Incidental Mutation 'R9326:Lsm5'
ID 706516
Institutional Source Beutler Lab
Gene Symbol Lsm5
Ensembl Gene ENSMUSG00000091625
Gene Name LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
Synonyms 2010208O10Rik, 2310034K10Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R9326 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 56678048-56681684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56681616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 13 (L13Q)
Ref Sequence ENSEMBL: ENSMUSP00000126565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170382] [ENSMUST00000176595] [ENSMUST00000177144] [ENSMUST00000203958]
AlphaFold P62322
Predicted Effect possibly damaging
Transcript: ENSMUST00000170382
AA Change: L13Q

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126565
Gene: ENSMUSG00000091625
AA Change: L13Q

DomainStartEndE-ValueType
Sm 16 84 5.65e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176595
AA Change: L13Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000145140
Gene: ENSMUSG00000091625
AA Change: L13Q

DomainStartEndE-ValueType
Pfam:LSM 16 58 1e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177144
AA Change: L9Q

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000203958
AA Change: L13Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144811
Gene: ENSMUSG00000091625
AA Change: L13Q

DomainStartEndE-ValueType
Pfam:LSM 15 52 9.3e-9 PFAM
Meta Mutation Damage Score 0.4601 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,849,882 (GRCm39) Y230* probably null Het
Adamts14 A G 10: 61,036,238 (GRCm39) S1015P probably benign Het
Adamts8 A G 9: 30,854,886 (GRCm39) T252A probably benign Het
Adamtsl1 T A 4: 86,150,804 (GRCm39) S149T possibly damaging Het
Afp A G 5: 90,652,205 (GRCm39) K399E probably damaging Het
Atp8b1 T A 18: 64,706,344 (GRCm39) S222C probably damaging Het
Ccdc88c C A 12: 100,995,109 (GRCm39) probably benign Het
Cfap276 C T 3: 108,451,931 (GRCm39) R159W probably damaging Het
Cip2a G A 16: 48,834,235 (GRCm39) probably null Het
Cluh A G 11: 74,554,902 (GRCm39) K780R probably benign Het
Cope C A 8: 70,755,516 (GRCm39) F20L possibly damaging Het
Cps1 G T 1: 67,248,795 (GRCm39) R1174L probably damaging Het
Csmd1 G A 8: 16,049,803 (GRCm39) T2271I probably benign Het
Ctbp2 A G 7: 132,616,359 (GRCm39) I192T probably benign Het
Dcun1d4 A G 5: 73,680,018 (GRCm39) T106A probably benign Het
Ddb2 A T 2: 91,047,559 (GRCm39) M240K probably benign Het
Ddx20 A T 3: 105,591,735 (GRCm39) V145D probably damaging Het
Ddx31 A G 2: 28,749,008 (GRCm39) D268G probably damaging Het
Drc7 A G 8: 95,801,886 (GRCm39) I716V probably benign Het
Epb41l4a G T 18: 33,961,261 (GRCm39) Y424* probably null Het
Exog A G 9: 119,291,554 (GRCm39) N277S probably damaging Het
Fzd7 T C 1: 59,522,837 (GRCm39) L240P possibly damaging Het
Gpr87 T C 3: 59,086,609 (GRCm39) T299A probably damaging Het
Hecw2 A G 1: 54,079,369 (GRCm39) Y95H probably damaging Het
Idh1 T C 1: 65,205,416 (GRCm39) Y183C probably damaging Het
Ighv14-4 T A 12: 114,140,469 (GRCm39) I7F possibly damaging Het
Il1rap A T 16: 26,495,641 (GRCm39) I83F probably damaging Het
Jag1 A G 2: 136,931,745 (GRCm39) S609P probably benign Het
Klhl33 T C 14: 51,134,615 (GRCm39) E9G possibly damaging Het
Lama2 A G 10: 26,906,193 (GRCm39) F2421L probably benign Het
Lmod2 A T 6: 24,597,999 (GRCm39) I40F probably damaging Het
Man2c1 G T 9: 57,042,904 (GRCm39) C258F probably damaging Het
Mgst1 T C 6: 138,120,023 (GRCm39) S28P probably benign Het
Msh3 A T 13: 92,400,307 (GRCm39) V744E probably benign Het
Mtx2 C T 2: 74,656,287 (GRCm39) probably benign Het
N4bp3 C T 11: 51,535,313 (GRCm39) R292H probably benign Het
Neto2 A T 8: 86,369,063 (GRCm39) W354R probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Nutm1 A T 2: 112,078,692 (GRCm39) S1074R possibly damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or10ag56 T A 2: 87,139,730 (GRCm39) M219K probably benign Het
Or5aq1 T C 2: 86,966,647 (GRCm39) H6R probably benign Het
Or7g29 A T 9: 19,286,346 (GRCm39) M277K probably damaging Het
Or8s8 T C 15: 98,354,935 (GRCm39) V248A probably damaging Het
Pi4kb T A 3: 94,900,506 (GRCm39) probably null Het
Rgsl1 C T 1: 153,679,768 (GRCm39) D103N probably benign Het
Rrbp1 G A 2: 143,806,744 (GRCm39) T958M probably damaging Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Setd2 T C 9: 110,378,671 (GRCm39) C829R probably benign Het
Snd1 A T 6: 28,795,842 (GRCm39) R562* probably null Het
Snx27 A T 3: 94,409,369 (GRCm39) Y526N probably damaging Het
Stab2 A G 10: 86,791,010 (GRCm39) L483P probably damaging Het
Sybu A G 15: 44,537,019 (GRCm39) S436P probably damaging Het
Thy1 A G 9: 43,957,983 (GRCm39) D37G probably damaging Het
Tmed8 A T 12: 87,221,395 (GRCm39) I126N probably damaging Het
Tmem161b T A 13: 84,440,602 (GRCm39) L340* probably null Het
Tpr C T 1: 150,301,407 (GRCm39) A1331V possibly damaging Het
Tprg1 G A 16: 25,136,107 (GRCm39) E33K probably benign Het
Vps26b T C 9: 26,930,627 (GRCm39) N123D probably damaging Het
Wdr7 G A 18: 63,872,260 (GRCm39) S398N probably benign Het
Zbtb48 T C 4: 152,111,509 (GRCm39) D2G probably damaging Het
Zfp975 G A 7: 42,311,837 (GRCm39) R259* probably null Het
Zfp986 T A 4: 145,626,451 (GRCm39) H370Q probably damaging Het
Other mutations in Lsm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0526:Lsm5 UTSW 6 56,680,310 (GRCm39) missense probably damaging 1.00
R2366:Lsm5 UTSW 6 56,680,003 (GRCm39) missense probably damaging 1.00
R4959:Lsm5 UTSW 6 56,680,309 (GRCm39) missense probably damaging 0.99
R4973:Lsm5 UTSW 6 56,680,309 (GRCm39) missense probably damaging 0.99
R6811:Lsm5 UTSW 6 56,679,127 (GRCm39) missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- CGACTCATGACATCTTACTGGC -3'
(R):5'- ATCGAATCTGTCTGCGATCC -3'

Sequencing Primer
(F):5'- AGCACGTCCTTCACTAAGTGG -3'
(R):5'- CGAATCTGTCTGCGATCCATTGG -3'
Posted On 2022-04-18