Incidental Mutation 'IGL01756:Tsnaxip1'
ID153459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsnaxip1
Ensembl Gene ENSMUSG00000031893
Gene Nametranslin-associated factor X (Tsnax) interacting protein 1
Synonyms1700016K08Rik, TXI1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.509) question?
Stock #IGL01756
Quality Score
Status
Chromosome8
Chromosomal Location105827731-105844680 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 105842788 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212566]
Predicted Effect probably benign
Transcript: ENSMUST00000034365
SMART Domains Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893

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 noncoding transcript
Transcript: ENSMUST00000211949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212357
Predicted Effect probably benign
Transcript: ENSMUST00000212431
Predicted Effect probably benign
Transcript: ENSMUST00000212566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrnl1 A G 19: 57,652,948 N343D probably benign Het
Birc6 T C 17: 74,640,208 V2974A probably benign Het
Cngb3 A C 4: 19,367,850 D253A probably damaging Het
Cog4 A T 8: 110,853,759 K154* probably null Het
Col6a3 T A 1: 90,779,162 E2076D unknown Het
Cox7a2 T G 9: 79,758,555 T15P probably benign Het
Cyp4f39 T A 17: 32,483,441 L304* probably null Het
Ddx58 A T 4: 40,209,934 N666K probably damaging Het
Gucy2e A T 11: 69,232,852 L407Q probably damaging Het
Hectd4 T C 5: 121,344,824 I3146T probably benign Het
Hipk4 T A 7: 27,528,543 L238* probably null Het
Igf2r C T 17: 12,683,822 R2447Q probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Klkb1 T A 8: 45,272,324 K526M probably damaging Het
Ninl T C 2: 150,979,516 E66G probably damaging Het
Pde8b A G 13: 95,046,387 S288P probably damaging Het
Sar1a T A 10: 61,686,456 M109K probably benign Het
Snx18 T A 13: 113,617,516 T294S probably benign Het
Srek1 C T 13: 103,760,582 D84N probably damaging Het
Trem1 G A 17: 48,237,113 W55* probably null Het
Vmn2r43 A G 7: 8,255,584 L210S probably benign Het
Other mutations in Tsnaxip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Tsnaxip1 APN 8 105841423 missense probably benign 0.04
IGL00490:Tsnaxip1 APN 8 105842184 missense probably damaging 1.00
IGL00849:Tsnaxip1 APN 8 105842168 missense probably damaging 0.99
IGL01821:Tsnaxip1 APN 8 105837516 missense probably damaging 0.96
IGL02278:Tsnaxip1 APN 8 105827781 utr 5 prime probably benign
IGL02290:Tsnaxip1 APN 8 105833487 missense probably benign 0.00
IGL02980:Tsnaxip1 UTSW 8 105842210 missense probably damaging 0.96
R0239:Tsnaxip1 UTSW 8 105844488 missense possibly damaging 0.96
R0239:Tsnaxip1 UTSW 8 105844488 missense possibly damaging 0.96
R1544:Tsnaxip1 UTSW 8 105827751 start gained probably benign
R1939:Tsnaxip1 UTSW 8 105840038 missense probably benign 0.04
R3024:Tsnaxip1 UTSW 8 105841743 missense probably damaging 1.00
R3695:Tsnaxip1 UTSW 8 105833535 missense possibly damaging 0.61
R3853:Tsnaxip1 UTSW 8 105840701 splice site probably benign
R4044:Tsnaxip1 UTSW 8 105833545 splice site probably null
R4376:Tsnaxip1 UTSW 8 105841801 nonsense probably null
R4627:Tsnaxip1 UTSW 8 105841407 missense probably damaging 1.00
R4790:Tsnaxip1 UTSW 8 105833523 missense probably benign 0.12
R5806:Tsnaxip1 UTSW 8 105837496 missense possibly damaging 0.83
R5814:Tsnaxip1 UTSW 8 105843971 missense probably benign 0.00
R6045:Tsnaxip1 UTSW 8 105844187 missense probably benign 0.24
R6374:Tsnaxip1 UTSW 8 105841540 missense possibly damaging 0.55
R6406:Tsnaxip1 UTSW 8 105843983 missense probably benign 0.14
R7915:Tsnaxip1 UTSW 8 105842781 missense possibly damaging 0.88
R7918:Tsnaxip1 UTSW 8 105844535 missense probably benign 0.00
R8317:Tsnaxip1 UTSW 8 105827806 missense probably benign 0.07
R8377:Tsnaxip1 UTSW 8 105842547 missense probably damaging 1.00
R8534:Tsnaxip1 UTSW 8 105838738 missense probably damaging 1.00
Posted On2014-02-04