Incidental Mutation 'R6345:Lsm8'
ID 514103
Institutional Source Beutler Lab
Gene Symbol Lsm8
Ensembl Gene ENSMUSG00000044155
Gene Name LSM8 homolog, U6 small nuclear RNA associated
Synonyms Lsm8, 2010003I05Rik
MMRRC Submission 044499-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R6345 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 18848634-18854051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18853644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 86 (D86G)
Ref Sequence ENSEMBL: ENSMUSP00000144884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056398] [ENSMUST00000201141]
AlphaFold Q6ZWM4
Predicted Effect probably benign
Transcript: ENSMUST00000056398
AA Change: D82G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000057238
Gene: ENSMUSG00000044155
AA Change: D82G

DomainStartEndE-ValueType
Sm 3 72 2.83e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136982
Predicted Effect probably damaging
Transcript: ENSMUST00000201141
AA Change: D86G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144884
Gene: ENSMUSG00000044155
AA Change: D86G

DomainStartEndE-ValueType
Sm 8 76 1.3e-10 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency 100% (61/61)
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 like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,061,913 (GRCm39) I121T probably benign Het
4921524L21Rik T A 18: 6,626,399 (GRCm39) M137K possibly damaging Het
Angpt4 C A 2: 151,771,354 (GRCm39) N223K probably benign Het
Ankrd6 T C 4: 32,810,266 (GRCm39) R437G probably damaging Het
Atp9a C T 2: 168,518,093 (GRCm39) S264N probably damaging Het
AY358078 A C 14: 52,063,749 (GRCm39) Y465S probably damaging Het
Bin3 G A 14: 70,374,676 (GRCm39) R235Q probably benign Het
Bsn G A 9: 107,984,554 (GRCm39) P3167S unknown Het
Camk2g G A 14: 20,787,443 (GRCm39) R274C probably damaging Het
Ccdc61 A T 7: 18,643,914 (GRCm39) probably null Het
Ccnjl A T 11: 43,476,165 (GRCm39) T263S probably benign Het
Col17a1 G T 19: 47,641,818 (GRCm39) P944T possibly damaging Het
Cyp2c39 A T 19: 39,501,615 (GRCm39) probably null Het
Cyp2c39 G T 19: 39,501,616 (GRCm39) probably null Het
Cyp4a32 T C 4: 115,459,560 (GRCm39) V98A possibly damaging Het
Dnah9 A G 11: 65,928,519 (GRCm39) V2050A probably damaging Het
F5 A G 1: 164,019,520 (GRCm39) N665S probably benign Het
Fbxl6 A T 15: 76,420,054 (GRCm39) C520S probably damaging Het
Fscn2 C A 11: 120,252,853 (GRCm39) H107N probably damaging Het
Gfm2 C T 13: 97,299,461 (GRCm39) T367M probably damaging Het
Gle1 C G 2: 29,826,127 (GRCm39) P69A probably benign Het
Gpr156 A T 16: 37,807,881 (GRCm39) D176V probably damaging Het
Grip2 A G 6: 91,742,369 (GRCm39) S895P possibly damaging Het
Hfm1 C T 5: 106,989,504 (GRCm39) G1404D probably benign Het
Ifit1bl1 G A 19: 34,571,570 (GRCm39) R296* probably null Het
Ighv1-39 C T 12: 114,878,479 (GRCm39) V31M possibly damaging Het
Itgav A G 2: 83,632,380 (GRCm39) E956G probably damaging Het
Katnip C A 7: 125,352,159 (GRCm39) D26E probably damaging Het
Mdh1b T G 1: 63,754,398 (GRCm39) H390P possibly damaging Het
Mtrf1l A T 10: 5,767,468 (GRCm39) I216N possibly damaging Het
Muc16 G A 9: 18,566,222 (GRCm39) T2099I unknown Het
Myh7 T C 14: 55,221,149 (GRCm39) R925G probably damaging Het
Myo1h T A 5: 114,489,769 (GRCm39) I658N probably damaging Het
Myo5a A T 9: 75,097,195 (GRCm39) D81V possibly damaging Het
Nell1 G A 7: 49,625,171 (GRCm39) C12Y possibly damaging Het
Obscn T C 11: 58,944,522 (GRCm39) Y4724C probably damaging Het
Or8k53 A G 2: 86,177,892 (GRCm39) Y73H probably damaging Het
Pah G A 10: 87,412,049 (GRCm39) D315N probably damaging Het
Per2 A G 1: 91,376,444 (GRCm39) V143A probably damaging Het
Plcxd1 T C 5: 110,248,165 (GRCm39) V38A probably benign Het
Pld1 A G 3: 28,184,896 (GRCm39) probably benign Het
Plekhh2 A G 17: 84,883,215 (GRCm39) N761S probably benign Het
Polh T C 17: 46,493,664 (GRCm39) I318V probably benign Het
Prex1 T C 2: 166,414,880 (GRCm39) Q1323R probably null Het
Rb1cc1 T A 1: 6,333,481 (GRCm39) S1440T probably benign Het
Rbm19 G T 5: 120,265,105 (GRCm39) W382L possibly damaging Het
Rchy1 T C 5: 92,105,801 (GRCm39) D49G probably benign Het
Ric1 A G 19: 29,581,485 (GRCm39) D1402G probably benign Het
S1pr3 G T 13: 51,573,067 (GRCm39) A83S probably damaging Het
S1pr3 C A 13: 51,573,068 (GRCm39) A83D probably damaging Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Serpinb9c T C 13: 33,333,978 (GRCm39) R355G probably damaging Het
Slx4 G C 16: 3,808,714 (GRCm39) Q409E probably benign Het
Sntg1 A C 1: 8,653,508 (GRCm39) L243R possibly damaging Het
Specc1l G T 10: 75,084,322 (GRCm39) D682Y probably damaging Het
Spen C T 4: 141,198,944 (GRCm39) V3228I possibly damaging Het
Strip1 T C 3: 107,535,516 (GRCm39) E69G probably damaging Het
Tasp1 C A 2: 139,793,457 (GRCm39) V240L probably damaging Het
Tdrd9 T A 12: 112,001,042 (GRCm39) F787L probably damaging Het
Vmn1r228 A G 17: 20,997,144 (GRCm39) S125P probably damaging Het
Wdhd1 A G 14: 47,489,379 (GRCm39) M718T probably damaging Het
Other mutations in Lsm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Lsm8 APN 6 18,851,699 (GRCm39) missense probably damaging 1.00
IGL02529:Lsm8 APN 6 18,851,651 (GRCm39) missense probably damaging 1.00
LCD18:Lsm8 UTSW 6 18,854,320 (GRCm39) unclassified probably benign
LCD18:Lsm8 UTSW 6 18,844,315 (GRCm39) unclassified probably benign
R1496:Lsm8 UTSW 6 18,849,658 (GRCm39) missense probably benign 0.00
R2403:Lsm8 UTSW 6 18,849,643 (GRCm39) missense probably benign 0.04
R4184:Lsm8 UTSW 6 18,849,604 (GRCm39) intron probably benign
R5630:Lsm8 UTSW 6 18,851,672 (GRCm39) missense probably damaging 1.00
R6404:Lsm8 UTSW 6 18,848,739 (GRCm39) missense possibly damaging 0.47
R7936:Lsm8 UTSW 6 18,849,658 (GRCm39) missense probably benign 0.00
R8744:Lsm8 UTSW 6 18,853,638 (GRCm39) missense probably benign
R8883:Lsm8 UTSW 6 18,851,747 (GRCm39) missense probably benign 0.20
R9014:Lsm8 UTSW 6 18,853,632 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GATGAAATGGCTTTTGTTTCCTACC -3'
(R):5'- ACCTGTAGACGGCCATTTAC -3'

Sequencing Primer
(F):5'- ACCTTGTATTTTTGCTGCACC -3'
(R):5'- AGACGGCCATTTACTATCTGG -3'
Posted On 2018-04-27