Incidental Mutation 'R4271:Tsnax'
ID 322173
Institutional Source Beutler Lab
Gene Symbol Tsnax
Ensembl Gene ENSMUSG00000056820
Gene Name translin-associated factor X
Synonyms Trax
MMRRC Submission 041076-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.721) question?
Stock # R4271 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 125739780-125760947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125759468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 243 (L243P)
Ref Sequence ENSEMBL: ENSMUSP00000075290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075896] [ENSMUST00000212603]
AlphaFold Q9QZE7
Predicted Effect probably damaging
Transcript: ENSMUST00000075896
AA Change: L243P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075290
Gene: ENSMUSG00000056820
AA Change: L243P

DomainStartEndE-ValueType
Pfam:Translin 51 264 4.2e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212603
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A G 2: 103,856,549 (GRCm39) probably benign Het
Acp6 T C 3: 97,073,934 (GRCm39) probably null Het
Actr6 T A 10: 89,553,101 (GRCm39) R252S probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Ash1l T A 3: 88,889,347 (GRCm39) C409S probably benign Het
Aspg T C 12: 112,087,629 (GRCm39) S327P probably damaging Het
B430203G13Rik CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 12: 17,974,358 (GRCm39) noncoding transcript Het
C1galt1 T C 6: 7,866,607 (GRCm39) F151S probably damaging Het
C1qtnf6 G A 15: 78,409,466 (GRCm39) T127I probably benign Het
Ccdc88c G T 12: 100,913,478 (GRCm39) Q516K probably damaging Het
Cdh11 T A 8: 103,391,258 (GRCm39) D326V possibly damaging Het
Cecr2 C T 6: 120,739,436 (GRCm39) H1360Y probably damaging Het
Cfap70 T C 14: 20,470,793 (GRCm39) E484G probably benign Het
Chml G A 1: 175,515,360 (GRCm39) T187M probably benign Het
Chpt1 C T 10: 88,317,214 (GRCm39) probably benign Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cspg4b G T 13: 113,478,904 (GRCm39) V1483L possibly damaging Het
Cyfip1 A T 7: 55,528,849 (GRCm39) M244L probably benign Het
Dock1 T C 7: 134,335,783 (GRCm39) I59T probably damaging Het
Duox1 T C 2: 122,154,856 (GRCm39) F414L probably damaging Het
Gm1110 A T 9: 26,806,944 (GRCm39) probably null Het
Gsap T C 5: 21,431,348 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,510 (GRCm39) Y111C probably damaging Het
Hectd4 AGCGGCGGCGGCGGCGGCGGCGG AGCGGCGGCGGCGGCGGCGG 5: 121,358,567 (GRCm39) probably benign Het
Kif12 T C 4: 63,088,983 (GRCm39) Q146R probably benign Het
Kif26a C T 12: 112,139,848 (GRCm39) S460F probably damaging Het
Klhl15 AG A X: 93,296,718 (GRCm39) probably null Het
Lims1 T C 10: 58,246,026 (GRCm39) probably null Het
Nbr1 T C 11: 101,458,048 (GRCm39) Y276H possibly damaging Het
Nfe2l3 A G 6: 51,433,614 (GRCm39) D242G probably damaging Het
Oacyl T A 18: 65,871,038 (GRCm39) L340Q probably damaging Het
Or4n4b A T 14: 50,535,908 (GRCm39) I286N probably damaging Het
Or5p80 T A 7: 108,229,560 (GRCm39) Y120* probably null Het
Osbpl5 G T 7: 143,249,339 (GRCm39) Y543* probably null Het
Polr1a G A 6: 71,930,006 (GRCm39) E898K probably benign Het
Pramel51 A T 12: 88,145,053 (GRCm39) I91K probably damaging Het
Rad54l2 G A 9: 106,570,825 (GRCm39) A1165V probably benign Het
Rimbp2 T G 5: 128,896,841 (GRCm39) N23T probably benign Het
Scp2 T C 4: 107,942,408 (GRCm39) D306G probably damaging Het
Slco4a1 A G 2: 180,116,003 (GRCm39) D713G possibly damaging Het
Smarca2 T A 19: 26,698,349 (GRCm39) probably null Het
Spem2 T C 11: 69,708,251 (GRCm39) Y238C probably damaging Het
Srpk2 T A 5: 23,753,513 (GRCm39) H80L possibly damaging Het
Tmem161a T C 8: 70,634,162 (GRCm39) L365P probably damaging Het
Ttn A G 2: 76,731,979 (GRCm39) probably benign Het
V1rd19 A G 7: 23,702,839 (GRCm39) T102A probably benign Het
Vmn2r94 T C 17: 18,463,940 (GRCm39) I783M probably damaging Het
Zeb1 C A 18: 5,758,985 (GRCm39) Q148K probably damaging Het
Other mutations in Tsnax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02198:Tsnax APN 8 125,759,451 (GRCm39) nonsense probably null
R2161:Tsnax UTSW 8 125,742,428 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- CATGGAGACTGAAGCTCACC -3'
(R):5'- AGAACAGTCTCACCAACTGG -3'

Sequencing Primer
(F):5'- AGACTGAAGCTCACCCCTGTTG -3'
(R):5'- TCGCCCAGGAGCTCCTTAG -3'
Posted On 2015-06-20