Incidental Mutation 'R6588:Lsm3'
ID 527417
Institutional Source Beutler Lab
Gene Symbol Lsm3
Ensembl Gene ENSMUSG00000034192
Gene Name LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated
Synonyms SMX4, USS2, 6030401D18Rik, 2610005D18Rik, 1010001J12Rik
MMRRC Submission 044712-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R6588 (G1)
Quality Score 217.468
Status Not validated
Chromosome 6
Chromosomal Location 91493017-91499602 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GATATATA to GATATATATA at 91496617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000040607] [ENSMUST00000206947] [ENSMUST00000206476]
AlphaFold P62311
Predicted Effect probably benign
Transcript: ENSMUST00000032182
SMART Domains Protein: ENSMUSP00000032182
Gene: ENSMUSG00000030094

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
low complexity region 106 115 N/A INTRINSIC
low complexity region 118 142 N/A INTRINSIC
low complexity region 299 315 N/A INTRINSIC
low complexity region 335 352 N/A INTRINSIC
low complexity region 371 387 N/A INTRINSIC
low complexity region 425 439 N/A INTRINSIC
Pfam:Rad4 485 619 6.4e-26 PFAM
BHD_1 623 675 4.09e-25 SMART
BHD_2 677 737 4.96e-24 SMART
BHD_3 744 818 4.83e-45 SMART
low complexity region 826 835 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000040607
SMART Domains Protein: ENSMUSP00000044178
Gene: ENSMUSG00000034192

DomainStartEndE-ValueType
Sm 19 97 3.79e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126253
Predicted Effect probably benign
Transcript: ENSMUST00000150279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205609
Predicted Effect probably null
Transcript: ENSMUST00000206947
Predicted Effect probably benign
Transcript: ENSMUST00000206476
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,340,766 (GRCm39) S132P probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Homo
Clcn3 T C 8: 61,367,861 (GRCm39) I763V probably benign Het
Cpsf1 A G 15: 76,481,022 (GRCm39) Y1254H probably damaging Het
Erc1 C T 6: 119,552,687 (GRCm39) A1088T possibly damaging Het
Fhl4 A G 10: 84,933,971 (GRCm39) V270A possibly damaging Het
Ghr T C 15: 3,349,750 (GRCm39) E476G probably benign Het
Ighv1-84 T A 12: 115,944,371 (GRCm39) Q101L probably benign Het
Itfg1 T C 8: 86,462,759 (GRCm39) I455V probably benign Het
Kitl T A 10: 99,899,954 (GRCm39) N86K probably damaging Het
Kmt2c C T 5: 25,528,787 (GRCm39) G1614E probably damaging Het
Lrrd1 A G 5: 3,901,386 (GRCm39) S564G probably benign Het
Macroh2a1 C T 13: 56,252,302 (GRCm39) G97D possibly damaging Het
Mms19 C T 19: 41,954,715 (GRCm39) R68Q probably damaging Het
Or10aa1 G T 1: 173,869,844 (GRCm39) M109I probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or7e173 G T 9: 19,939,162 (GRCm39) P24Q probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Zfp64 A T 2: 168,768,827 (GRCm39) C262S probably damaging Het
Other mutations in Lsm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02313:Lsm3 APN 6 91,493,070 (GRCm39) splice site probably benign
R2172:Lsm3 UTSW 6 91,499,254 (GRCm39) missense possibly damaging 0.51
R6552:Lsm3 UTSW 6 91,496,617 (GRCm39) frame shift probably null
R6553:Lsm3 UTSW 6 91,496,617 (GRCm39) frame shift probably null
R6555:Lsm3 UTSW 6 91,496,617 (GRCm39) frame shift probably null
R6689:Lsm3 UTSW 6 91,496,617 (GRCm39) frame shift probably null
R8022:Lsm3 UTSW 6 91,496,543 (GRCm39) missense probably benign 0.10
R8859:Lsm3 UTSW 6 91,499,252 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGGTGTAAGTATTGAACCTGTTAC -3'
(R):5'- ACATGACACATTCGTAGAGACC -3'

Sequencing Primer
(F):5'- TGAACCTGTTACTTAAAATCCACTTG -3'
(R):5'- AGGGCACTGTCAAACTCTTG -3'
Posted On 2018-07-23