Incidental Mutation 'R5295:Lsm7'
ID 500923
Institutional Source Beutler Lab
Gene Symbol Lsm7
Ensembl Gene ENSMUSG00000035215
Gene Name LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated
Synonyms 0910001B06Rik, 1110033F18Rik
MMRRC Submission 042878-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R5295 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80688659-80691043 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80690454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 32 (E32G)
Ref Sequence ENSEMBL: ENSMUSP00000151340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035597] [ENSMUST00000035775] [ENSMUST00000220225] [ENSMUST00000220091]
AlphaFold Q9CQQ8
Predicted Effect probably benign
Transcript: ENSMUST00000035597
SMART Domains Protein: ENSMUSP00000036289
Gene: ENSMUSG00000035206

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 25 36 N/A INTRINSIC
Pfam:PA 55 147 5.5e-14 PFAM
transmembrane domain 167 189 N/A INTRINSIC
PSN 210 485 2.16e-113 SMART
low complexity region 520 531 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000035775
AA Change: E32G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044993
Gene: ENSMUSG00000035215
AA Change: E32G

DomainStartEndE-ValueType
Sm 13 86 3e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218007
Predicted Effect probably damaging
Transcript: ENSMUST00000220225
AA Change: E32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218897
Predicted Effect probably benign
Transcript: ENSMUST00000220091
Meta Mutation Damage Score 0.6043 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C T 18: 65,438,109 (GRCm39) E1095K probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Cbln3 T C 14: 56,120,920 (GRCm39) probably null Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Commd5 C A 15: 76,785,152 (GRCm39) T183K possibly damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fam186b T A 15: 99,181,755 (GRCm39) I148F probably damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Ighv1-77 T A 12: 115,825,528 (GRCm39) S104C probably damaging Het
Kcnv1 T C 15: 44,977,987 (GRCm39) D17G unknown Het
Lmtk3 G A 7: 45,440,722 (GRCm39) D243N probably damaging Het
Lrrc7 T A 3: 157,876,376 (GRCm39) K571N probably damaging Het
Ly6f A G 15: 75,143,488 (GRCm39) Q65R probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rnf213 A T 11: 119,331,642 (GRCm39) T2284S probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Sfmbt1 G A 14: 30,495,986 (GRCm39) D90N probably damaging Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Zmiz1 T C 14: 25,656,771 (GRCm39) L800P probably damaging Het
Znhit6 A G 3: 145,306,248 (GRCm39) D251G probably benign Het
Other mutations in Lsm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5244:Lsm7 UTSW 10 80,688,907 (GRCm39) missense probably benign 0.00
R5275:Lsm7 UTSW 10 80,690,454 (GRCm39) missense probably damaging 1.00
R6034:Lsm7 UTSW 10 80,688,742 (GRCm39) splice site probably null
R6034:Lsm7 UTSW 10 80,688,742 (GRCm39) splice site probably null
R7256:Lsm7 UTSW 10 80,689,565 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- ACTTGACTCCTTTCCTGGGG -3'
(R):5'- GCATTCAATTAGGCAGACACTG -3'

Sequencing Primer
(F):5'- GACTCCTTTCCTGGGGCTCTG -3'
(R):5'- CCTGAGTTGGAAAGGAGTCCCTG -3'
Posted On 2017-12-01