Incidental Mutation 'IGL00324:Tsen34'
ID5340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsen34
Ensembl Gene ENSMUSG00000035585
Gene NametRNA splicing endonuclease subunit 34
SynonymsLeng5, 0610027F08Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.896) question?
Stock #IGL00324
Quality Score
Status
Chromosome7
Chromosomal Location3692863-3701024 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 3700531 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tryptophan at position 296 (*296W)
Ref Sequence ENSEMBL: ENSMUSP00000145965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006496] [ENSMUST00000038521] [ENSMUST00000108623] [ENSMUST00000108624] [ENSMUST00000108625] [ENSMUST00000108627] [ENSMUST00000108629] [ENSMUST00000108630] [ENSMUST00000126562] [ENSMUST00000139818] [ENSMUST00000205287] [ENSMUST00000155060] [ENSMUST00000146927]
Predicted Effect probably benign
Transcript: ENSMUST00000006496
SMART Domains Protein: ENSMUSP00000006496
Gene: ENSMUSG00000006333

DomainStartEndE-ValueType
Pfam:Ribosomal_S4 6 107 1.1e-33 PFAM
S4 108 179 6.84e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000038521
AA Change: D252G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585
AA Change: D252G

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Pfam:tRNA_int_endo 219 303 2.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108623
SMART Domains Protein: ENSMUSP00000104263
Gene: ENSMUSG00000006333

DomainStartEndE-ValueType
Pfam:Ribosomal_S4 6 107 6.7e-34 PFAM
Pfam:S4 108 137 2.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108624
SMART Domains Protein: ENSMUSP00000104264
Gene: ENSMUSG00000006333

DomainStartEndE-ValueType
Pfam:Ribosomal_S4 6 78 4.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108625
SMART Domains Protein: ENSMUSP00000104265
Gene: ENSMUSG00000006333

DomainStartEndE-ValueType
Ribosomal_S4 3 107 3.47e-16 SMART
S4 108 179 6.84e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108627
AA Change: D256G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585
AA Change: D256G

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Pfam:tRNA_int_endo 223 307 4.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108629
SMART Domains Protein: ENSMUSP00000104269
Gene: ENSMUSG00000035585

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Pfam:tRNA_int_endo 223 256 3.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108630
AA Change: D256G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585
AA Change: D256G

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Pfam:tRNA_int_endo 223 307 7.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126562
SMART Domains Protein: ENSMUSP00000120736
Gene: ENSMUSG00000006333

DomainStartEndE-ValueType
Pfam:Ribosomal_S4 6 107 1.3e-33 PFAM
Pfam:S4 108 136 2.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139396
Predicted Effect probably benign
Transcript: ENSMUST00000139818
SMART Domains Protein: ENSMUSP00000114894
Gene: ENSMUSG00000006333

DomainStartEndE-ValueType
Pfam:Ribosomal_S4 6 58 2.3e-14 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000205287
AA Change: *296W
Predicted Effect probably damaging
Transcript: ENSMUST00000147288
AA Change: D93G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146303
Predicted Effect probably benign
Transcript: ENSMUST00000155060
SMART Domains Protein: ENSMUSP00000118816
Gene: ENSMUSG00000035585

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146927
SMART Domains Protein: ENSMUSP00000116623
Gene: ENSMUSG00000006333

DomainStartEndE-ValueType
Pfam:Ribosomal_S4 2 103 1.3e-33 PFAM
Pfam:S4 104 133 2.5e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T C 3: 121,776,993 probably benign Het
Cdk12 T A 11: 98,245,388 L1156Q unknown Het
Ctsl T C 13: 64,368,168 Y66C probably damaging Het
Esd C T 14: 74,736,027 H21Y probably damaging Het
Fcrlb A C 1: 170,908,824 Y128D possibly damaging Het
Gm17027 A T 14: 42,159,310 N196K unknown Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Hpcal1 A G 12: 17,791,145 S175G probably benign Het
Itgam A T 7: 128,085,661 D401V probably damaging Het
Kank1 A G 19: 25,411,758 T932A probably benign Het
Lmod1 A G 1: 135,364,478 K357R probably benign Het
Muc4 A G 16: 32,778,812 I3271V probably benign Het
Nlrc5 A G 8: 94,521,479 K1692E probably damaging Het
Ocln A G 13: 100,535,013 W279R probably damaging Het
Olfr1181 T C 2: 88,423,786 I80V probably benign Het
Pcsk1 A G 13: 75,132,087 K677R probably benign Het
Pitrm1 T A 13: 6,568,666 L586Q probably damaging Het
Plppr3 G A 10: 79,866,669 S217L probably damaging Het
Pnldc1 A T 17: 12,905,758 probably benign Het
Pramef12 A G 4: 144,394,740 L238P possibly damaging Het
Pramef8 T A 4: 143,416,667 M1K probably null Het
Sema6b C T 17: 56,130,048 D204N probably damaging Het
Slc12a5 A G 2: 164,997,121 N1063S probably damaging Het
Tg T C 15: 66,693,424 V1205A probably benign Het
Tmem260 T C 14: 48,486,879 F205L probably benign Het
Trappc11 A T 8: 47,503,302 probably benign Het
Ubr2 A G 17: 46,986,060 probably benign Het
Vmn2r23 T A 6: 123,729,725 W505R possibly damaging Het
Wbp11 A G 6: 136,821,670 probably benign Het
Znfx1 A T 2: 167,036,729 M1909K possibly damaging Het
Other mutations in Tsen34
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1612:Tsen34 UTSW 7 3695396 missense probably damaging 0.99
R2441:Tsen34 UTSW 7 3694995 missense possibly damaging 0.92
R4455:Tsen34 UTSW 7 3695098 splice site probably null
R4702:Tsen34 UTSW 7 3700633 missense probably damaging 1.00
R4870:Tsen34 UTSW 7 3694381 unclassified probably benign
R5950:Tsen34 UTSW 7 3694788 missense probably null 0.97
R6221:Tsen34 UTSW 7 3695544 missense probably damaging 0.99
R6266:Tsen34 UTSW 7 3693985 unclassified probably benign
R7121:Tsen34 UTSW 7 3694987 missense probably benign 0.18
R7134:Tsen34 UTSW 7 3700641 missense probably damaging 0.98
R7190:Tsen34 UTSW 7 3694807 missense possibly damaging 0.94
R7345:Tsen34 UTSW 7 3695615 missense probably damaging 1.00
R7448:Tsen34 UTSW 7 3695835 critical splice donor site probably null
R7743:Tsen34 UTSW 7 3694602 missense possibly damaging 0.54
R7887:Tsen34 UTSW 7 3694708 missense probably damaging 1.00
RF020:Tsen34 UTSW 7 3695796 frame shift probably null
Posted On2012-04-20