Incidental Mutation 'IGL02198:Tsnax'
ID 284129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsnax
Ensembl Gene ENSMUSG00000056820
Gene Name translin-associated factor X
Synonyms Trax
Accession Numbers
Essential gene? Possibly essential (E-score: 0.721) question?
Stock # IGL02198
Quality Score
Status
Chromosome 8
Chromosomal Location 125739780-125760947 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 125759451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 237 (Y237*)
Ref Sequence ENSEMBL: ENSMUSP00000075290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075896] [ENSMUST00000212603]
AlphaFold Q9QZE7
Predicted Effect probably null
Transcript: ENSMUST00000075896
AA Change: Y237*
SMART Domains Protein: ENSMUSP00000075290
Gene: ENSMUSG00000056820
AA Change: Y237*

DomainStartEndE-ValueType
Pfam:Translin 51 264 4.2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212603
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 protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A G 2: 131,388,412 (GRCm39) I381T probably damaging Het
Armt1 T A 10: 4,404,064 (GRCm39) F383Y possibly damaging Het
Cdca2 A G 14: 67,932,445 (GRCm39) V486A probably benign Het
Cep78 A G 19: 15,933,733 (GRCm39) L615S probably damaging Het
Clec2h C A 6: 128,650,979 (GRCm39) C86* probably null Het
Cntnap5a C T 1: 116,508,262 (GRCm39) T1258I probably benign Het
Dhrs7c T A 11: 67,706,628 (GRCm39) M262K possibly damaging Het
Dmpk C A 7: 18,822,117 (GRCm39) F332L probably damaging Het
Dnaaf4 G A 9: 72,876,348 (GRCm39) V308I probably benign Het
Fap A G 2: 62,385,142 (GRCm39) F73L probably benign Het
Igsf10 A T 3: 59,233,399 (GRCm39) I1778N possibly damaging Het
Il6ra T C 3: 89,797,655 (GRCm39) T71A probably benign Het
Itpr2 C A 6: 146,224,725 (GRCm39) A1389S probably damaging Het
Mob3b T C 4: 35,083,983 (GRCm39) N69D probably damaging Het
Nr1h3 A G 2: 91,023,070 (GRCm39) W21R probably damaging Het
Or4f56 A T 2: 111,703,593 (GRCm39) N202K probably damaging Het
Ovca2 A G 11: 75,069,596 (GRCm39) V9A possibly damaging Het
Ovch2 T A 7: 107,394,041 (GRCm39) K137N probably damaging Het
Pabpc1l A G 2: 163,869,536 (GRCm39) N112S probably damaging Het
Plekho1 T A 3: 95,899,496 (GRCm39) N99I probably damaging Het
Recql5 A C 11: 115,785,499 (GRCm39) S666A probably benign Het
Scn3a G T 2: 65,338,833 (GRCm39) H615Q probably benign Het
Sel1l3 A G 5: 53,297,141 (GRCm39) probably benign Het
Slc38a2 A T 15: 96,590,258 (GRCm39) S328T probably damaging Het
Taok1 T C 11: 77,466,503 (GRCm39) probably benign Het
Ttn T A 2: 76,544,974 (GRCm39) K24382N probably damaging Het
Ugt1a9 T A 1: 87,999,165 (GRCm39) V205E possibly damaging Het
Unc80 C A 1: 66,569,145 (GRCm39) D933E possibly damaging Het
Vnn1 A T 10: 23,779,323 (GRCm39) T411S probably benign Het
Wdr27 C A 17: 15,128,860 (GRCm39) G531V possibly damaging Het
Zfp760 G T 17: 21,941,193 (GRCm39) V123L probably benign Het
Other mutations in Tsnax
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2161:Tsnax UTSW 8 125,742,428 (GRCm39) missense probably damaging 0.99
R4271:Tsnax UTSW 8 125,759,468 (GRCm39) missense probably damaging 1.00
R4700:Tsnax UTSW 8 125,755,533 (GRCm39) missense probably benign 0.22
R5319:Tsnax UTSW 8 125,742,458 (GRCm39) missense probably damaging 1.00
R5472:Tsnax UTSW 8 125,742,501 (GRCm39) missense probably benign 0.00
R5943:Tsnax UTSW 8 125,751,278 (GRCm39) nonsense probably null
Posted On 2015-04-16