Incidental Mutation 'IGL02290:Tsnaxip1'
ID290058
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 #IGL02290
Quality Score
Status
Chromosome8
Chromosomal Location105827731-105844680 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105833487 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 24 (P24T)
Ref Sequence ENSEMBL: ENSMUSP00000148715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034365] [ENSMUST00000212566]
Predicted Effect probably benign
Transcript: ENSMUST00000034365
AA Change: P24T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034365
Gene: ENSMUSG00000031893
AA Change: P24T

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 probably benign
Transcript: ENSMUST00000212566
AA Change: P24T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik G A 13: 60,853,530 P128S probably damaging Het
Abca9 A G 11: 110,135,351 V961A probably damaging Het
Atp2a1 A G 7: 126,452,649 probably benign Het
Col25a1 T A 3: 130,519,811 probably benign Het
Col27a1 A G 4: 63,225,926 D617G probably damaging Het
Cpz T C 5: 35,511,142 T375A probably benign Het
Faxc T A 4: 21,993,390 S345T possibly damaging Het
Ganc C T 2: 120,448,423 T707I possibly damaging Het
Hars2 T C 18: 36,785,626 V55A possibly damaging Het
Lama4 A T 10: 39,017,364 I156F probably benign Het
Mtrf1 G T 14: 79,401,811 E128* probably null Het
Ndc1 T C 4: 107,394,995 probably benign Het
Ntrk1 A C 3: 87,781,771 N537K probably benign Het
Olfr1198 T C 2: 88,746,385 T168A probably benign Het
Olfr23 A G 11: 73,940,869 I208V probably benign Het
Scn11a A G 9: 119,774,442 I1053T probably damaging Het
Slc27a4 T A 2: 29,815,729 L643Q probably damaging Het
Vmn1r78 A G 7: 12,153,155 E231G probably damaging Het
Vmn2r124 T G 17: 18,073,335 H561Q probably benign Het
Zbtb12 G A 17: 34,895,472 A78T probably damaging Het
Zp3r C T 1: 130,619,365 V25I possibly damaging 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
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
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 On2015-04-16