Incidental Mutation 'IGL02529:Lsm8'
ID 297243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsm8
Ensembl Gene ENSMUSG00000044155
Gene Name LSM8 homolog, U6 small nuclear RNA associated
Synonyms Lsm8, 2010003I05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL02529
Quality Score
Status
Chromosome 6
Chromosomal Location 18848634-18854051 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18851651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 34 (F34S)
Ref Sequence ENSEMBL: ENSMUSP00000144884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056398] [ENSMUST00000201141]
AlphaFold Q6ZWM4
Predicted Effect probably damaging
Transcript: ENSMUST00000056398
AA Change: F30S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057238
Gene: ENSMUSG00000044155
AA Change: F30S

DomainStartEndE-ValueType
Sm 3 72 2.83e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180863
Predicted Effect probably damaging
Transcript: ENSMUST00000201141
AA Change: F34S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144884
Gene: ENSMUSG00000044155
AA Change: F34S

DomainStartEndE-ValueType
Sm 8 76 1.3e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202542
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,190 (GRCm39) H925L probably benign Het
Agpat5 T A 8: 18,931,770 (GRCm39) Y297N possibly damaging Het
Apobec3 C T 15: 79,781,888 (GRCm39) probably benign Het
Atpaf1 C A 4: 115,648,466 (GRCm39) A161E probably damaging Het
Bnc1 A T 7: 81,627,116 (GRCm39) D91E probably damaging Het
Capg G A 6: 72,532,829 (GRCm39) V98I probably benign Het
Ccdc7b C T 8: 129,904,706 (GRCm39) L115F possibly damaging Het
Ces2a T A 8: 105,463,851 (GRCm39) probably benign Het
Cldn6 T G 17: 23,900,291 (GRCm39) V85G probably damaging Het
Clec2e T C 6: 129,075,459 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhx38 T C 8: 110,285,645 (GRCm39) E396G probably benign Het
Dock8 A T 19: 25,078,290 (GRCm39) K532* probably null Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Gmip G A 8: 70,269,439 (GRCm39) G537E probably damaging Het
Hacd1 T C 2: 14,050,013 (GRCm39) H64R probably damaging Het
Hdac3 G T 18: 38,077,185 (GRCm39) Q230K probably benign Het
Htt C T 5: 34,976,387 (GRCm39) probably benign Het
Il18r1 A G 1: 40,526,219 (GRCm39) D255G possibly damaging Het
Krt82 T A 15: 101,458,831 (GRCm39) R70* probably null Het
Krt9 G T 11: 100,080,792 (GRCm39) H353Q probably damaging Het
Kyat3 T C 3: 142,426,235 (GRCm39) I57T probably benign Het
L1td1 A G 4: 98,625,658 (GRCm39) K618E probably benign Het
Limch1 C A 5: 67,159,956 (GRCm39) N617K possibly damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Mmrn2 C A 14: 34,120,570 (GRCm39) A480E possibly damaging Het
Mthfd1 A G 12: 76,350,483 (GRCm39) I474V probably benign Het
Mycl A G 4: 122,890,770 (GRCm39) K152R probably damaging Het
Numa1 A G 7: 101,649,160 (GRCm39) probably null Het
Or5p54 G T 7: 107,554,423 (GRCm39) V192F possibly damaging Het
Otog A C 7: 45,909,381 (GRCm39) D617A probably damaging Het
Ppef2 A G 5: 92,392,596 (GRCm39) I267T probably damaging Het
Ptprq A G 10: 107,471,226 (GRCm39) Y1392H probably benign Het
Rasgrp3 G T 17: 75,832,097 (GRCm39) K639N possibly damaging Het
Rgs19 C T 2: 181,330,943 (GRCm39) R203H probably benign Het
Scnn1g C A 7: 121,341,669 (GRCm39) probably benign Het
Tmem181b-ps T C 17: 6,734,320 (GRCm39) noncoding transcript Het
Vmn2r118 A G 17: 55,917,870 (GRCm39) V214A possibly damaging Het
Zfp811 T C 17: 33,016,789 (GRCm39) Y417C probably damaging Het
Other mutations in Lsm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Lsm8 APN 6 18,851,699 (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
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
Posted On 2015-04-16