Incidental Mutation 'R6555:Lsm3'
ID 522081
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 044680-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R6555 (G1)
Quality Score 217.468
Status 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (40/41)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,468 (GRCm39) I480V probably damaging Het
Akap1 A T 11: 88,735,708 (GRCm39) I351N probably damaging Het
C1qtnf3 A G 15: 10,975,742 (GRCm39) M256V probably damaging Het
Carm1 T A 9: 21,498,258 (GRCm39) C421S probably damaging Het
Celsr2 T C 3: 108,302,235 (GRCm39) D2631G probably damaging Het
Cfap206 A G 4: 34,719,049 (GRCm39) V319A probably damaging Het
Cntnap2 T A 6: 46,736,694 (GRCm39) W707R probably damaging Het
Ctss T A 3: 95,450,340 (GRCm39) L97* probably null Het
Eif2ak4 A T 2: 118,258,350 (GRCm39) N455Y probably damaging Het
Ercc6 G A 14: 32,239,064 (GRCm39) E51K probably benign Het
Gm10318 G A 10: 77,688,855 (GRCm39) probably benign Het
Gp6 C T 7: 4,387,929 (GRCm39) R180Q probably damaging Het
Gtsf1 T C 15: 103,333,902 (GRCm39) I25V probably damaging Het
Igkv1-99 A G 6: 68,519,300 (GRCm39) R85G probably damaging Het
Il36a G A 2: 24,114,611 (GRCm39) probably null Het
Iqsec3 T C 6: 121,361,178 (GRCm39) H935R probably damaging Het
Loxhd1 T C 18: 77,380,965 (GRCm39) V94A possibly damaging Het
Lrp2 T C 2: 69,339,647 (GRCm39) K1088R probably benign Het
Lyst A G 13: 13,823,510 (GRCm39) N1494S probably benign Het
Mta3 C T 17: 84,015,875 (GRCm39) R26W probably damaging Het
Nup88 T C 11: 70,835,006 (GRCm39) R660G possibly damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or4q3 G A 14: 50,583,303 (GRCm39) Q168* probably null Het
Or5d16 T A 2: 87,773,632 (GRCm39) E113D probably damaging Het
Or8b51 C A 9: 38,569,585 (GRCm39) M34I probably benign Het
Pcdhga10 A G 18: 37,882,488 (GRCm39) T750A probably damaging Het
Plxnb1 A G 9: 108,937,473 (GRCm39) probably null Het
Ppip5k1 T C 2: 121,168,093 (GRCm39) E720G probably damaging Het
Pramel27 A G 4: 143,578,140 (GRCm39) I133M possibly damaging Het
Ptprn2 T C 12: 117,190,820 (GRCm39) Y786H probably damaging Het
Safb2 A G 17: 56,874,600 (GRCm39) V614A probably damaging Het
Safb2 A G 17: 56,889,982 (GRCm39) probably null Het
Selp C T 1: 163,969,171 (GRCm39) probably null Het
Slc16a10 T C 10: 39,956,774 (GRCm39) I122V probably benign Het
Slc22a22 G A 15: 57,122,527 (GRCm39) T131M probably benign Het
Trmt2a A T 16: 18,071,067 (GRCm39) I574F probably benign Het
Tsen54 C T 11: 115,711,519 (GRCm39) T156I probably benign Het
Vps13b A G 15: 35,846,993 (GRCm39) N2592S probably damaging Het
Wdr64 G A 1: 175,547,856 (GRCm39) R131H 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
R6588: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'- GGGTGTAAGTATTGAACCTGTTAC -3'
(R):5'- ACATGACACATTCGTAGAGACC -3'

Sequencing Primer
(F):5'- TGAACCTGTTACTTAAAATCCACTTG -3'
(R):5'- AGGGCACTGTCAAACTCTTG -3'
Posted On 2018-06-06