Incidental Mutation 'R2366:Lsm5'
ID 246331
Institutional Source Beutler Lab
Gene Symbol Lsm5
Ensembl Gene ENSMUSG00000091625
Gene Name LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
Synonyms 2010208O10Rik, 2310034K10Rik
MMRRC Submission 040347-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R2366 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 56678048-56681684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56680003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
Ref Sequence ENSEMBL: ENSMUSP00000126565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170382] [ENSMUST00000176595] [ENSMUST00000177144] [ENSMUST00000203958]
AlphaFold P62322
Predicted Effect probably damaging
Transcript: ENSMUST00000170382
AA Change: D53G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126565
Gene: ENSMUSG00000091625
AA Change: D53G

DomainStartEndE-ValueType
Sm 16 84 5.65e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175865
Predicted Effect probably benign
Transcript: ENSMUST00000176595
SMART Domains Protein: ENSMUSP00000145140
Gene: ENSMUSG00000091625

DomainStartEndE-ValueType
Pfam:LSM 16 58 1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177144
Predicted Effect possibly damaging
Transcript: ENSMUST00000203958
AA Change: D21G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144811
Gene: ENSMUSG00000091625
AA Change: D21G

DomainStartEndE-ValueType
Pfam:LSM 15 52 9.3e-9 PFAM
Meta Mutation Damage Score 0.9292 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G A 7: 98,192,949 (GRCm39) noncoding transcript Het
Adamts5 C T 16: 85,659,646 (GRCm39) G882D probably damaging Het
Arl6ip6 T C 2: 53,082,379 (GRCm39) V82A probably benign Het
Brd10 A T 19: 29,731,035 (GRCm39) I726N probably damaging Het
Cd38 T G 5: 44,060,932 (GRCm39) probably benign Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col6a6 C A 9: 105,632,893 (GRCm39) G1457V probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Cyp2d12 T A 15: 82,439,355 (GRCm39) L3Q probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Drc1 A G 5: 30,523,894 (GRCm39) *754W probably null Het
Erbin G A 13: 103,981,417 (GRCm39) H503Y probably damaging Het
F3 G A 3: 121,526,194 (GRCm39) probably null Het
Gm10033 A T 8: 69,826,232 (GRCm39) M112K unknown Het
Gps1 A C 11: 120,678,945 (GRCm39) I404L probably damaging Het
Hc T C 2: 34,903,648 (GRCm39) N1002S probably benign Het
Impg2 T C 16: 56,080,236 (GRCm39) I571T probably benign Het
Knop1 C A 7: 118,451,751 (GRCm39) V323F possibly damaging Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lzts1 T C 8: 69,593,257 (GRCm39) probably null Het
Matr3 A T 18: 35,721,448 (GRCm39) N473I probably damaging Het
Med1 A G 11: 98,052,008 (GRCm39) V452A probably damaging Het
Napsa T A 7: 44,231,909 (GRCm39) D44E probably damaging Het
Nbeal1 T C 1: 60,290,511 (GRCm39) F1036S probably damaging Het
Ncapg2 G A 12: 116,384,349 (GRCm39) W270* probably null Het
Nherf1 G A 11: 115,054,454 (GRCm39) V35M probably benign Het
Or5af1 C A 11: 58,722,039 (GRCm39) Q20K probably benign Het
Pik3ca G A 3: 32,516,943 (GRCm39) W1057* probably null Het
Pkd1l2 A T 8: 117,770,056 (GRCm39) D1133E probably benign Het
Pramel39-ps T C 5: 94,450,972 (GRCm39) K385E probably benign Het
Prox1 T A 1: 189,894,079 (GRCm39) E122V probably damaging Het
Rest C A 5: 77,416,034 (GRCm39) H83N probably benign Het
Rundc3a A G 11: 102,288,491 (GRCm39) I68V probably damaging Het
Stx6 A T 1: 155,077,706 (GRCm39) I238L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqln3 C A 7: 103,790,256 (GRCm39) Q611H probably damaging Het
Usp6nl T A 2: 6,445,770 (GRCm39) H559Q probably benign Het
Vipr1 T G 9: 121,494,250 (GRCm39) V277G probably benign Het
Zfp101 A T 17: 33,599,972 (GRCm39) C595S probably benign Het
Zfp398 C T 6: 47,840,143 (GRCm39) T124I possibly damaging Het
Other mutations in Lsm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0526:Lsm5 UTSW 6 56,680,310 (GRCm39) missense probably damaging 1.00
R4959:Lsm5 UTSW 6 56,680,309 (GRCm39) missense probably damaging 0.99
R4973:Lsm5 UTSW 6 56,680,309 (GRCm39) missense probably damaging 0.99
R6811:Lsm5 UTSW 6 56,679,127 (GRCm39) missense possibly damaging 0.52
R9326:Lsm5 UTSW 6 56,681,616 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TCACCATAAAGCTTGTTCACAC -3'
(R):5'- CCAGGAACTTGGTAGTATTTTAAGAGG -3'

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