Incidental Mutation 'IGL02313:Lsm3'
ID 287915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsm3
Ensembl Gene ENSMUSG00000034192
Gene Name LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated
Synonyms SMX4, USS2, 6030401D18Rik, 2610005D18Rik, 1010001J12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL02313
Quality Score
Status
Chromosome 6
Chromosomal Location 91493017-91499602 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 91493070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000040607] [ENSMUST00000206476] [ENSMUST00000206947]
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 benign
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: ENSMUST00000205609
Predicted Effect probably benign
Transcript: ENSMUST00000206476
Predicted Effect probably benign
Transcript: ENSMUST00000206947
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,653,571 (GRCm39) N136K probably damaging Het
Aph1b A T 9: 66,697,955 (GRCm39) probably benign Het
Atf7ip A G 6: 136,583,718 (GRCm39) K1250E probably damaging Het
Atp8b2 T C 3: 89,857,160 (GRCm39) N400S probably damaging Het
Brca2 C A 5: 150,462,126 (GRCm39) S630Y probably damaging Het
Chd6 T A 2: 160,807,595 (GRCm39) E1873V probably damaging Het
Chrna10 T C 7: 101,761,236 (GRCm39) probably benign Het
Col6a3 A G 1: 90,739,328 (GRCm39) L907P probably damaging Het
Cxcr6 A G 9: 123,639,770 (GRCm39) N264S probably damaging Het
Cyria A G 12: 12,414,752 (GRCm39) T248A possibly damaging Het
Dgkg A G 16: 22,388,980 (GRCm39) probably benign Het
Dpysl2 T G 14: 67,061,839 (GRCm39) M256L probably benign Het
Dsp G T 13: 38,380,499 (GRCm39) E1816* probably null Het
Fam13b T C 18: 34,587,709 (GRCm39) K530E probably damaging Het
Fastk T C 5: 24,648,090 (GRCm39) H242R probably damaging Het
Fbxw28 A T 9: 109,166,420 (GRCm39) H145Q possibly damaging Het
Heatr6 T C 11: 83,669,718 (GRCm39) L910P probably damaging Het
Hmcn2 A G 2: 31,343,617 (GRCm39) T4642A possibly damaging Het
Hspg2 A G 4: 137,235,700 (GRCm39) T167A probably benign Het
Igsf10 A G 3: 59,238,111 (GRCm39) L690P probably benign Het
Klhdc10 G A 6: 30,439,865 (GRCm39) probably null Het
Krt31 A G 11: 99,939,222 (GRCm39) Y232H probably damaging Het
Mfn2 T A 4: 147,969,947 (GRCm39) I375F probably damaging Het
Mfrp A T 9: 44,014,171 (GRCm39) I180F probably damaging Het
Msh3 T C 13: 92,485,820 (GRCm39) E168G possibly damaging Het
Naa16 A T 14: 79,622,108 (GRCm39) V77D probably damaging Het
Nav2 T C 7: 49,208,521 (GRCm39) S1570P probably damaging Het
Niban3 A G 8: 72,055,504 (GRCm39) R305G possibly damaging Het
Numa1 C T 7: 101,649,439 (GRCm39) R1057* probably null Het
Nup210l G A 3: 90,030,099 (GRCm39) A271T probably damaging Het
Ogdh T C 11: 6,305,400 (GRCm39) V965A probably damaging Het
Or10h28 C A 17: 33,488,639 (GRCm39) Q314K probably benign Het
Or4m1 A T 14: 50,557,473 (GRCm39) V273E probably damaging Het
Or6c219 A G 10: 129,781,772 (GRCm39) L53P probably damaging Het
Or7g21 A T 9: 19,032,671 (GRCm39) N140I probably damaging Het
Or8b51 T A 9: 38,569,362 (GRCm39) I109F probably damaging Het
Pdp2 A T 8: 105,321,531 (GRCm39) Q460L probably benign Het
Pex5l T C 3: 33,047,141 (GRCm39) T270A probably benign Het
Pkp4 C T 2: 59,140,598 (GRCm39) Q435* probably null Het
Prss32 G A 17: 24,075,096 (GRCm39) V149M probably benign Het
Riox2 C A 16: 59,309,780 (GRCm39) P378Q probably benign Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rsph4a T A 10: 33,781,521 (GRCm39) S124T possibly damaging Het
Sdccag8 G A 1: 176,652,321 (GRCm39) R24H possibly damaging Het
Slc22a1 C A 17: 12,894,387 (GRCm39) G54* probably null Het
Slc24a5 C T 2: 124,927,567 (GRCm39) probably benign Het
Tex101 C T 7: 24,367,750 (GRCm39) V201M probably damaging Het
Tmprss7 T C 16: 45,501,956 (GRCm39) Y223C probably damaging Het
Trpc4ap T C 2: 155,492,388 (GRCm39) E382G probably damaging Het
Uggt1 A T 1: 36,223,565 (GRCm39) Y575N probably damaging Het
Vmn2r70 T C 7: 85,214,376 (GRCm39) I259V probably damaging Het
Xpo1 T A 11: 23,227,065 (GRCm39) N131K probably damaging Het
Zfp579 C T 7: 4,997,432 (GRCm39) V160M probably benign Het
Zfp697 A G 3: 98,332,766 (GRCm39) D64G probably benign Het
Zfp974 T C 7: 27,611,678 (GRCm39) T16A possibly damaging Het
Other mutations in Lsm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16