Incidental Mutation 'R5736:Lsm11'
ID 451711
Institutional Source Beutler Lab
Gene Symbol Lsm11
Ensembl Gene ENSMUSG00000044847
Gene Name U7 snRNP-specific Sm-like protein LSM11
Synonyms 2210404M20Rik
MMRRC Submission 043194-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5736 (G1)
Quality Score 127
Status Not validated
Chromosome 11
Chromosomal Location 45819096-45835762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45835594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 49 (N49S)
Ref Sequence ENSEMBL: ENSMUSP00000117531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000062458] [ENSMUST00000109254] [ENSMUST00000129820]
AlphaFold Q8BUV6
Predicted Effect probably benign
Transcript: ENSMUST00000011398
SMART Domains Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Thg1 35 164 1e-53 PFAM
Pfam:Thg1C 167 283 2.6e-47 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000062458
AA Change: N49S

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057343
Gene: ENSMUSG00000044847
AA Change: N49S

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 33 51 N/A INTRINSIC
low complexity region 65 106 N/A INTRINSIC
Pfam:LSM 159 240 3.6e-8 PFAM
low complexity region 273 306 N/A INTRINSIC
SCOP:d1b34b_ 327 358 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109254
SMART Domains Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254

DomainStartEndE-ValueType
Pfam:Thg1 2 104 2.1e-37 PFAM
Pfam:Thg1C 105 235 6.5e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000129820
AA Change: N49S

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117531
Gene: ENSMUSG00000044847
AA Change: N49S

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 33 51 N/A INTRINSIC
low complexity region 65 106 N/A INTRINSIC
SCOP:d1b34b_ 156 225 3e-8 SMART
Blast:Sm 158 359 1e-104 BLAST
SCOP:d1b34b_ 327 358 2e-3 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.5%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095N17Rik G A 1: 75,197,211 (GRCm39) probably benign Het
Akt1 G A 12: 112,623,284 (GRCm39) R367C probably benign Het
Arl8a T A 1: 135,082,458 (GRCm39) S150T probably benign Het
B020004C17Rik A T 14: 57,254,823 (GRCm39) T216S possibly damaging Het
Casz1 G A 4: 149,013,867 (GRCm39) V144I probably benign Het
Cd274 G T 19: 29,359,940 (GRCm39) L248F probably benign Het
Crisp4 T C 1: 18,185,939 (GRCm39) T266A probably benign Het
Dlx6 A T 6: 6,863,660 (GRCm39) H94L probably damaging Het
Exoc1 A G 5: 76,685,615 (GRCm39) N109S possibly damaging Het
Grik2 T C 10: 49,280,506 (GRCm39) E128G probably damaging Het
Hs3st4 G A 7: 123,996,662 (GRCm39) E443K probably damaging Het
Ihh T C 1: 74,985,286 (GRCm39) T400A probably benign Het
Lamb1 T A 12: 31,352,664 (GRCm39) C806* probably null Het
Lrrn1 T C 6: 107,544,345 (GRCm39) S48P probably damaging Het
Map3k11 C T 19: 5,746,739 (GRCm39) A507V probably damaging Het
Mill2 A T 7: 18,592,174 (GRCm39) Q265L probably benign Het
Odad2 T C 18: 7,268,416 (GRCm39) T368A probably benign Het
Or4s2b T C 2: 88,508,985 (GRCm39) M255T probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Peg10 T A 6: 4,754,423 (GRCm39) L68Q probably benign Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Prkag2 A T 5: 25,083,720 (GRCm39) Y88N probably damaging Het
Prmt5 A C 14: 54,752,297 (GRCm39) D166E probably null Het
Robo4 A T 9: 37,316,093 (GRCm39) T366S possibly damaging Het
Samd3 T C 10: 26,146,070 (GRCm39) I365T probably damaging Het
Sdf2l1 A T 16: 16,949,571 (GRCm39) C92S probably damaging Het
Serpinb6e A G 13: 34,016,753 (GRCm39) F327L probably damaging Het
Slc17a6 G A 7: 51,294,841 (GRCm39) V183I possibly damaging Het
Slc6a11 T C 6: 114,139,123 (GRCm39) S244P probably damaging Het
Slc6a5 A G 7: 49,609,102 (GRCm39) D769G probably benign Het
Slc7a14 A T 3: 31,278,059 (GRCm39) D515E probably benign Het
Slco2a1 A T 9: 102,945,029 (GRCm39) S135C probably benign Het
Spidr A T 16: 15,715,162 (GRCm39) D801E probably damaging Het
Spta1 T C 1: 174,041,821 (GRCm39) probably null Het
Tmem71 C T 15: 66,404,496 (GRCm39) V264I probably benign Het
Zfp563 G T 17: 33,323,960 (GRCm39) R185L possibly damaging Het
Zfp941 G A 7: 140,392,973 (GRCm39) P129S probably benign Het
Other mutations in Lsm11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Lsm11 APN 11 45,824,490 (GRCm39) nonsense probably null
IGL01633:Lsm11 APN 11 45,824,615 (GRCm39) missense probably benign 0.00
IGL02447:Lsm11 APN 11 45,828,191 (GRCm39) missense probably damaging 1.00
R1474:Lsm11 UTSW 11 45,824,730 (GRCm39) missense probably benign 0.11
R4666:Lsm11 UTSW 11 45,824,640 (GRCm39) missense probably damaging 0.98
R5022:Lsm11 UTSW 11 45,835,666 (GRCm39) missense probably damaging 1.00
R5023:Lsm11 UTSW 11 45,835,666 (GRCm39) missense probably damaging 1.00
R5935:Lsm11 UTSW 11 45,835,445 (GRCm39) missense probably benign 0.02
R6861:Lsm11 UTSW 11 45,824,781 (GRCm39) missense probably benign 0.00
R7694:Lsm11 UTSW 11 45,824,768 (GRCm39) missense probably benign 0.10
R8158:Lsm11 UTSW 11 45,824,824 (GRCm39) missense probably benign 0.17
R8396:Lsm11 UTSW 11 45,835,591 (GRCm39) missense probably benign 0.44
R8416:Lsm11 UTSW 11 45,824,730 (GRCm39) missense probably benign 0.11
R8729:Lsm11 UTSW 11 45,835,727 (GRCm39) missense possibly damaging 0.94
R9204:Lsm11 UTSW 11 45,824,789 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCCTCCTTGACCACCATGAG -3'
(R):5'- CTCCAGAGCGAATCTATGCTGC -3'

Sequencing Primer
(F):5'- TTGACCACCATGAGCCGGC -3'
(R):5'- GAATCTATGCTGCCCCCTGG -3'
Posted On 2017-01-03