Incidental Mutation 'R6743:Tsr1'
ID 532748
Institutional Source Beutler Lab
Gene Symbol Tsr1
Ensembl Gene ENSMUSG00000038335
Gene Name TSR1 20S rRNA accumulation
Synonyms
MMRRC Submission 044860-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R6743 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 74788906-74800166 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74799177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 786 (V786A)
Ref Sequence ENSEMBL: ENSMUSP00000039027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000123855] [ENSMUST00000128230] [ENSMUST00000128556] [ENSMUST00000138612] [ENSMUST00000153316] [ENSMUST00000155702]
AlphaFold Q5SWD9
Predicted Effect probably benign
Transcript: ENSMUST00000045807
AA Change: V786A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: V786A

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 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 probably benign
Transcript: ENSMUST00000123855
SMART Domains Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 166 1.5e-39 PFAM
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: ENSMUST00000128556
SMART Domains Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 182 2.6e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138612
SMART Domains Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323

DomainStartEndE-ValueType
Pfam:PALP 19 112 4.1e-28 PFAM
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,327,321 (GRCm39) R339C possibly damaging Het
Adamts6 G A 13: 104,565,436 (GRCm39) G721R probably damaging Het
Adnp2 A G 18: 80,171,274 (GRCm39) V1045A probably benign Het
Agbl3 T C 6: 34,823,888 (GRCm39) I856T probably benign Het
Anapc1 T A 2: 128,526,454 (GRCm39) K115* probably null Het
Arc A G 15: 74,543,636 (GRCm39) S196P probably benign Het
Atp10a T C 7: 58,447,562 (GRCm39) I768T possibly damaging Het
Blk C T 14: 63,622,375 (GRCm39) R55H probably benign Het
Ccdc158 T C 5: 92,810,005 (GRCm39) S168G probably benign Het
Cda G T 4: 138,066,253 (GRCm39) T128K probably benign Het
Celsr1 T A 15: 85,791,799 (GRCm39) T2601S probably damaging Het
Dmxl1 T C 18: 50,013,847 (GRCm39) V1545A possibly damaging Het
Dst T A 1: 34,309,971 (GRCm39) N6264K probably damaging Het
Ednra T C 8: 78,401,718 (GRCm39) S191G probably damaging Het
Elk3 A T 10: 93,100,912 (GRCm39) S280T possibly damaging Het
Etnk1 A G 6: 143,126,343 (GRCm39) I63V possibly damaging Het
Fscb A G 12: 64,518,347 (GRCm39) S1040P unknown Het
Gm14295 T G 2: 176,502,420 (GRCm39) C637G probably damaging Het
Gm5114 T C 7: 39,057,997 (GRCm39) T541A probably benign Het
Man2c1 T C 9: 57,042,849 (GRCm39) F240L probably benign Het
Map2 A T 1: 66,454,766 (GRCm39) I1219L probably benign Het
Map3k13 A G 16: 21,711,173 (GRCm39) Y152C probably damaging Het
Morc1 G A 16: 48,322,683 (GRCm39) A327T probably damaging Het
Myo3a A T 2: 22,366,475 (GRCm39) Y553F probably benign Het
Myo9b T A 8: 71,804,803 (GRCm39) probably null Het
Or14j1 A C 17: 38,146,694 (GRCm39) D268A probably damaging Het
Or5b3 C T 19: 13,387,957 (GRCm39) T8I probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pde6a T A 18: 61,397,057 (GRCm39) F634L possibly damaging Het
Pkd1l2 C A 8: 117,757,370 (GRCm39) C1556F probably damaging Het
Prdm5 G A 6: 65,860,635 (GRCm39) V440I probably damaging Het
Rasa2 T C 9: 96,493,493 (GRCm39) T64A probably damaging Het
Sec24b A T 3: 129,834,881 (GRCm39) Y106N probably damaging Het
Sfswap C T 5: 129,627,883 (GRCm39) Q689* probably null Het
Slamf8 C T 1: 172,417,965 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,726 (GRCm39) T28M probably benign Het
Tmt1a3 A G 15: 100,233,123 (GRCm39) K105E probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zmynd10 T C 9: 107,425,079 (GRCm39) I58T 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
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
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
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'- TAGGTAAGAGCCTGGGATTCC -3'
(R):5'- CTTAGCAGAGACATGGACAACTG -3'

Sequencing Primer
(F):5'- AGACTGTGGGCTGTAAGTTCAC -3'
(R):5'- CAGAGACATGGACAACTGAAATAC -3'
Posted On 2018-08-29