Incidental Mutation 'R1452:Tsr1'
ID 161086
Institutional Source Beutler Lab
Gene Symbol Tsr1
Ensembl Gene ENSMUSG00000038335
Gene Name TSR1 20S rRNA accumulation
Synonyms
MMRRC Submission 039507-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R1452 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 74898071-74909342 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74899599 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 171 (D171V)
Ref Sequence ENSEMBL: ENSMUSP00000039027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000057631] [ENSMUST00000081799] [ENSMUST00000128230] [ENSMUST00000153316] [ENSMUST00000155702]
AlphaFold Q5SWD9
Predicted Effect probably benign
Transcript: ENSMUST00000045807
AA Change: D171V

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: D171V

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 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
Meta Mutation Damage Score 0.2999 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T C 1: 93,152,939 Y415C probably damaging Het
2810474O19Rik A T 6: 149,326,632 K392I probably damaging Het
A2m A G 6: 121,678,056 I1446M probably benign Het
Acaca T A 11: 84,295,059 probably benign Het
Adgre4 A T 17: 55,784,996 E85D probably benign Het
Akt3 A T 1: 177,131,067 Y26N possibly damaging Het
Arl15 T C 13: 113,967,783 V132A probably benign Het
Atp6v1h A G 1: 5,098,137 probably benign Het
Atrip T A 9: 109,072,659 D110V probably damaging Het
Bahcc1 T G 11: 120,282,239 probably benign Het
Cd53 C T 3: 106,768,959 G31S probably damaging Het
Cdk14 T C 5: 4,888,927 S404G possibly damaging Het
Cers3 A T 7: 66,783,404 K156N probably damaging Het
Colgalt2 C A 1: 152,504,153 L448M probably damaging Het
Cox15 G T 19: 43,746,905 T141K probably damaging Het
Csnk2a2 C T 8: 95,457,375 probably benign Het
Cyp2b10 A T 7: 25,925,388 probably benign Het
Cyp2c55 A G 19: 39,011,090 Y80C probably damaging Het
Depdc1a A G 3: 159,526,691 Y693C possibly damaging Het
Des T C 1: 75,363,477 S343P probably damaging Het
Dync1i2 T C 2: 71,249,863 probably benign Het
Eif3m T A 2: 105,006,777 Q199L probably damaging Het
Emsy G T 7: 98,600,674 T802K probably damaging Het
Endov A G 11: 119,491,825 T33A probably damaging Het
Epb41l5 G A 1: 119,549,166 T728I probably damaging Het
Fbxo39 A G 11: 72,318,402 I363V probably benign Het
Gm8674 C T 13: 49,900,517 noncoding transcript Het
Gm9733 G T 3: 15,332,152 T24K unknown Het
Il6st T A 13: 112,481,464 N137K possibly damaging Het
Inf2 A G 12: 112,601,344 N136S probably damaging Het
Iqub A T 6: 24,491,559 I376N probably benign Het
Kansl3 A G 1: 36,354,793 probably benign Het
Kbtbd2 A T 6: 56,781,924 H71Q probably damaging Het
Lgals8 G T 13: 12,453,327 Y140* probably null Het
Macf1 T A 4: 123,493,998 I924L probably benign Het
Mcoln2 A T 3: 146,181,814 T329S possibly damaging Het
Mex3d A T 10: 80,381,520 L621Q probably damaging Het
Mut A G 17: 40,937,468 probably benign Het
Ncor1 T C 11: 62,334,631 H1038R probably damaging Het
Neb A G 2: 52,271,297 probably null Het
Ngrn A G 7: 80,264,772 T224A probably benign Het
Nin G A 12: 70,017,650 R2019* probably null Het
Nphp4 C G 4: 152,547,018 Q792E probably damaging Het
Olfr1047 T A 2: 86,228,455 N172I probably damaging Het
Olfr1166 C T 2: 88,124,311 V225I probably benign Het
Olfr140 C T 2: 90,051,671 V218I possibly damaging Het
Olfr373 C T 8: 72,100,176 Q139* probably null Het
Olfr70 C T 4: 43,696,823 V117M probably benign Het
Pde4dip C A 3: 97,724,102 V1164L probably damaging Het
Plppr1 A G 4: 49,301,067 probably benign Het
Pole2 G A 12: 69,207,929 L381F probably benign Het
Ppp2r5e A G 12: 75,469,536 probably benign Het
Prim2 T A 1: 33,630,404 E163D probably benign Het
Prrc2b A T 2: 32,194,985 D296V probably damaging Het
Pter A G 2: 12,978,621 probably benign Het
Robo2 C A 16: 73,961,910 V662L probably damaging Het
Slco1b2 A T 6: 141,672,200 I424F probably benign Het
Snx29 A T 16: 11,631,471 H260L probably damaging Het
Stil A G 4: 115,039,195 N959S probably benign Het
Taar8c A T 10: 24,101,610 D101E probably benign Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trpc6 G A 9: 8,653,147 M573I probably damaging Het
Ube4b T C 4: 149,371,169 T348A probably damaging Het
Vmn1r85 A T 7: 13,084,881 I112N probably damaging Het
Vps36 A G 8: 22,218,210 probably null Het
Wdfy3 G A 5: 101,937,738 A630V possibly damaging Het
Wdsub1 A T 2: 59,876,800 D14E probably null Het
Ylpm1 T C 12: 85,030,383 I1294T possibly damaging Het
Zdhhc17 A G 10: 110,955,075 F378L probably benign 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
IGL03358:Tsr1 APN 11 74903998 missense probably benign 0.13
R0684:Tsr1 UTSW 11 74907941 missense probably damaging 1.00
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 splice site 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
R8392:Tsr1 UTSW 11 74900270 missense probably benign 0.40
R8734:Tsr1 UTSW 11 74903826 missense probably benign
R8767:Tsr1 UTSW 11 74908323 missense probably damaging 0.96
R8904:Tsr1 UTSW 11 74899391 nonsense probably null
R9261:Tsr1 UTSW 11 74908230 missense probably damaging 1.00
R9295:Tsr1 UTSW 11 74908309 missense probably damaging 1.00
R9345:Tsr1 UTSW 11 74899300 missense probably benign 0.03
R9802:Tsr1 UTSW 11 74908399 missense possibly damaging 0.54
X0010:Tsr1 UTSW 11 74903874 missense possibly damaging 0.78
X0026:Tsr1 UTSW 11 74900227 missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGCAAGACCAGGTTAGAGTGTCCG -3'
(R):5'- TCACTGGGAAACGCAACACTGAG -3'

Sequencing Primer
(F):5'- GAGTGTCCGATACTTTTCTCTCATTG -3'
(R):5'- gccgcccaaaagaaactc -3'
Posted On 2014-03-14