Incidental Mutation 'IGL02447:Lsm11'
ID294041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsm11
Ensembl Gene ENSMUSG00000044847
Gene NameU7 snRNP-specific Sm-like protein LSM11
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02447
Quality Score
Status
Chromosome11
Chromosomal Location45928269-45944935 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45937364 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 196 (N196D)
Ref Sequence ENSEMBL: ENSMUSP00000117531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062458] [ENSMUST00000129820]
Predicted Effect probably damaging
Transcript: ENSMUST00000062458
AA Change: N196D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057343
Gene: ENSMUSG00000044847
AA Change: N196D

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 damaging
Transcript: ENSMUST00000129820
AA Change: N196D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117531
Gene: ENSMUSG00000044847
AA Change: N196D

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,100,459 S73C probably damaging Het
Abhd18 T A 3: 40,933,773 F351I probably benign Het
Agfg1 T A 1: 82,882,223 probably benign Het
Antxr2 C T 5: 98,030,408 V48I possibly damaging Het
Bcl9l T C 9: 44,507,334 M823T probably benign Het
Card11 G A 5: 140,906,924 H129Y possibly damaging Het
Ccr1 A T 9: 123,963,716 V259E probably benign Het
Cdk13 G T 13: 17,772,416 P586T probably benign Het
Cep295 C T 9: 15,332,511 V1502I probably damaging Het
Csnk1g3 T C 18: 53,895,870 S32P probably benign Het
Dpysl4 G A 7: 139,098,600 R492Q probably damaging Het
Duox2 A G 2: 122,297,468 L78P probably damaging Het
Gm436 T A 4: 144,674,699 I72F probably benign Het
Gm7361 T C 5: 26,257,855 S32P probably benign Het
Grip1 T A 10: 120,020,071 V234E probably damaging Het
Herc1 A T 9: 66,497,328 I4477L possibly damaging Het
Il18r1 G A 1: 40,498,337 probably null Het
Itpkb A G 1: 180,421,354 probably benign Het
Jag2 T C 12: 112,912,612 Y799C probably damaging Het
Jak2 A G 19: 29,299,614 K857R probably damaging Het
Kbtbd12 A T 6: 88,618,694 S51R probably damaging Het
Kcnc2 T G 10: 112,455,946 D346E probably damaging Het
Kcnh1 T A 1: 192,224,916 M92K possibly damaging Het
Kcnk1 A G 8: 126,025,080 I142V probably damaging Het
Mpeg1 G T 19: 12,462,792 C538F probably damaging Het
Nrap G A 19: 56,345,519 Q969* probably null Het
Nup205 T C 6: 35,227,576 probably null Het
Pdcd5 A G 7: 35,642,685 V166A possibly damaging Het
Plcb2 A T 2: 118,713,155 I745N probably damaging Het
Ptprt T C 2: 162,278,107 T147A probably benign Het
Rbp3 A T 14: 33,954,503 D136V probably damaging Het
Ripor3 G T 2: 167,992,830 T247N probably damaging Het
Sgcd A C 11: 46,979,255 probably benign Het
Slc26a6 T C 9: 108,857,052 Y211H probably benign Het
Slc37a3 T A 6: 39,337,195 E494D probably benign Het
Smc5 T C 19: 23,257,492 E326G probably benign Het
Tctn2 T C 5: 124,615,253 noncoding transcript Het
Tk2 T A 8: 104,241,138 N93I probably damaging Het
Tmed6 A G 8: 107,065,608 F2L possibly damaging Het
Tox3 A G 8: 90,258,153 probably benign Het
Tspan9 T C 6: 127,964,438 Y237C probably benign Het
Ubqlnl A G 7: 104,148,649 L547P probably damaging Het
Uggt1 T C 1: 36,150,142 D1421G probably damaging Het
Unc80 T A 1: 66,503,544 I319K possibly damaging Het
Vac14 A G 8: 110,653,628 D441G probably benign Het
Vamp8 C T 6: 72,388,333 V5M probably damaging Het
Yeats2 T A 16: 20,193,679 H560Q probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp773 G T 7: 7,136,656 probably benign Het
Other mutations in Lsm11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Lsm11 APN 11 45933663 nonsense probably null
IGL01633:Lsm11 APN 11 45933788 missense probably benign 0.00
R1474:Lsm11 UTSW 11 45933903 missense probably benign 0.11
R4666:Lsm11 UTSW 11 45933813 missense probably damaging 0.98
R5022:Lsm11 UTSW 11 45944839 missense probably damaging 1.00
R5023:Lsm11 UTSW 11 45944839 missense probably damaging 1.00
R5736:Lsm11 UTSW 11 45944767 missense possibly damaging 0.80
R5935:Lsm11 UTSW 11 45944618 missense probably benign 0.02
R6861:Lsm11 UTSW 11 45933954 missense probably benign 0.00
R7694:Lsm11 UTSW 11 45933941 missense probably benign 0.10
Posted On2015-04-16