Incidental Mutation 'R4949:Lsm1'
ID 383670
Institutional Source Beutler Lab
Gene Symbol Lsm1
Ensembl Gene ENSMUSG00000037296
Gene Name LSM1 homolog, mRNA degradation associated
Synonyms U6 small nuclear RNA associated, 2810025O06Rik
MMRRC Submission 042546-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R4949 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 26275326-26294003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26292065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 114 (V114A)
Ref Sequence ENSEMBL: ENSMUSP00000041022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038421] [ENSMUST00000210565] [ENSMUST00000211168] [ENSMUST00000211670]
AlphaFold Q8VC85
Predicted Effect probably benign
Transcript: ENSMUST00000038421
AA Change: V114A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041022
Gene: ENSMUSG00000037296
AA Change: V114A

DomainStartEndE-ValueType
Sm 8 76 1.53e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210565
Predicted Effect probably benign
Transcript: ENSMUST00000211168
Predicted Effect probably benign
Transcript: ENSMUST00000211670
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,769,450 (GRCm39) V692A probably benign Het
Bcl2l13 G T 6: 120,864,191 (GRCm39) G382W probably damaging Het
Cdhr5 T A 7: 140,852,557 (GRCm39) N353I probably damaging Het
Chil4 A G 3: 106,113,408 (GRCm39) S170P possibly damaging Het
Clp1 A C 2: 84,554,086 (GRCm39) M361R possibly damaging Het
Cylc2 A G 4: 51,229,804 (GRCm39) K382R unknown Het
Dsg2 T A 18: 20,723,241 (GRCm39) D422E probably damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Gm14295 A C 2: 176,501,469 (GRCm39) T320P probably damaging Het
Ido2 T G 8: 25,023,970 (GRCm39) probably null Het
Ift140 T A 17: 25,313,639 (GRCm39) S1357T probably benign Het
Insr T G 8: 3,235,059 (GRCm39) E145A probably benign Het
Itpripl1 A G 2: 126,983,327 (GRCm39) M265T probably benign Het
Kcnb1 G T 2: 166,947,521 (GRCm39) N442K probably damaging Het
Kifc5b C A 17: 27,144,488 (GRCm39) R536S probably damaging Het
Klf6 A T 13: 5,914,947 (GRCm39) S129C probably benign Het
Lpin2 C G 17: 71,538,334 (GRCm39) P327A probably damaging Het
Map7d1 C T 4: 126,128,846 (GRCm39) W218* probably null Het
N4bp2 T A 5: 65,979,142 (GRCm39) probably null Het
Nt5el T A 13: 105,246,214 (GRCm39) S258R probably damaging Het
Rheb A T 5: 25,008,729 (GRCm39) I163K possibly damaging Het
Rph3a T C 5: 121,101,897 (GRCm39) D113G probably damaging Het
Scn8a A G 15: 100,927,663 (GRCm39) N1381D probably damaging Het
Sdsl T A 5: 120,597,870 (GRCm39) N208Y possibly damaging Het
Serpinb9e A G 13: 33,435,591 (GRCm39) N8S possibly damaging Het
Sox18 G A 2: 181,313,017 (GRCm39) Q100* probably null Het
Taar8b C T 10: 23,967,825 (GRCm39) C123Y probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tes C A 6: 17,100,359 (GRCm39) H331N probably benign Het
Tmbim1 T G 1: 74,334,524 (GRCm39) D12A probably damaging Het
Tmprss4 T C 9: 45,086,841 (GRCm39) I307V possibly damaging Het
Ttll1 A T 15: 83,386,374 (GRCm39) M77K probably null Het
Ttpal G A 2: 163,455,671 (GRCm39) R220Q probably damaging Het
Vmn1r230 T A 17: 21,067,625 (GRCm39) H271Q probably benign Het
Vmn2r32 A G 7: 7,467,083 (GRCm39) I815T probably benign Het
Other mutations in Lsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Lsm1 APN 8 26,283,821 (GRCm39) critical splice donor site probably null
IGL02450:Lsm1 APN 8 26,283,806 (GRCm39) missense possibly damaging 0.86
R2314:Lsm1 UTSW 8 26,275,712 (GRCm39) missense possibly damaging 0.80
R4676:Lsm1 UTSW 8 26,283,717 (GRCm39) missense probably damaging 1.00
R4690:Lsm1 UTSW 8 26,283,708 (GRCm39) missense probably damaging 1.00
R6813:Lsm1 UTSW 8 26,283,721 (GRCm39) missense probably benign 0.02
R7514:Lsm1 UTSW 8 26,282,237 (GRCm39) missense probably damaging 1.00
R8334:Lsm1 UTSW 8 26,292,047 (GRCm39) missense probably benign 0.11
R9520:Lsm1 UTSW 8 26,283,744 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- TGGCCTTACCACAATTGTGAAAG -3'
(R):5'- TGTTGGCATCCATGAAAGAATGAG -3'

Sequencing Primer
(F):5'- CAAGCTACATACTGGAATCTGCTGTC -3'
(R):5'- GAATGAGATCACTTTTCAGCGTG -3'
Posted On 2016-04-27