Incidental Mutation 'IGL03358:Tsr1'
ID420012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsr1
Ensembl Gene ENSMUSG00000038335
Gene NameTSR1 20S rRNA accumulation
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL03358
Quality Score
Status
Chromosome11
Chromosomal Location74898071-74909342 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74903998 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 493 (V493A)
Ref Sequence ENSEMBL: ENSMUSP00000039027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000128230] [ENSMUST00000153316] [ENSMUST00000155702]
Predicted Effect probably benign
Transcript: ENSMUST00000045807
AA Change: V493A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: V493A

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
AARP2CN 228 309 1.14e-28 SMART
low complexity region 373 383 N/A INTRINSIC
low complexity region 407 421 N/A INTRINSIC
low complexity region 429 452 N/A INTRINSIC
coiled coil region 453 478 N/A INTRINSIC
DUF663 486 772 2.6e-179 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065211
SMART Domains Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104449
Predicted Effect probably benign
Transcript: ENSMUST00000108447
SMART Domains Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 179 1.8e-41 PFAM
Pfam:PALP 173 289 4.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108448
SMART Domains Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 314 2.1e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121738
SMART Domains Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127499
Predicted Effect probably benign
Transcript: ENSMUST00000128230
SMART Domains Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144019
Predicted Effect unknown
Transcript: ENSMUST00000153316
AA Change: V10A
Predicted Effect probably benign
Transcript: ENSMUST00000155702
SMART Domains Protein: ENSMUSP00000119868
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
low complexity region 39 58 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155785
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik T C 16: 64,766,546 I272V possibly damaging Het
4930590J08Rik A G 6: 91,928,735 N496D probably damaging Het
Adcy2 C T 13: 68,729,277 G448E probably damaging Het
Alad G A 4: 62,510,607 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Appbp2 A T 11: 85,210,034 M193K probably benign Het
Cd300a G A 11: 114,897,797 M204I possibly damaging Het
Cep350 T A 1: 155,928,539 M933L probably benign Het
Cyp2s1 T A 7: 25,808,148 N292I probably damaging Het
Ddx58 T C 4: 40,206,069 E841G possibly damaging Het
Gnl2 T C 4: 125,052,594 I536T probably damaging Het
Ift140 C T 17: 25,087,984 R898C probably damaging Het
Oosp2 A T 19: 11,651,569 L56* probably null Het
Pars2 A T 4: 106,653,042 H7L probably benign Het
Pbx4 T C 8: 69,859,111 S59P probably benign Het
Psg20 G T 7: 18,680,966 H332N probably benign Het
Slc6a13 G A 6: 121,334,536 V384I probably benign Het
Spg21 G A 9: 65,480,416 V164I probably benign Het
Tnc A T 4: 64,017,615 C361* probably null Het
Ube2u A G 4: 100,547,275 probably benign Het
Vav3 G A 3: 109,647,673 G79E probably damaging Het
Vmn1r81 T G 7: 12,260,305 R125S possibly damaging Het
Vmn2r45 A C 7: 8,471,716 L771R probably damaging Het
Vps54 T A 11: 21,268,799 H119Q probably damaging Het
Other mutations in Tsr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02568:Tsr1 APN 11 74900378 missense probably benign 0.19
IGL02959:Tsr1 APN 11 74900249 missense probably benign 0.00
IGL03230:Tsr1 APN 11 74900471 missense probably benign 0.00
R0684:Tsr1 UTSW 11 74907941 missense probably damaging 1.00
R1452:Tsr1 UTSW 11 74899599 missense probably benign 0.21
R1484:Tsr1 UTSW 11 74902088 missense probably damaging 1.00
R1831:Tsr1 UTSW 11 74900356 missense probably benign 0.00
R2166:Tsr1 UTSW 11 74907454 splice site probably null
R2185:Tsr1 UTSW 11 74902080 missense probably damaging 1.00
R2273:Tsr1 UTSW 11 74904827 critical splice acceptor site probably null
R2274:Tsr1 UTSW 11 74904827 critical splice acceptor site probably null
R2275:Tsr1 UTSW 11 74904827 critical splice acceptor site probably null
R2289:Tsr1 UTSW 11 74899285 missense probably damaging 0.98
R3606:Tsr1 UTSW 11 74905233 missense probably benign 0.01
R4928:Tsr1 UTSW 11 74907879 missense probably benign
R5260:Tsr1 UTSW 11 74905955 missense probably damaging 1.00
R6020:Tsr1 UTSW 11 74900293 unclassified probably null
R6743:Tsr1 UTSW 11 74908351 missense probably benign 0.00
R7068:Tsr1 UTSW 11 74903919 nonsense probably null
R7117:Tsr1 UTSW 11 74899534 missense probably benign
R7868:Tsr1 UTSW 11 74900332 missense possibly damaging 0.66
R7951:Tsr1 UTSW 11 74900332 missense possibly damaging 0.66
X0010:Tsr1 UTSW 11 74903874 missense possibly damaging 0.78
X0026:Tsr1 UTSW 11 74900227 missense probably benign 0.04
Posted On2016-08-02