Incidental Mutation 'R2314:Lsm1'
ID 245415
Institutional Source Beutler Lab
Gene Symbol Lsm1
Ensembl Gene ENSMUSG00000037296
Gene Name LSM1 homolog, mRNA degradation associated
Synonyms U6 small nuclear RNA associated, 2810025O06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R2314 (G1)
Quality Score 167
Status Not validated
Chromosome 8
Chromosomal Location 26275326-26294003 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 26275712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 5 (P5S)
Ref Sequence ENSEMBL: ENSMUSP00000041022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038421] [ENSMUST00000038498] [ENSMUST00000211168] [ENSMUST00000211670]
AlphaFold Q8VC85
Predicted Effect possibly damaging
Transcript: ENSMUST00000038421
AA Change: P5S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041022
Gene: ENSMUSG00000037296
AA Change: P5S

DomainStartEndE-ValueType
Sm 8 76 1.53e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038498
SMART Domains Protein: ENSMUSP00000044725
Gene: ENSMUSG00000037316

DomainStartEndE-ValueType
low complexity region 5 49 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
low complexity region 131 146 N/A INTRINSIC
low complexity region 255 268 N/A INTRINSIC
low complexity region 276 301 N/A INTRINSIC
BAG 379 456 3.66e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210647
Predicted Effect unknown
Transcript: ENSMUST00000211168
AA Change: P5S
Predicted Effect possibly damaging
Transcript: ENSMUST00000211670
AA Change: P5S

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,322 (GRCm39) S39P probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Anxa6 T A 11: 54,902,561 (GRCm39) I58F probably damaging Het
Ccdc30 T A 4: 119,181,763 (GRCm39) K582* probably null Het
Cebpz A G 17: 79,227,976 (GRCm39) probably null Het
Clstn3 T A 6: 124,427,676 (GRCm39) D473V probably benign Het
Cry1 A T 10: 84,969,175 (GRCm39) C550S probably benign Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dolk G T 2: 30,175,497 (GRCm39) L183M probably damaging Het
Dpys T C 15: 39,691,486 (GRCm39) T279A possibly damaging Het
Drd4 T C 7: 140,873,854 (GRCm39) Y140H probably damaging Het
Duox1 C A 2: 122,164,211 (GRCm39) C890* probably null Het
Epha2 T A 4: 141,046,325 (GRCm39) V508E probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fahd1 A T 17: 25,068,570 (GRCm39) I169N probably damaging Het
Fgfr1 C T 8: 26,060,909 (GRCm39) S527F probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Gm21834 A T 17: 58,049,210 (GRCm39) V2E possibly damaging Het
Gm7853 A T 14: 35,811,621 (GRCm39) noncoding transcript Het
Igf2r T A 17: 12,934,830 (GRCm39) H713L probably benign Het
Iqgap3 T C 3: 88,023,338 (GRCm39) V543A probably benign Het
Kcnq5 T A 1: 21,549,595 (GRCm39) probably null Het
Marchf1 T C 8: 66,574,442 (GRCm39) M1T probably null Het
Myocd T C 11: 65,091,633 (GRCm39) H103R probably damaging Het
Myom2 C T 8: 15,113,927 (GRCm39) T25I probably damaging Het
Nck1 T C 9: 100,380,003 (GRCm39) K83E probably damaging Het
Nid2 A G 14: 19,839,829 (GRCm39) D806G probably benign Het
Onecut2 G T 18: 64,474,268 (GRCm39) R254L probably damaging Het
Or51k1 T A 7: 103,661,436 (GRCm39) M158L probably benign Het
Plxna1 A C 6: 89,301,298 (GRCm39) L1534R probably damaging Het
Polb C A 8: 23,130,018 (GRCm39) A185S possibly damaging Het
Pou3f3 T C 1: 42,737,651 (GRCm39) V449A probably damaging Het
Pskh1 C T 8: 106,640,145 (GRCm39) T275I probably damaging Het
Rab18 C A 18: 6,788,516 (GRCm39) A161D probably damaging Het
Rrp8 T C 7: 105,384,011 (GRCm39) R164G probably benign Het
Sacs T A 14: 61,445,208 (GRCm39) I2418K probably benign Het
Scrn1 T C 6: 54,502,631 (GRCm39) E136G probably benign Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slitrk6 C T 14: 110,989,387 (GRCm39) A107T probably damaging Het
Spata31e2 T C 1: 26,723,783 (GRCm39) S466G probably benign Het
Tktl2 T A 8: 66,965,795 (GRCm39) F451Y probably damaging Het
Tnks1bp1 G A 2: 84,889,259 (GRCm39) V529M probably benign Het
Trps1 T C 15: 50,524,742 (GRCm39) K874E probably damaging Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Ttn A G 2: 76,596,368 (GRCm39) Y20182H probably damaging Het
Ufc1 A T 1: 171,116,821 (GRCm39) C116S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zfp809 A G 9: 22,149,976 (GRCm39) K158E possibly damaging Het
Zfp81 A G 17: 33,553,597 (GRCm39) Y406H probably damaging 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
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
R4949:Lsm1 UTSW 8 26,292,065 (GRCm39) missense probably benign
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'- TTCACTGCACTGACTGGAGG -3'
(R):5'- TTACCCGCTCAAGGACAGAGAAG -3'

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