Incidental Mutation 'IGL00479:Tsnaxip1'
ID4972
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 #IGL00479
Quality Score
Status
Chromosome8
Chromosomal Location105827731-105844680 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105841423 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 274 (T274A)
Ref Sequence ENSEMBL: ENSMUSP00000034365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000040776] [ENSMUST00000212431] [ENSMUST00000212566]
Predicted Effect probably benign
Transcript: ENSMUST00000034365
AA Change: T274A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: T274A

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
AA Change: T274A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212803
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A C 4: 156,170,572 probably benign Het
Arid4a A G 12: 71,072,593 K651E probably damaging Het
Atpaf2 A T 11: 60,409,584 probably null Het
Cd177 G T 7: 24,758,015 S200R probably benign Het
Cd209g A T 8: 4,135,622 T19S probably benign Het
Cxcr4 A G 1: 128,589,055 W290R probably damaging Het
D930020B18Rik T C 10: 121,685,584 L491P probably damaging Het
Dnah7a T C 1: 53,419,684 D3765G probably damaging Het
Dpy19l4 T G 4: 11,290,411 M327L probably benign Het
Eya3 G A 4: 132,704,398 G314D probably damaging Het
Fam173a A G 17: 25,791,444 Y104H probably damaging Het
Fmo1 G A 1: 162,830,063 T503I probably benign Het
Galnt3 A G 2: 66,095,284 S370P probably damaging Het
Gm5431 A T 11: 48,895,414 S45T probably benign Het
Gnai3 A G 3: 108,115,757 probably benign Het
Gpat2 A G 2: 127,434,461 E637G probably damaging Het
Gpr84 T C 15: 103,309,407 Y81C probably damaging Het
Hnmt A T 2: 24,003,884 Y199* probably null Het
Homer1 G T 13: 93,346,648 R81L probably damaging Het
Hspa4 A T 11: 53,280,717 probably null Het
March6 A G 15: 31,475,763 I649T probably benign Het
Mcm8 A G 2: 132,817,174 N26S probably benign Het
Mgat5 T C 1: 127,387,467 L310P probably damaging Het
Pah T C 10: 87,578,893 L369P probably benign Het
Parp4 A C 14: 56,616,460 K844N possibly damaging Het
Tlr5 A G 1: 182,973,829 T233A probably benign Het
Wdr48 A G 9: 119,905,390 Y125C probably damaging Het
Other mutations in Tsnaxip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Tsnaxip1 APN 8 105842184 missense probably damaging 1.00
IGL00849:Tsnaxip1 APN 8 105842168 missense probably damaging 0.99
IGL01756:Tsnaxip1 APN 8 105842788 splice site probably benign
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 On2012-04-20