Incidental Mutation 'R5472:Tsnax'
ID 433871
Institutional Source Beutler Lab
Gene Symbol Tsnax
Ensembl Gene ENSMUSG00000056820
Gene Name translin-associated factor X
Synonyms Trax
MMRRC Submission 043033-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.721) question?
Stock # R5472 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 125739780-125760947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125742501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 77 (I77V)
Ref Sequence ENSEMBL: ENSMUSP00000148470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075896] [ENSMUST00000212603]
AlphaFold Q9QZE7
Predicted Effect probably benign
Transcript: ENSMUST00000075896
AA Change: I77V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000075290
Gene: ENSMUSG00000056820
AA Change: I77V

DomainStartEndE-ValueType
Pfam:Translin 51 264 4.2e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212423
Predicted Effect probably benign
Transcript: ENSMUST00000212603
AA Change: I77V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.3%
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
Ajm1 T C 2: 25,469,714 (GRCm39) T66A probably benign Het
Akap11 T C 14: 78,750,869 (GRCm39) N506S probably benign Het
Brinp3 A T 1: 146,777,197 (GRCm39) H548L possibly damaging Het
Cacna1c A G 6: 118,615,407 (GRCm39) V1328A possibly damaging Het
Carmil1 C T 13: 24,339,454 (GRCm39) V47I probably damaging Het
Cdk2ap2 C A 19: 4,148,048 (GRCm39) T76K probably benign Het
Col16a1 T C 4: 129,986,564 (GRCm39) probably benign Het
Cspg4b A G 13: 113,455,703 (GRCm39) D583G probably benign Het
Cxcr4 C A 1: 128,517,362 (GRCm39) A100S probably damaging Het
Fancl G T 11: 26,419,677 (GRCm39) C305F probably damaging Het
Gcnt2 T C 13: 41,107,055 (GRCm39) V308A probably benign Het
Gm11733 A T 11: 117,375,322 (GRCm39) I24L unknown Het
Gm973 A G 1: 59,667,446 (GRCm39) probably null Het
Heatr5b A T 17: 79,109,089 (GRCm39) F1057I probably damaging Het
Ifi213 A T 1: 173,394,838 (GRCm39) probably null Het
Ighv1-20 A T 12: 114,687,471 (GRCm39) V91E probably damaging Het
Inhba A G 13: 16,201,371 (GRCm39) E311G probably damaging Het
Irx3 G T 8: 92,526,108 (GRCm39) probably null Het
Jag1 C A 2: 136,926,915 (GRCm39) C948F probably damaging Het
Kcna2 T C 3: 107,012,625 (GRCm39) I402T possibly damaging Het
Kcnh8 A T 17: 53,284,844 (GRCm39) Q938L possibly damaging Het
Lrsam1 ACC AC 2: 32,835,870 (GRCm39) probably null Het
Macf1 T C 4: 123,343,854 (GRCm39) T2123A probably benign Het
Mdfic2 A T 6: 98,215,237 (GRCm39) C129S probably damaging Het
Mdh1 A T 11: 21,509,786 (GRCm39) N196K probably benign Het
Msh6 G A 17: 88,291,989 (GRCm39) R248Q possibly damaging Het
Odf2l G T 3: 144,852,627 (GRCm39) R457L probably benign Het
Or6c69c A T 10: 129,910,898 (GRCm39) L206F probably damaging Het
Pphln1 T C 15: 93,386,856 (GRCm39) V318A possibly damaging Het
Ppp1r12a C T 10: 108,075,973 (GRCm39) T267I probably damaging Het
Pramel15 T C 4: 144,103,727 (GRCm39) D133G probably benign Het
Prpf8 A C 11: 75,394,469 (GRCm39) K1801N possibly damaging Het
Raf1 A G 6: 115,603,667 (GRCm39) probably null Het
Rasal3 C A 17: 32,615,643 (GRCm39) L374F probably damaging Het
S1pr3 T A 13: 51,573,683 (GRCm39) V288D probably damaging Het
Setd7 G A 3: 51,428,886 (GRCm39) P315S probably benign Het
Slx4 C T 16: 3,809,404 (GRCm39) A364T probably benign Het
Sp7 G A 15: 102,267,749 (GRCm39) T19I probably benign Het
Tlr9 T A 9: 106,101,512 (GRCm39) C268S probably damaging Het
Tmem117 T A 15: 94,992,394 (GRCm39) D351E possibly damaging Het
Tmem45b T A 9: 31,339,340 (GRCm39) D211V possibly damaging Het
Tns3 A G 11: 8,401,092 (GRCm39) S1069P probably benign Het
Txndc5 G A 13: 38,697,101 (GRCm39) L79F possibly damaging Het
Ube2q1 A G 3: 89,684,548 (GRCm39) E14G probably benign Het
Vmn2r28 C T 7: 5,490,943 (GRCm39) probably null Het
Vwde A T 6: 13,193,117 (GRCm39) D407E probably benign Het
Wdr35 T A 12: 9,066,619 (GRCm39) M749K probably benign Het
Zfp109 A T 7: 23,928,046 (GRCm39) C462* probably null 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
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
R5943:Tsnax UTSW 8 125,751,278 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGTGACTACATCGTTGGCTG -3'
(R):5'- ACGATTGGTGAGAAGCCCAG -3'

Sequencing Primer
(F):5'- ACATCGTTGGCTGCGTCC -3'
(R):5'- CAGGCGGCCATGCTTGG -3'
Posted On 2016-10-06