Incidental Mutation 'R6266:Tsen34'
ID 507002
Institutional Source Beutler Lab
Gene Symbol Tsen34
Ensembl Gene ENSMUSG00000035585
Gene Name tRNA splicing endonuclease subunit 34
Synonyms Leng5, 0610027F08Rik
MMRRC Submission 044378-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R6266 (G1)
Quality Score 126.008
Status Not validated
Chromosome 7
Chromosomal Location 3696086-3704034 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 3696984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038521] [ENSMUST00000038608] [ENSMUST00000108627] [ENSMUST00000108629] [ENSMUST00000108630] [ENSMUST00000118710] [ENSMUST00000142713] [ENSMUST00000127106] [ENSMUST00000128364] [ENSMUST00000123088] [ENSMUST00000155060] [ENSMUST00000137204] [ENSMUST00000205287] [ENSMUST00000206379] [ENSMUST00000206343] [ENSMUST00000205734] [ENSMUST00000206571]
AlphaFold Q8BMZ5
Predicted Effect probably benign
Transcript: ENSMUST00000038521
SMART Domains Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585

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: ENSMUST00000038608
SMART Domains Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:MBOAT 57 420 2.4e-37 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108627
SMART Domains Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585

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 benign
Transcript: ENSMUST00000108630
SMART Domains Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585

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: ENSMUST00000118710
SMART Domains Protein: ENSMUSP00000112710
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
Pfam:MBOAT 86 343 1.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142713
SMART Domains Protein: ENSMUSP00000118440
Gene: ENSMUSG00000035585

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127106
SMART Domains Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128364
SMART Domains Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 32 46 N/A INTRINSIC
low complexity region 58 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123088
SMART Domains Protein: ENSMUSP00000123614
Gene: ENSMUSG00000035585

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155060
SMART Domains Protein: ENSMUSP00000118816
Gene: ENSMUSG00000035585

DomainStartEndE-ValueType
low complexity region 45 61 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139396
Predicted Effect probably benign
Transcript: ENSMUST00000137204
SMART Domains Protein: ENSMUSP00000120403
Gene: ENSMUSG00000035585

DomainStartEndE-ValueType
low complexity region 69 85 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147288
Predicted Effect probably benign
Transcript: ENSMUST00000205287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150785
Predicted Effect probably benign
Transcript: ENSMUST00000206379
Predicted Effect probably benign
Transcript: ENSMUST00000206343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205644
Predicted Effect probably benign
Transcript: ENSMUST00000205734
Predicted Effect probably benign
Transcript: ENSMUST00000206571
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,320,206 (GRCm39) T295A probably benign Het
Aldh2 C A 5: 121,706,997 (GRCm39) V217L probably damaging Het
Arap3 G A 18: 38,123,844 (GRCm39) R392C probably damaging Het
Aurkaip1 T G 4: 155,916,977 (GRCm39) L75R probably damaging Het
Blm C A 7: 80,149,688 (GRCm39) K640N probably benign Het
Brap A T 5: 121,823,328 (GRCm39) T487S probably benign Het
Ccser2 G A 14: 36,601,632 (GRCm39) P276L probably damaging Het
Cdc42bpg A G 19: 6,361,503 (GRCm39) E343G probably damaging Het
Cecr2 A G 6: 120,738,647 (GRCm39) S1097G probably benign Het
D7Ertd443e A T 7: 133,951,514 (GRCm39) V53D probably damaging Het
Ddx3y G A Y: 1,266,635 (GRCm39) T274I probably damaging Homo
Dnah5 T A 15: 28,335,773 (GRCm39) F2246L possibly damaging Het
Dock3 T A 9: 106,841,952 (GRCm39) H959L probably damaging Het
Dpy19l1 A G 9: 24,350,442 (GRCm39) S406P probably damaging Het
Efcab8 T C 2: 153,625,688 (GRCm39) L116P probably damaging Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fbxl12 A T 9: 20,549,911 (GRCm39) L271Q probably damaging Het
Fmn1 T A 2: 113,426,683 (GRCm39) N1133K probably damaging Het
Frmpd2 T C 14: 33,287,864 (GRCm39) S1219P probably benign Het
Gm7298 A T 6: 121,759,663 (GRCm39) R1187S probably damaging Het
H6pd T C 4: 150,080,414 (GRCm39) I136V probably benign Het
Hyal2 A G 9: 107,447,914 (GRCm39) N189S probably benign Het
Jmjd1c C T 10: 67,085,439 (GRCm39) P2410S probably damaging Het
Larp1 A G 11: 57,933,089 (GRCm39) D231G probably damaging Het
Lilra5 T A 7: 4,244,927 (GRCm39) S233T possibly damaging Het
Lrrc43 T C 5: 123,641,340 (GRCm39) F508S probably damaging Het
Marchf4 T C 1: 72,491,647 (GRCm39) Y208C probably damaging Het
Mtarc2 T C 1: 184,566,140 (GRCm39) R85G probably damaging Het
Nr1h2 A T 7: 44,201,476 (GRCm39) C45* probably null Het
Or10ag2 T A 2: 87,249,350 (GRCm39) S319R probably benign Het
Or2n1e A G 17: 38,586,039 (GRCm39) I126V probably benign Het
Ppp2r5d G T 17: 46,996,629 (GRCm39) probably null Het
Prpf40a A T 2: 53,046,639 (GRCm39) S324T probably benign Het
Psmb7 T C 2: 38,530,199 (GRCm39) D94G probably damaging Het
Psmd11 A G 11: 80,336,767 (GRCm39) T140A probably benign Het
Pygm T C 19: 6,448,169 (GRCm39) I737T probably damaging Het
Rbp3 G A 14: 33,676,418 (GRCm39) R122H probably benign Het
Relch T G 1: 105,659,007 (GRCm39) probably null Het
Rrp8 T C 7: 105,385,596 (GRCm39) E3G probably damaging Het
Sacm1l T C 9: 123,371,485 (GRCm39) S37P probably damaging Het
Slc12a3 A G 8: 95,085,099 (GRCm39) R939G possibly damaging Het
Slc20a1 T C 2: 129,051,814 (GRCm39) S608P possibly damaging Het
Sntg1 T C 1: 8,624,953 (GRCm39) Q281R possibly damaging Het
Spata31d1e C T 13: 59,890,126 (GRCm39) V147I probably benign Het
Tefm A G 11: 80,028,814 (GRCm39) L194P probably damaging Het
Terf2ip T A 8: 112,738,547 (GRCm39) V145E probably damaging Het
Tmem231 T A 8: 112,641,897 (GRCm39) E219V probably null Het
Tmx3 T A 18: 90,555,334 (GRCm39) probably null Het
Tns3 G A 11: 8,442,987 (GRCm39) P459S probably damaging Het
Trav13d-1 T A 14: 53,089,220 (GRCm39) S76R probably benign Het
Trp63 A G 16: 25,681,210 (GRCm39) N254S probably damaging Het
Unc13d A G 11: 115,959,064 (GRCm39) V701A probably damaging Het
Usp36 A G 11: 118,159,411 (GRCm39) S513P probably damaging Het
Uspl1 T A 5: 149,141,176 (GRCm39) S392T probably damaging Het
Vmn2r102 T A 17: 19,899,007 (GRCm39) C450S probably benign Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zkscan7 C T 9: 122,724,299 (GRCm39) Q423* probably null Het
Other mutations in Tsen34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Tsen34 APN 7 3,703,530 (GRCm39) makesense probably null
R1612:Tsen34 UTSW 7 3,698,395 (GRCm39) missense probably damaging 0.99
R2441:Tsen34 UTSW 7 3,697,994 (GRCm39) missense possibly damaging 0.92
R4455:Tsen34 UTSW 7 3,698,097 (GRCm39) splice site probably null
R4702:Tsen34 UTSW 7 3,703,632 (GRCm39) missense probably damaging 1.00
R4870:Tsen34 UTSW 7 3,697,380 (GRCm39) unclassified probably benign
R5950:Tsen34 UTSW 7 3,697,787 (GRCm39) missense probably null 0.97
R6221:Tsen34 UTSW 7 3,698,543 (GRCm39) missense probably damaging 0.99
R7121:Tsen34 UTSW 7 3,697,986 (GRCm39) missense probably benign 0.18
R7134:Tsen34 UTSW 7 3,703,640 (GRCm39) missense probably damaging 0.98
R7190:Tsen34 UTSW 7 3,697,806 (GRCm39) missense possibly damaging 0.94
R7345:Tsen34 UTSW 7 3,698,614 (GRCm39) missense probably damaging 1.00
R7448:Tsen34 UTSW 7 3,698,834 (GRCm39) critical splice donor site probably null
R7743:Tsen34 UTSW 7 3,697,601 (GRCm39) missense possibly damaging 0.54
R7887:Tsen34 UTSW 7 3,697,707 (GRCm39) missense probably damaging 1.00
R8723:Tsen34 UTSW 7 3,698,149 (GRCm39) missense probably benign 0.00
R8916:Tsen34 UTSW 7 3,697,340 (GRCm39) unclassified probably benign
RF020:Tsen34 UTSW 7 3,698,795 (GRCm39) frame shift probably null
Predicted Primers
Posted On 2018-03-15