Incidental Mutation 'IGL02450:Lsm1'
ID294117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsm1
Ensembl Gene ENSMUSG00000037296
Gene NameLSM1 homolog, mRNA degradation associated
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL02450
Quality Score
Status
Chromosome8
Chromosomal Location25785288-25803975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 25793778 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 73 (L73I)
Ref Sequence ENSEMBL: ENSMUSP00000041022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038421] [ENSMUST00000211168] [ENSMUST00000211670]
Predicted Effect possibly damaging
Transcript: ENSMUST00000038421
AA Change: L73I

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041022
Gene: ENSMUSG00000037296
AA Change: L73I

DomainStartEndE-ValueType
Sm 8 76 1.53e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210647
Predicted Effect probably benign
Transcript: ENSMUST00000211168
Predicted Effect probably benign
Transcript: ENSMUST00000211670
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,914,762 *781W probably null Het
Adamts16 C A 13: 70,836,300 R81S probably damaging Het
Aldh1l1 A G 6: 90,569,873 D386G probably benign Het
Anxa6 G A 11: 54,994,941 R393W probably damaging Het
Bdnf G A 2: 109,723,604 V108I possibly damaging Het
Bpgm C T 6: 34,487,464 R39W probably damaging Het
Cd101 T C 3: 100,993,738 E1006G probably damaging Het
Cd109 A T 9: 78,695,850 E972V possibly damaging Het
Cdhr3 T A 12: 33,082,225 Q133L probably benign Het
Cdk5r1 C T 11: 80,477,840 A111V probably benign Het
Cnga4 A T 7: 105,405,748 I77F probably damaging Het
Egfem1 G A 3: 29,657,268 probably null Het
Fam205c A G 4: 42,874,127 S14P probably benign Het
Fbxl21 T A 13: 56,526,953 V39D possibly damaging Het
Gimap6 T C 6: 48,704,417 I94M probably benign Het
Glis1 T C 4: 107,627,529 V407A probably benign Het
Gm5784 C T 12: 19,387,969 noncoding transcript Het
Gm9839 A T 1: 32,520,883 probably benign Het
Heatr5a T A 12: 51,945,430 M566L probably benign Het
Jph1 G A 1: 17,003,977 P606S possibly damaging Het
Jup C T 11: 100,378,357 C410Y probably damaging Het
Kif23 A G 9: 61,923,957 M777T probably benign Het
Lifr G T 15: 7,190,765 D959Y probably damaging Het
Maneal G A 4: 124,857,135 A276V probably benign Het
Myh4 A G 11: 67,251,809 D932G probably damaging Het
Nipbl C T 15: 8,343,574 V1063M probably damaging Het
Nlrx1 A G 9: 44,253,501 V882A probably benign Het
Obox6 A G 7: 15,833,713 C270R probably damaging Het
Olfr525 A G 7: 140,323,227 H176R possibly damaging Het
Pard3b A G 1: 62,532,676 I925V possibly damaging Het
Pdhx A G 2: 103,042,249 S163P probably benign Het
Pdzrn3 T C 6: 101,354,500 D271G probably damaging Het
Plec A G 15: 76,191,315 I399T probably damaging Het
Pthlh T G 6: 147,257,168 D98A possibly damaging Het
Spock3 T A 8: 63,245,215 probably null Het
Tgtp2 C T 11: 49,059,490 G85D probably benign Het
Tmem94 A G 11: 115,793,071 D739G probably damaging Het
Washc5 G A 15: 59,332,317 R706* probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan20 G T 4: 128,586,657 D680E probably damaging Het
Other mutations in Lsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Lsm1 APN 8 25793793 critical splice donor site probably null
R2314:Lsm1 UTSW 8 25785684 missense possibly damaging 0.80
R4676:Lsm1 UTSW 8 25793689 missense probably damaging 1.00
R4690:Lsm1 UTSW 8 25793680 missense probably damaging 1.00
R4949:Lsm1 UTSW 8 25802037 missense probably benign
R6813:Lsm1 UTSW 8 25793693 missense probably benign 0.02
R7514:Lsm1 UTSW 8 25792209 missense probably damaging 1.00
R8334:Lsm1 UTSW 8 25802019 missense probably benign 0.11
Posted On2015-04-16