Incidental Mutation 'IGL00693:Lsm14b'
ID11864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsm14b
Ensembl Gene ENSMUSG00000039108
Gene NameLSM family member 14B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00693
Quality Score
Status
Chromosome2
Chromosomal Location180024987-180035465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 180032626 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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