Incidental Mutation 'R5806:Tsnaxip1'
ID 448516
Institutional Source Beutler Lab
Gene Symbol Tsnaxip1
Ensembl Gene ENSMUSG00000031893
Gene Name translin-associated factor X (Tsnax) interacting protein 1
Synonyms TXI1, 1700016K08Rik
MMRRC Submission 043392-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.532) question?
Stock # R5806 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 106554363-106571312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106564128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 109 (D109E)
Ref Sequence ENSEMBL: ENSMUSP00000148715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000212566]
AlphaFold Q99P25
Predicted Effect probably benign
Transcript: ENSMUST00000034365
AA Change: D109E

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: D109E

DomainStartEndE-ValueType
Pfam:TSNAXIP1_N 98 209 3.5e-33 PFAM
coiled coil region 304 342 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211949
Predicted Effect possibly damaging
Transcript: ENSMUST00000212566
AA Change: D109E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,388,731 (GRCm39) M216T probably benign Het
Abhd4 A G 14: 54,499,147 (GRCm39) N36D probably benign Het
Ankra2 T C 13: 98,405,005 (GRCm39) probably null Het
Btd A G 14: 31,389,469 (GRCm39) T397A probably benign Het
Ccbe1 T A 18: 66,209,426 (GRCm39) K205* probably null Het
Clspn A G 4: 126,479,899 (GRCm39) K1081E probably damaging Het
Cmya5 A G 13: 93,230,445 (GRCm39) S1548P possibly damaging Het
Coq8b T A 7: 26,950,050 (GRCm39) Y376* probably null Het
Cpxm1 C A 2: 130,239,393 (GRCm39) A12S probably damaging Het
Cttn T C 7: 144,015,005 (GRCm39) T68A probably damaging Het
Cyp2a12 T A 7: 26,728,504 (GRCm39) probably null Het
Ddx46 A G 13: 55,811,150 (GRCm39) Q582R possibly damaging Het
Ddx55 A G 5: 124,697,262 (GRCm39) E208G probably damaging Het
Dnaaf4 T C 9: 72,869,336 (GRCm39) L182P probably benign Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Ep400 A T 5: 110,903,420 (GRCm39) L393* probably null Het
Ern1 G C 11: 106,289,531 (GRCm39) S924C probably damaging Het
Fanci T C 7: 79,098,596 (GRCm39) I1249T probably damaging Het
Fgfbp3 T G 19: 36,895,949 (GRCm39) D223A probably damaging Het
Frmd6 T C 12: 70,936,794 (GRCm39) L313P probably damaging Het
Galnt17 A G 5: 130,906,657 (GRCm39) Y504H probably damaging Het
Gjb5 A G 4: 127,249,718 (GRCm39) I142T probably benign Het
Gvin1 T C 7: 105,757,413 (GRCm39) D2352G probably benign Het
H2-M2 G A 17: 37,792,617 (GRCm39) T218I probably damaging Het
Hal A G 10: 93,326,846 (GRCm39) T161A probably damaging Het
Helb G A 10: 119,928,424 (GRCm39) R806C probably damaging Het
Ift80 T A 3: 68,857,809 (GRCm39) I279F probably benign Het
Itln1 A T 1: 171,358,720 (GRCm39) I149N possibly damaging Het
Kcnt2 A C 1: 140,437,234 (GRCm39) T556P probably damaging Het
Klk1b22 A T 7: 43,765,301 (GRCm39) E84D possibly damaging Het
Krt78 A G 15: 101,858,937 (GRCm39) L305P probably damaging Het
Lzts2 T C 19: 45,014,806 (GRCm39) probably benign Het
Macf1 A G 4: 123,265,680 (GRCm39) L6843P probably damaging Het
Magi2 C A 5: 20,856,202 (GRCm39) H841Q probably benign Het
Mdm1 A T 10: 118,002,563 (GRCm39) H628L probably benign Het
Med23 A G 10: 24,783,119 (GRCm39) D734G probably damaging Het
Mfsd13a T C 19: 46,354,849 (GRCm39) W9R probably benign Het
Mki67 T C 7: 135,306,334 (GRCm39) H576R probably damaging Het
Muc5b A G 7: 141,416,572 (GRCm39) T3173A possibly damaging Het
Mx1 A T 16: 97,255,351 (GRCm39) V234E possibly damaging Het
Myh2 T C 11: 67,072,141 (GRCm39) L623P probably damaging Het
Naip1 C T 13: 100,581,243 (GRCm39) M1I probably null Het
Ncapd2 A T 6: 125,158,117 (GRCm39) V337E probably damaging Het
Nit2 G A 16: 56,982,056 (GRCm39) T64M possibly damaging Het
Or1e34 A T 11: 73,778,373 (GRCm39) M275K probably damaging Het
Or4c103 T C 2: 88,513,495 (GRCm39) N194D probably damaging Het
Or6e1 A T 14: 54,520,264 (GRCm39) F29L probably benign Het
Otub2 A G 12: 103,369,656 (GRCm39) E245G probably benign Het
Pde8b T C 13: 95,178,548 (GRCm39) K524R probably damaging Het
Pih1d2 C T 9: 50,529,750 (GRCm39) probably benign Het
Pik3cg T A 12: 32,254,952 (GRCm39) D345V possibly damaging Het
Plekhg4 A T 8: 106,105,542 (GRCm39) Q669L possibly damaging Het
Prlr A T 15: 10,319,290 (GRCm39) Y73F probably damaging Het
Ptk6 T C 2: 180,841,523 (GRCm39) I129V possibly damaging Het
Ranbp3 A T 17: 57,017,717 (GRCm39) T458S probably benign Het
Ren1 T A 1: 133,283,249 (GRCm39) Y128* probably null Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rnf222 T C 11: 68,783,789 (GRCm39) S119P possibly damaging Het
Rrbp1 T A 2: 143,805,251 (GRCm39) E1007V probably benign Het
Septin11 G A 5: 93,315,437 (GRCm39) E389K probably benign Het
Setbp1 A G 18: 78,899,697 (GRCm39) probably null Het
Slc25a54 T C 3: 108,987,894 (GRCm39) S12P probably benign Het
Slc26a5 A C 5: 22,028,561 (GRCm39) F336V probably damaging Het
Slc5a6 T C 5: 31,198,114 (GRCm39) T254A probably damaging Het
Smcr8 G T 11: 60,671,208 (GRCm39) probably null Het
Srcap A T 7: 127,158,335 (GRCm39) probably benign Het
Srrt A T 5: 137,296,179 (GRCm39) I509N probably damaging Het
Tcf25 T A 8: 124,108,243 (GRCm39) H99Q probably benign Het
Tmem40 A G 6: 115,713,373 (GRCm39) V76A probably benign Het
Tnni3k A T 3: 154,533,248 (GRCm39) S740T possibly damaging Het
Top3a A G 11: 60,667,746 (GRCm39) probably null Het
Tpd52l2 C A 2: 181,144,680 (GRCm39) T109K probably damaging Het
Uty G T Y: 1,170,921 (GRCm39) D313E probably damaging Het
Zfp143 A T 7: 109,685,442 (GRCm39) K423* probably null Het
Zfp407 C T 18: 84,576,739 (GRCm39) G1458D probably damaging Het
Other mutations in Tsnaxip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Tsnaxip1 APN 8 106,568,055 (GRCm39) missense probably benign 0.04
IGL00490:Tsnaxip1 APN 8 106,568,816 (GRCm39) missense probably damaging 1.00
IGL00849:Tsnaxip1 APN 8 106,568,800 (GRCm39) missense probably damaging 0.99
IGL01756:Tsnaxip1 APN 8 106,569,420 (GRCm39) splice site probably benign
IGL01821:Tsnaxip1 APN 8 106,564,148 (GRCm39) missense probably damaging 0.96
IGL02278:Tsnaxip1 APN 8 106,554,413 (GRCm39) utr 5 prime probably benign
IGL02290:Tsnaxip1 APN 8 106,560,119 (GRCm39) missense probably benign 0.00
IGL02980:Tsnaxip1 UTSW 8 106,568,842 (GRCm39) missense probably damaging 0.96
R0239:Tsnaxip1 UTSW 8 106,571,120 (GRCm39) missense possibly damaging 0.96
R0239:Tsnaxip1 UTSW 8 106,571,120 (GRCm39) missense possibly damaging 0.96
R1544:Tsnaxip1 UTSW 8 106,554,383 (GRCm39) start gained probably benign
R1939:Tsnaxip1 UTSW 8 106,566,670 (GRCm39) missense probably benign 0.04
R3024:Tsnaxip1 UTSW 8 106,568,375 (GRCm39) missense probably damaging 1.00
R3695:Tsnaxip1 UTSW 8 106,560,167 (GRCm39) missense possibly damaging 0.61
R3853:Tsnaxip1 UTSW 8 106,567,333 (GRCm39) splice site probably benign
R4044:Tsnaxip1 UTSW 8 106,560,177 (GRCm39) splice site probably null
R4376:Tsnaxip1 UTSW 8 106,568,433 (GRCm39) nonsense probably null
R4627:Tsnaxip1 UTSW 8 106,568,039 (GRCm39) missense probably damaging 1.00
R4790:Tsnaxip1 UTSW 8 106,560,155 (GRCm39) missense probably benign 0.12
R5814:Tsnaxip1 UTSW 8 106,570,603 (GRCm39) missense probably benign 0.00
R6045:Tsnaxip1 UTSW 8 106,570,819 (GRCm39) missense probably benign 0.24
R6374:Tsnaxip1 UTSW 8 106,568,172 (GRCm39) missense possibly damaging 0.55
R6406:Tsnaxip1 UTSW 8 106,570,615 (GRCm39) missense probably benign 0.14
R7915:Tsnaxip1 UTSW 8 106,569,413 (GRCm39) missense possibly damaging 0.88
R7918:Tsnaxip1 UTSW 8 106,571,167 (GRCm39) missense probably benign 0.00
R8317:Tsnaxip1 UTSW 8 106,554,438 (GRCm39) missense probably benign 0.07
R8377:Tsnaxip1 UTSW 8 106,569,179 (GRCm39) missense probably damaging 1.00
R8534:Tsnaxip1 UTSW 8 106,565,370 (GRCm39) missense probably damaging 1.00
R8956:Tsnaxip1 UTSW 8 106,570,813 (GRCm39) missense probably damaging 1.00
R9102:Tsnaxip1 UTSW 8 106,568,622 (GRCm39) missense probably benign 0.34
R9225:Tsnaxip1 UTSW 8 106,566,659 (GRCm39) missense probably damaging 1.00
R9568:Tsnaxip1 UTSW 8 106,569,135 (GRCm39) missense probably benign 0.00
R9606:Tsnaxip1 UTSW 8 106,566,685 (GRCm39) missense probably damaging 1.00
R9738:Tsnaxip1 UTSW 8 106,568,390 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTAGGCTAGGTATTGTTCCAGG -3'
(R):5'- GTCTCATTGTTGCCACCAGG -3'

Sequencing Primer
(F):5'- CTAGGTATTGTTCCAGGACATAGAAC -3'
(R):5'- CACCAGGCCAGAGGTCAAG -3'
Posted On 2016-12-15