Incidental Mutation 'R7918:Tsnaxip1'
ID 648189
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 045966-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.532) question?
Stock # R7918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 106554363-106571312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106571167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 676 (I676V)
Ref Sequence ENSEMBL: ENSMUSP00000034365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212566] [ENSMUST00000212839]
AlphaFold Q99P25
Predicted Effect probably benign
Transcript: ENSMUST00000034365
AA Change: I676V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: I676V

DomainStartEndE-ValueType
Pfam:TSNAXIP1_N 98 209 3.5e-33 PFAM
coiled coil region 304 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040776
SMART Domains Protein: ENSMUSP00000038188
Gene: ENSMUSG00000036672

DomainStartEndE-ValueType
Pfam:CENP-T_N 1 374 4.2e-174 PFAM
Pfam:CENP-T_C 404 507 5.4e-36 PFAM
Pfam:CENP-S 424 479 3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212431
Predicted Effect unknown
Transcript: ENSMUST00000212566
AA Change: I598V
Predicted Effect probably benign
Transcript: ENSMUST00000212839
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik G A 5: 130,413,269 (GRCm39) T30I unknown Het
Adam21 A G 12: 81,607,378 (GRCm39) V128A possibly damaging Het
Adam26a T C 8: 44,022,566 (GRCm39) Y308C probably damaging Het
Adam26b A G 8: 43,974,138 (GRCm39) V288A probably benign Het
Ankrd29 A C 18: 12,428,979 (GRCm39) L30R probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Cacna1g A G 11: 94,334,856 (GRCm39) I817T probably benign Het
Catsperd T C 17: 56,938,564 (GRCm39) F31L probably benign Het
Cep164 A G 9: 45,690,986 (GRCm39) probably null Het
Clca4b T C 3: 144,619,033 (GRCm39) Y702C probably damaging Het
Clstn1 A G 4: 149,728,508 (GRCm39) I655V probably damaging Het
Dock1 A G 7: 134,747,147 (GRCm39) E1486G probably damaging Het
Epha8 A G 4: 136,661,877 (GRCm39) F573L probably benign Het
Exoc1 A G 5: 76,691,840 (GRCm39) N323S probably benign Het
Exoc6b C T 6: 85,046,332 (GRCm39) R19Q probably damaging Het
Gcsam T C 16: 45,440,502 (GRCm39) *182R probably null Het
Ighv9-2 T C 12: 114,072,911 (GRCm39) I21V probably benign Het
Ints2 G A 11: 86,113,043 (GRCm39) T825M probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lad1 A G 1: 135,757,454 (GRCm39) T398A probably benign Het
Lrfn2 T C 17: 49,378,212 (GRCm39) V431A probably damaging Het
Mast2 T C 4: 116,292,732 (GRCm39) I79M possibly damaging Het
Nup107 A G 10: 117,617,905 (GRCm39) V171A probably benign Het
Or1e1c T C 11: 73,265,923 (GRCm39) F119S probably damaging Het
Or8b101 T A 9: 38,020,103 (GRCm39) Y35* probably null Het
Or8g37 C A 9: 39,731,406 (GRCm39) T157K probably damaging Het
Pde4dip T A 3: 97,622,539 (GRCm39) K1557* probably null Het
Plat C T 8: 23,263,655 (GRCm39) P185S probably damaging Het
Plcg1 T G 2: 160,595,585 (GRCm39) V511G probably damaging Het
Plxnb3 C T X: 72,811,251 (GRCm39) A1258V probably benign Het
Rnf223 T C 4: 156,217,240 (GRCm39) V205A probably benign Het
Slc13a1 G C 6: 24,118,065 (GRCm39) T224R probably benign Het
Slc39a10 T A 1: 46,874,912 (GRCm39) H130L possibly damaging Het
Sucnr1 T A 3: 59,993,790 (GRCm39) I106N probably damaging Het
Syde2 T C 3: 145,708,170 (GRCm39) probably null Het
Syne1 T C 10: 5,309,078 (GRCm39) I644V possibly damaging Het
Tbc1d8 A C 1: 39,441,809 (GRCm39) F261C probably damaging Het
Tmem132e A G 11: 82,336,116 (GRCm39) Y1066C probably damaging Het
Trip12 A C 1: 84,722,784 (GRCm39) I1322S probably damaging Het
Vmn1r231 A T 17: 21,110,236 (GRCm39) Y226* probably null Het
Vmn2r63 G C 7: 42,552,955 (GRCm39) A767G probably damaging Het
Wdr5b A G 16: 35,862,192 (GRCm39) T104A probably damaging Het
Zbed5 T C 5: 129,930,504 (GRCm39) V151A possibly damaging Het
Zc3h7b T C 15: 81,653,189 (GRCm39) F31S probably damaging Het
Zfp874b A T 13: 67,622,279 (GRCm39) C340S possibly damaging Het
Zmym4 T A 4: 126,804,797 (GRCm39) probably null 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
R5806:Tsnaxip1 UTSW 8 106,564,128 (GRCm39) missense possibly damaging 0.83
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
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'- CCCTTCAGATCAGGGTACAGAG -3'
(R):5'- CCCAGCCTGGAAAGGAATAG -3'

Sequencing Primer
(F):5'- GAGAGAAGAGCTCAAACCTGCATTC -3'
(R):5'- CCTGGAAAGGAATAGGAATTAAAGAC -3'
Posted On 2020-09-15