Incidental Mutation 'IGL00693:Lsm14b'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsm14b
Ensembl Gene ENSMUSG00000039108
Gene NameLSM family member 14B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00693
Quality Score
Chromosomal Location180024987-180035465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 180032626 bp
Amino Acid Change Asparagine to Aspartic acid at position 241 (N241D)
Ref Sequence ENSEMBL: ENSMUSP00000062519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029082] [ENSMUST00000055485] [ENSMUST00000058764] [ENSMUST00000129529]
Predicted Effect probably benign
Transcript: ENSMUST00000029082
SMART Domains Protein: ENSMUSP00000029082
Gene: ENSMUSG00000027566

Proteasome_A_N 3 25 1.84e-9 SMART
Pfam:Proteasome 26 211 1.5e-65 PFAM
low complexity region 223 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000055485
AA Change: N321D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055036
Gene: ENSMUSG00000039108
AA Change: N321D

LSM14 3 100 4.33e-53 SMART
low complexity region 123 142 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
FDF 247 350 3.37e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000058764
AA Change: N241D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062519
Gene: ENSMUSG00000039108
AA Change: N241D

low complexity region 4 23 N/A INTRINSIC
low complexity region 28 44 N/A INTRINSIC
low complexity region 136 158 N/A INTRINSIC
FDF 167 270 3.37e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126021
Predicted Effect probably benign
Transcript: ENSMUST00000129529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135650
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140257
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,052,547 probably benign Het
Aldh1a7 G A 19: 20,700,046 P404S probably damaging Het
Armc4 C T 18: 7,211,504 G790D probably damaging Het
Ccng1 A G 11: 40,754,058 V4A probably benign Het
Col4a3 T C 1: 82,697,754 Y1176H unknown Het
Dyrk3 T C 1: 131,136,337 I3V possibly damaging Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Gpsm3 A G 17: 34,591,273 E149G probably damaging Het
Hsd3b6 A C 3: 98,806,278 L235R probably damaging Het
Ipo11 A T 13: 106,897,260 F238Y probably damaging Het
Kcnh7 C T 2: 62,734,254 R887K probably benign Het
Lrrc8a T C 2: 30,255,315 V47A probably benign Het
Mtss1 T A 15: 58,944,124 D529V probably damaging Het
Nupl1 A T 14: 60,238,520 S283T probably benign Het
Pno1 A G 11: 17,211,317 L64P probably benign Het
Proc A G 18: 32,123,513 V367A probably benign Het
Sez6l A T 5: 112,422,013 I964N probably damaging Het
Speer2 A T 16: 69,860,518 M79K probably benign Het
Tef T C 15: 81,815,183 S131P probably benign Het
Ubr2 T C 17: 46,972,981 T581A probably benign Het
Unc13c A T 9: 73,758,602 D1045E probably benign Het
Vsig8 T C 1: 172,561,589 V136A probably damaging Het
Wee1 A T 7: 110,134,853 probably null Het
Other mutations in Lsm14b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Lsm14b APN 2 180032603 missense probably damaging 1.00
IGL03078:Lsm14b APN 2 180026728 missense probably damaging 1.00
PIT4283001:Lsm14b UTSW 2 180032543 missense probably benign 0.00
R1166:Lsm14b UTSW 2 180031541 unclassified probably benign
R1777:Lsm14b UTSW 2 180031795 missense probably benign 0.24
R1840:Lsm14b UTSW 2 180026728 missense probably damaging 1.00
R2095:Lsm14b UTSW 2 180031787 unclassified probably benign
R4033:Lsm14b UTSW 2 180031516 missense probably benign 0.44
R4720:Lsm14b UTSW 2 180027981 nonsense probably null
R4967:Lsm14b UTSW 2 180033899 unclassified probably benign
R5964:Lsm14b UTSW 2 180031425 missense probably benign 0.12
Posted On2012-12-06