Incidental Mutation 'IGL02598:Lin28b'
ID 299952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lin28b
Ensembl Gene ENSMUSG00000063804
Gene Name lin-28 homolog B
Synonyms D030047M17Rik, 2810403D23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02598
Quality Score
Status
Chromosome 10
Chromosomal Location 45252713-45362410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45296622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 125 (D125E)
Ref Sequence ENSEMBL: ENSMUSP00000078361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079390]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000079390
AA Change: D125E

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078361
Gene: ENSMUSG00000063804
AA Change: D125E

DomainStartEndE-ValueType
CSP 29 100 3.98e-14 SMART
ZnF_C2HC 150 166 2.77e-2 SMART
ZnF_C2HC 172 188 1.79e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215708
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3' UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal dwarfism in male, but not female, mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,834,448 (GRCm39) M1K probably null Het
Abca13 C T 11: 9,381,898 (GRCm39) T3850I probably damaging Het
Abcc4 A T 14: 118,905,781 (GRCm39) L95* probably null Het
Acacb A G 5: 114,384,098 (GRCm39) Y2209C probably damaging Het
Acadm A G 3: 153,644,181 (GRCm39) probably benign Het
Arid2 G A 15: 96,269,417 (GRCm39) V1177M probably damaging Het
Atp8a1 A T 5: 67,840,099 (GRCm39) probably null Het
Catsperd A G 17: 56,954,815 (GRCm39) probably null Het
Cd28 A G 1: 60,802,498 (GRCm39) probably benign Het
Cep164 A G 9: 45,682,002 (GRCm39) Y1934H probably damaging Het
Cep350 T C 1: 155,738,713 (GRCm39) I2377V probably benign Het
Csmd3 T C 15: 47,533,086 (GRCm39) K1581E probably damaging Het
Dab2 A T 15: 6,458,847 (GRCm39) N232I probably damaging Het
Dyrk4 G A 6: 126,860,982 (GRCm39) probably benign Het
Efcab14 T A 4: 115,597,631 (GRCm39) C75* probably null Het
Elovl1 T C 4: 118,288,616 (GRCm39) probably null Het
Eps8l2 T G 7: 140,934,849 (GRCm39) probably benign Het
Grik1 A T 16: 87,744,872 (GRCm39) V460E probably damaging Het
Gtf2f2 A G 14: 76,245,182 (GRCm39) S35P probably benign Het
Ifi203 A G 1: 173,762,568 (GRCm39) probably benign Het
Ifi209 T C 1: 173,472,281 (GRCm39) V374A probably damaging Het
Kics2 G A 10: 121,575,876 (GRCm39) probably benign Het
Lars1 A G 18: 42,360,342 (GRCm39) S705P possibly damaging Het
Lcmt1 A G 7: 123,020,871 (GRCm39) probably benign Het
Limd1 T C 9: 123,345,933 (GRCm39) S571P probably benign Het
Limd1 T A 9: 123,309,236 (GRCm39) Y312N probably benign Het
Lmtk3 T C 7: 45,442,564 (GRCm39) S416P probably damaging Het
Map7d3 T C X: 55,855,146 (GRCm39) T446A probably benign Het
Masp1 T A 16: 23,278,381 (GRCm39) M523L probably benign Het
Mroh4 C A 15: 74,483,092 (GRCm39) probably null Het
Mtmr6 G A 14: 60,537,953 (GRCm39) A651T probably damaging Het
Myocd A G 11: 65,074,296 (GRCm39) S738P probably benign Het
Or10a2 A T 7: 106,673,923 (GRCm39) N296I possibly damaging Het
Or4d5 A T 9: 40,011,861 (GRCm39) F308L probably benign Het
Or52l1 A G 7: 104,830,163 (GRCm39) V134A probably damaging Het
Or5d46 A T 2: 88,170,595 (GRCm39) I229F possibly damaging Het
Or6c3b A T 10: 129,527,142 (GRCm39) I256N possibly damaging Het
Parg G T 14: 31,936,281 (GRCm39) V479L probably damaging Het
Pcdhb10 C A 18: 37,546,834 (GRCm39) H637N possibly damaging Het
Plekhg2 G A 7: 28,059,900 (GRCm39) T1118I possibly damaging Het
Podxl T C 6: 31,501,355 (GRCm39) E400G probably damaging Het
Prss54 C A 8: 96,292,337 (GRCm39) V81F probably damaging Het
Pzp A G 6: 128,464,420 (GRCm39) L1369P probably benign Het
Rfx8 A T 1: 39,735,128 (GRCm39) probably benign Het
Rgs6 C T 12: 83,138,571 (GRCm39) P302S probably benign Het
Rnf148 A C 6: 23,654,456 (GRCm39) I180S probably damaging Het
Sacm1l A G 9: 123,408,061 (GRCm39) D350G probably benign Het
Slc33a1 C T 3: 63,850,753 (GRCm39) G524S probably benign Het
Slc5a7 A G 17: 54,591,221 (GRCm39) V237A probably benign Het
Spink7 T C 18: 62,727,356 (GRCm39) D56G probably damaging Het
Syn3 A G 10: 86,303,063 (GRCm39) S31P probably damaging Het
Tesl1 A T X: 23,773,710 (GRCm39) T404S probably benign Het
Thrb C A 14: 18,008,606 (GRCm38) P110Q possibly damaging Het
Vmn2r76 G T 7: 85,877,879 (GRCm39) T506K probably benign Het
Vps45 A G 3: 95,938,354 (GRCm39) L486P probably benign Het
Zan G A 5: 137,444,473 (GRCm39) T1823M unknown Het
Zdhhc6 T A 19: 55,302,959 (GRCm39) Q14L probably benign Het
Zfp990 A T 4: 145,263,533 (GRCm39) N177I possibly damaging Het
Other mutations in Lin28b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02819:Lin28b APN 10 45,346,155 (GRCm39) start codon destroyed probably null 0.10
R0885:Lin28b UTSW 10 45,257,324 (GRCm39) missense probably damaging 1.00
R2407:Lin28b UTSW 10 45,257,183 (GRCm39) missense possibly damaging 0.95
R4962:Lin28b UTSW 10 45,296,736 (GRCm39) missense possibly damaging 0.90
R5523:Lin28b UTSW 10 45,345,164 (GRCm39) nonsense probably null
R7122:Lin28b UTSW 10 45,345,244 (GRCm39) missense probably benign 0.18
R7293:Lin28b UTSW 10 45,295,282 (GRCm39) missense probably benign
R8386:Lin28b UTSW 10 45,345,140 (GRCm39) missense probably damaging 1.00
Z1177:Lin28b UTSW 10 45,296,702 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16