Incidental Mutation 'R2185:Tsr1'
ID 237834
Institutional Source Beutler Lab
Gene Symbol Tsr1
Ensembl Gene ENSMUSG00000038335
Gene Name TSR1 20S rRNA accumulation
Synonyms
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74788906-74800166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74792906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 405 (I405V)
Ref Sequence ENSEMBL: ENSMUSP00000039027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000155702] [ENSMUST00000153316] [ENSMUST00000128230] [ENSMUST00000121738]
AlphaFold Q5SWD9
Predicted Effect probably damaging
Transcript: ENSMUST00000045807
AA Change: I405V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: I405V

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 noncoding transcript
Transcript: ENSMUST00000130910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144019
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 probably benign
Transcript: ENSMUST00000153316
Predicted Effect probably benign
Transcript: ENSMUST00000128230
SMART Domains Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

DomainStartEndE-ValueType
low complexity region 16 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121738
SMART Domains Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 314 3.3e-75 PFAM
Meta Mutation Damage Score 0.1746 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Tsr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02568:Tsr1 APN 11 74,791,204 (GRCm39) missense probably benign 0.19
IGL02959:Tsr1 APN 11 74,791,075 (GRCm39) missense probably benign 0.00
IGL03230:Tsr1 APN 11 74,791,297 (GRCm39) missense probably benign 0.00
IGL03358:Tsr1 APN 11 74,794,824 (GRCm39) missense probably benign 0.13
R0684:Tsr1 UTSW 11 74,798,767 (GRCm39) missense probably damaging 1.00
R1452:Tsr1 UTSW 11 74,790,425 (GRCm39) missense probably benign 0.21
R1484:Tsr1 UTSW 11 74,792,914 (GRCm39) missense probably damaging 1.00
R1831:Tsr1 UTSW 11 74,791,182 (GRCm39) missense probably benign 0.00
R2166:Tsr1 UTSW 11 74,798,280 (GRCm39) splice site probably null
R2273:Tsr1 UTSW 11 74,795,653 (GRCm39) critical splice acceptor site probably null
R2274:Tsr1 UTSW 11 74,795,653 (GRCm39) critical splice acceptor site probably null
R2275:Tsr1 UTSW 11 74,795,653 (GRCm39) critical splice acceptor site probably null
R2289:Tsr1 UTSW 11 74,790,111 (GRCm39) missense probably damaging 0.98
R3606:Tsr1 UTSW 11 74,796,059 (GRCm39) missense probably benign 0.01
R4928:Tsr1 UTSW 11 74,798,705 (GRCm39) missense probably benign
R5260:Tsr1 UTSW 11 74,796,781 (GRCm39) missense probably damaging 1.00
R6020:Tsr1 UTSW 11 74,791,119 (GRCm39) splice site probably null
R6743:Tsr1 UTSW 11 74,799,177 (GRCm39) missense probably benign 0.00
R7068:Tsr1 UTSW 11 74,794,745 (GRCm39) nonsense probably null
R7117:Tsr1 UTSW 11 74,790,360 (GRCm39) missense probably benign
R7868:Tsr1 UTSW 11 74,791,158 (GRCm39) missense possibly damaging 0.66
R8392:Tsr1 UTSW 11 74,791,096 (GRCm39) missense probably benign 0.40
R8734:Tsr1 UTSW 11 74,794,652 (GRCm39) missense probably benign
R8767:Tsr1 UTSW 11 74,799,149 (GRCm39) missense probably damaging 0.96
R8904:Tsr1 UTSW 11 74,790,217 (GRCm39) nonsense probably null
R9261:Tsr1 UTSW 11 74,799,056 (GRCm39) missense probably damaging 1.00
R9295:Tsr1 UTSW 11 74,799,135 (GRCm39) missense probably damaging 1.00
R9345:Tsr1 UTSW 11 74,790,126 (GRCm39) missense probably benign 0.03
R9802:Tsr1 UTSW 11 74,799,225 (GRCm39) missense possibly damaging 0.54
X0010:Tsr1 UTSW 11 74,794,700 (GRCm39) missense possibly damaging 0.78
X0026:Tsr1 UTSW 11 74,791,053 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ATGACATTAGGCCCACTGC -3'
(R):5'- CCCTTAGTTACAGCAGCTGAC -3'

Sequencing Primer
(F):5'- CCACTGCAGGGTTTATTTAGC -3'
(R):5'- AGCTGACTTTACAGTACAGCCTTGG -3'
Posted On 2014-10-02