 2: 119,580,994 (GRCm39) T381S probably benign Het
Lhx4 T C 1: 155,617,709 (GRCm39) probably benign Het
Lrguk T C 6: 34,106,129 (GRCm39) L718P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nr1d1 T A 11: 98,660,537 (GRCm39) T477S probably benign Het
Onecut2 G T 18: 64,474,658 (GRCm39) R403L probably damaging Het
Or51v14 T C 7: 103,260,900 (GRCm39) Y220C possibly damaging Het
Or5an1 T A 19: 12,260,705 (GRCm39) C98S probably damaging Het
Pla2r1 T C 2: 60,258,858 (GRCm39) T1177A possibly damaging Het
Prkd2 T C 7: 16,587,269 (GRCm39) V405A probably benign Het
Ranbp1 T C 16: 18,063,161 (GRCm39) T72A probably damaging Het
Retnla A C 16: 48,663,977 (GRCm39) R90S probably benign Het
Sec31b A T 19: 44,514,669 (GRCm39) I385N probably damaging Het
Slc6a19 C T 13: 73,848,583 (GRCm39) R57H probably damaging Het
Smurf1 T C 5: 144,836,183 (GRCm39) D110G probably damaging Het
Specc1 A G 11: 62,110,187 (GRCm39) Y975C probably damaging Het
Tas2r136 T A 6: 132,754,599 (GRCm39) N176I possibly damaging Het
Tecrl A C 5: 83,427,188 (GRCm39) V320G probably benign Het
Tmem245 A G 4: 56,924,973 (GRCm39) probably null Het
Tpd52l1 T A 10: 31,214,178 (GRCm39) probably null Het
Trbv2 A G 6: 41,024,908 (GRCm39) Y108C probably damaging Het
Trpm7 T C 2: 126,639,418 (GRCm39) M1689V probably benign Het
Usp24 A G 4: 106,266,597 (GRCm39) Y1855C probably damaging Het
Usp9y A T Y: 1,384,354 (GRCm39) S721R possibly damaging Het
Vwf G A 6: 125,605,439 (GRCm39) probably null Het
Washc4 T A 10: 83,409,637 (GRCm39) probably null Het
Yeats4 G A 10: 117,056,464 (GRCm39) H71Y possibly damaging Het
Zbtb38 A C 9: 96,570,989 (GRCm39) L32V probably damaging Het
Zfy1 T C Y: 725,519 (GRCm39) T749A possibly damaging Het
Other mutations in Nxnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:Nxnl1 UTSW 8 72,019,217 (GRCm39) missense probably damaging 0.96
R7028:Nxnl1 UTSW 8 72,015,437 (GRCm39) missense possibly damaging 0.94
R7108:Nxnl1 UTSW 8 72,019,198 (GRCm39) missense probably benign 0.00
R7397:Nxnl1 UTSW 8 72,019,105 (GRCm39) missense probably damaging 1.00
R8353:Nxnl1 UTSW 8 72,015,512 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAGGTCCTGTTGCTCCTC -3'
(R):5'- TCTGTAGAGGTCAGCAGGAG -3'

Sequencing Primer
(F):5'- GTCCTGGGACACATAGACCAG -3'
(R):5'- GAGGATCTAACCAGGCTAATCTG -3'
Posted On 2019-12-20