Incidental Mutation 'R2289:Tsr1'
ID 244221
Institutional Source Beutler Lab
Gene Symbol Tsr1
Ensembl Gene ENSMUSG00000038335
Gene Name TSR1 20S rRNA accumulation
Synonyms
MMRRC Submission 040288-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R2289 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 74788906-74800166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 74790111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 102 (L102R)
Ref Sequence ENSEMBL: ENSMUSP00000039027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000057631] [ENSMUST00000081799] [ENSMUST00000128230] [ENSMUST00000153316] [ENSMUST00000155702]
AlphaFold Q5SWD9
Predicted Effect probably damaging
Transcript: ENSMUST00000045807
AA Change: L102R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: L102R

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: ENSMUST00000057631
SMART Domains Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 453 476 N/A INTRINSIC
TBC 563 965 3.57e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081799
SMART Domains Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351

DomainStartEndE-ValueType
RUN 128 188 4.3e-18 SMART
low complexity region 446 453 N/A INTRINSIC
low complexity region 498 521 N/A INTRINSIC
TBC 608 1010 3.57e-34 SMART
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: ENSMUST00000144019
Predicted Effect probably benign
Transcript: ENSMUST00000153316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155785
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp12a G A 14: 56,610,719 (GRCm39) V288I possibly damaging Het
Cntn6 C T 6: 104,545,989 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cplx3 T A 9: 57,520,941 (GRCm39) E220V possibly damaging Het
Cracdl T C 1: 37,651,342 (GRCm39) K1175R possibly damaging Het
Dcaf10 T A 4: 45,359,816 (GRCm39) W244R probably damaging Het
Dixdc1 A G 9: 50,595,172 (GRCm39) probably null Het
Dlg4 T A 11: 69,917,752 (GRCm39) Y12N probably damaging Het
Fsd1l T A 4: 53,696,931 (GRCm39) Y442N possibly damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Hcrt C A 11: 100,652,745 (GRCm39) A90S probably damaging Het
Itga6 T A 2: 71,648,873 (GRCm39) V119D probably damaging Het
Klrh1 T C 6: 129,745,140 (GRCm39) N152S probably null Het
Lmtk2 T A 5: 144,112,924 (GRCm39) S1215T possibly damaging Het
Loxl2 G A 14: 69,930,524 (GRCm39) E763K probably benign Het
Mcrip1 T C 11: 120,435,530 (GRCm39) E35G probably damaging Het
Nle1 T A 11: 82,793,879 (GRCm39) I386F probably benign Het
Nqo1 T C 8: 108,119,630 (GRCm39) I8V probably benign Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Pax8 T C 2: 24,330,752 (GRCm39) D227G probably benign Het
Phf14 T C 6: 12,047,845 (GRCm39) C885R probably damaging Het
Rhobtb3 A C 13: 76,059,046 (GRCm39) C251G probably damaging Het
Samd13 C T 3: 146,368,446 (GRCm39) A49T probably damaging Het
Snrpa1 T A 7: 65,713,586 (GRCm39) V101E probably benign Het
Styx A G 14: 45,592,404 (GRCm39) E20G possibly damaging Het
Thoc1 T C 18: 9,984,488 (GRCm39) Y325H probably damaging Het
Tmem163 T A 1: 127,423,477 (GRCm39) T262S possibly damaging Het
Vash1 G C 12: 86,726,952 (GRCm39) R64P probably damaging Het
Vps13b A C 15: 35,572,251 (GRCm39) D956A probably damaging Het
Vrk1 G A 12: 106,024,120 (GRCm39) G199S probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfp870 A T 17: 33,102,334 (GRCm39) S333T probably benign Het
Zranb1 T C 7: 132,551,768 (GRCm39) Y140H probably damaging Het
Zscan4b A G 7: 10,635,789 (GRCm39) probably null 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
R2185:Tsr1 UTSW 11 74,792,906 (GRCm39) missense probably damaging 1.00
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
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'- GGGTTACAGCACCTGTATATTTGAAG -3'
(R):5'- ACAGAGTATGCAGATCCCCTG -3'

Sequencing Primer
(F):5'- AAGGATGGTCCTCCACA -3'
(R):5'- TTCAAGCTAGGGCACAGA -3'
Posted On 2014-10-30