Incidental Mutation 'R8883:Lsm8'
ID 677101
Institutional Source Beutler Lab
Gene Symbol Lsm8
Ensembl Gene ENSMUSG00000044155
Gene Name LSM8 homolog, U6 small nuclear RNA associated
Synonyms Lsm8, 2010003I05Rik
MMRRC Submission 068689-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R8883 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 18848634-18854051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18851747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 62 (V62A)
Ref Sequence ENSEMBL: ENSMUSP00000057238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056398] [ENSMUST00000201141]
AlphaFold Q6ZWM4
Predicted Effect probably benign
Transcript: ENSMUST00000056398
AA Change: V62A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000057238
Gene: ENSMUSG00000044155
AA Change: V62A

DomainStartEndE-ValueType
Sm 3 72 2.83e-20 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000144884
Gene: ENSMUSG00000044155
AA Change: V66A

DomainStartEndE-ValueType
Sm 8 76 1.3e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,283,168 (GRCm39) S3197P probably benign Het
Arih2 A G 9: 108,486,992 (GRCm39) S315P probably damaging Het
Atp1b3 A T 9: 96,246,122 (GRCm39) L29Q probably damaging Het
Bsn G A 9: 107,990,227 (GRCm39) P1842S probably damaging Het
Ccnb1ip1 G C 14: 51,027,359 (GRCm39) P248A probably benign Het
Cep76 T C 18: 67,766,540 (GRCm39) Q262R probably benign Het
Cox10 T C 11: 63,884,775 (GRCm39) E210G probably damaging Het
Dcaf1 T G 9: 106,724,839 (GRCm39) probably benign Het
Dgki A T 6: 36,993,608 (GRCm39) D584E probably damaging Het
Evpl T C 11: 116,121,243 (GRCm39) E428G probably damaging Het
Fbh1 A G 2: 11,753,922 (GRCm39) F807L probably benign Het
Fbxo11 A G 17: 88,305,044 (GRCm39) V533A Het
Fermt3 G T 19: 6,980,600 (GRCm39) D322E probably damaging Het
Fsip2 G T 2: 82,809,524 (GRCm39) V1948L possibly damaging Het
Gata4 T C 14: 63,442,204 (GRCm39) D206G probably benign Het
Gjd3 A G 11: 102,691,769 (GRCm39) V78A probably damaging Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Hmces G A 6: 87,910,396 (GRCm39) A269T probably benign Het
Kalrn A T 16: 33,814,025 (GRCm39) N2434K probably damaging Het
Kif1b A T 4: 149,361,342 (GRCm39) S49T probably benign Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lap3 C A 5: 45,669,272 (GRCm39) H474N probably benign Het
Ldlrad1 A G 4: 107,073,412 (GRCm39) Y149C probably damaging Het
Map3k14 T G 11: 103,130,278 (GRCm39) Q213P probably benign Het
Mboat2 T G 12: 25,009,033 (GRCm39) H478Q Het
Mepce C A 5: 137,784,779 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,636 (GRCm39) R233H Het
Muc2 A G 7: 141,287,469 (GRCm39) H216R probably damaging Het
Ntmt1 G A 2: 30,712,466 (GRCm39) A170T probably benign Het
Or2ag15 A G 7: 106,340,274 (GRCm39) I289T possibly damaging Het
Or2d3 A C 7: 106,490,536 (GRCm39) M260R probably damaging Het
Or5w17 T A 2: 87,583,838 (GRCm39) L166F probably damaging Het
Or8g19 A G 9: 39,056,083 (GRCm39) H229R probably benign Het
Pebp4 G T 14: 70,085,098 (GRCm39) C52F probably damaging Het
Pigm T A 1: 172,205,085 (GRCm39) Y274N probably damaging Het
Pik3r6 T C 11: 68,424,468 (GRCm39) S358P probably benign Het
Plekhd1 T C 12: 80,767,368 (GRCm39) I252T probably benign Het
Prss3b G T 6: 41,009,305 (GRCm39) Y176* probably null Het
Racgap1 A G 15: 99,526,540 (GRCm39) V341A probably benign Het
Rprd1a T C 18: 24,640,260 (GRCm39) D172G possibly damaging Het
Spg11 T C 2: 121,943,561 (GRCm39) D197G probably damaging Het
Spmap2 T C 10: 79,412,474 (GRCm39) D339G probably benign Het
Spta1 A T 1: 174,021,145 (GRCm39) K574N possibly damaging Het
Srrd A T 5: 112,487,790 (GRCm39) F130L possibly damaging Het
Stim1 A T 7: 102,080,257 (GRCm39) H547L unknown Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Tap1 T C 17: 34,406,867 (GRCm39) V5A unknown Het
Tent5c C A 3: 100,379,707 (GRCm39) A350S probably benign Het
Usp45 G A 4: 21,825,006 (GRCm39) G586D probably damaging Het
Vps13c G T 9: 67,855,479 (GRCm39) A2515S probably benign Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfyve28 T C 5: 34,375,211 (GRCm39) probably null 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
R6345:Lsm8 UTSW 6 18,853,644 (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
R9014:Lsm8 UTSW 6 18,853,632 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- ACTTGGCTGACAACTGAAATG -3'
(R):5'- TTGACCCCTGAGGCATCTAAAC -3'

Sequencing Primer
(F):5'- ACTTGGCTGACAACTGAAATGGTTTG -3'
(R):5'- GAGGCATCTAAACATACAGCATTTAG -3'
Posted On 2021-08-02