Incidental Mutation 'R6811:Lsm5'
ID 533801
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 045018-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R6811 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 56678048-56681684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56679127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 34 (I34T)
Ref Sequence ENSEMBL: ENSMUSP00000144811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170382] [ENSMUST00000176595] [ENSMUST00000177144] [ENSMUST00000203958]
AlphaFold P62322
Predicted Effect probably benign
Transcript: ENSMUST00000170382
AA Change: I66T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000126565
Gene: ENSMUSG00000091625
AA Change: I66T

DomainStartEndE-ValueType
Sm 16 84 5.65e-20 SMART
Predicted Effect silent
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: I34T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144811
Gene: ENSMUSG00000091625
AA Change: I34T

DomainStartEndE-ValueType
Pfam:LSM 15 52 9.3e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,401,210 (GRCm39) S69P probably damaging Het
Alkbh7 G T 17: 57,304,392 (GRCm39) R10L probably benign Het
Ano3 T C 2: 110,711,212 (GRCm39) E84G probably benign Het
Asxl3 A G 18: 22,655,968 (GRCm39) E1326G possibly damaging Het
Atrnl1 T G 19: 57,643,393 (GRCm39) M427R probably damaging Het
Cenpf T C 1: 189,386,739 (GRCm39) E1847G probably benign Het
Csf1r T C 18: 61,252,125 (GRCm39) Y536H probably damaging Het
Dnm3 T C 1: 162,148,652 (GRCm39) K240E probably damaging Het
Dsc1 T G 18: 20,222,711 (GRCm39) E587A probably benign Het
Gm19410 C A 8: 36,239,733 (GRCm39) A143E probably damaging Het
Gm19965 G T 1: 116,731,809 (GRCm39) L38F probably damaging Het
Helz T C 11: 107,510,144 (GRCm39) probably null Het
Herc2 C T 7: 55,763,181 (GRCm39) R929* probably null Het
Iqcn T C 8: 71,169,422 (GRCm39) S1171P probably benign Het
Krt31 A G 11: 99,939,242 (GRCm39) L225P probably damaging Het
Lrp1b T C 2: 40,605,512 (GRCm39) probably null Het
Lrp1b A G 2: 41,339,206 (GRCm39) V765A probably benign Het
Ly6g6c T C 17: 35,288,386 (GRCm39) L86P probably damaging Het
Meak7 A T 8: 120,495,029 (GRCm39) I243N possibly damaging Het
Megf11 A G 9: 64,451,923 (GRCm39) T116A probably damaging Het
Megf6 T C 4: 154,336,618 (GRCm39) C190R probably damaging Het
Mroh9 A G 1: 162,873,610 (GRCm39) V515A possibly damaging Het
Mtbp C A 15: 55,469,942 (GRCm39) probably null Het
Myo9b T A 8: 71,809,222 (GRCm39) F1810L probably damaging Het
Nacad T G 11: 6,549,400 (GRCm39) K180Q possibly damaging Het
Ncf2 G A 1: 152,711,791 (GRCm39) V502I probably benign Het
Npsr1 T A 9: 24,046,105 (GRCm39) C75S probably benign Het
Oog3 T C 4: 143,886,152 (GRCm39) T149A probably benign Het
Pank1 T A 19: 34,818,422 (GRCm39) Q39L probably benign Het
Pdx1 T C 5: 147,211,474 (GRCm39) S232P possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pirb A T 7: 3,722,641 (GRCm39) V117E possibly damaging Het
Ppl G A 16: 4,907,008 (GRCm39) L1096F probably damaging Het
Rev3l T A 10: 39,706,917 (GRCm39) Y2223* probably null Het
Slc16a4 A G 3: 107,206,233 (GRCm39) Y101C probably benign Het
Slc17a3 A T 13: 24,039,924 (GRCm39) I321F possibly damaging Het
Sufu T A 19: 46,438,317 (GRCm39) D168E probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Vmn1r237 T G 17: 21,534,648 (GRCm39) S124A probably benign Het
Vmn2r60 T A 7: 41,844,310 (GRCm39) C558S probably damaging Het
Vwa5b1 G A 4: 138,319,414 (GRCm39) T414I probably benign Het
Zbtb47 T C 9: 121,595,595 (GRCm39) S573P probably damaging Het
Zfp971 T G 2: 177,675,674 (GRCm39) C424W possibly damaging Het
Other mutations in Lsm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0526:Lsm5 UTSW 6 56,680,310 (GRCm39) missense probably damaging 1.00
R2366:Lsm5 UTSW 6 56,680,003 (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
R9326:Lsm5 UTSW 6 56,681,616 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TGAGGCACAGATCACCAAG -3'
(R):5'- TGCGTTCACATTGAATCATGTG -3'

Sequencing Primer
(F):5'- GATCACCAAGGCTCCCTTC -3'
(R):5'- CAGCTTTGTCACTAGGGATTGAACC -3'
Posted On 2018-09-12