Incidental Mutation 'IGL00809:Lin28a'
ID 11768
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lin28a
Ensembl Gene ENSMUSG00000050966
Gene Name lin-28 homolog A
Synonyms Tex17, Lin28, Lin-28, Lin28a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00809
Quality Score
Status
Chromosome 4
Chromosomal Location 133730641-133746152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 133735367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 90 (G90S)
Ref Sequence ENSEMBL: ENSMUSP00000050488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051674] [ENSMUST00000176113] [ENSMUST00000176292] [ENSMUST00000176897]
AlphaFold Q8K3Y3
PDB Structure Mouse Lin28A in complex with let-7d microRNA pre-element [X-RAY DIFFRACTION]
Mouse Lin28A in complex with let-7f-1 microRNA pre-element [X-RAY DIFFRACTION]
Mouse Lin28A in complex with let-7g microRNA pre-element [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000051674
AA Change: G90S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: G90S

DomainStartEndE-ValueType
low complexity region 14 35 N/A INTRINSIC
CSP 41 112 5.63e-14 SMART
ZnF_C2HC 138 154 1.91e-2 SMART
ZnF_C2HC 160 176 4.92e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176113
AA Change: G10S

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135254
Gene: ENSMUSG00000050966
AA Change: G10S

DomainStartEndE-ValueType
Pfam:CSD 1 32 1.9e-7 PFAM
ZnF_C2HC 58 74 1.91e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176292
AA Change: G10S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135608
Gene: ENSMUSG00000050966
AA Change: G10S

DomainStartEndE-ValueType
Pfam:CSD 1 32 1.8e-7 PFAM
ZnF_C2HC 58 74 1.91e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176897
AA Change: G40S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135736
Gene: ENSMUSG00000050966
AA Change: G40S

DomainStartEndE-ValueType
Pfam:CSD 1 62 5.8e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a LIN-28 family RNA-binding protein that acts as a posttranscriptional regulator of genes involved in developmental timing and self-renewal in embryonic stem cells. The encoded protein functions through direct interaction with target mRNAs and by disrupting the maturation of certain miRNAs involved in embryonic development. This protein prevents the terminal processing of the LET7 family of microRNAs which are major regulators of cellular growth and differentiation. Aberrant expression of this gene is associated with cancer progression in multiple tissues. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth weight and postnatal lethality. In another report, mice homozygous for the same or an identical allele exhibit reduced premordial germ cells and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,983 (GRCm39) T113A possibly damaging Het
Akap10 T A 11: 61,805,897 (GRCm39) N277I possibly damaging Het
Ankrd24 A T 10: 81,478,901 (GRCm39) probably benign Het
Bfsp2 T C 9: 103,330,297 (GRCm39) E180G possibly damaging Het
Cd55 A T 1: 130,380,248 (GRCm39) Y243* probably null Het
Col17a1 G T 19: 47,669,842 (GRCm39) H103Q probably damaging Het
Diaph3 A T 14: 87,237,463 (GRCm39) H311Q probably damaging Het
Dnah1 G A 14: 31,022,766 (GRCm39) Q1124* probably null Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fzr1 G T 10: 81,206,359 (GRCm39) S137* probably null Het
Gnl3 A G 14: 30,736,146 (GRCm39) I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,443,993 (GRCm39) G65S probably damaging Het
Hsd17b7 A T 1: 169,793,324 (GRCm39) Y88* probably null Het
Itga2 C A 13: 115,014,161 (GRCm39) A256S probably damaging Het
Itga7 T C 10: 128,775,038 (GRCm39) probably null Het
Ivl T A 3: 92,479,819 (GRCm39) Q82L possibly damaging Het
Lkaaear1 A T 2: 181,339,127 (GRCm39) S108T probably benign Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Osbpl9 C T 4: 108,990,960 (GRCm39) R100H probably damaging Het
Pals2 C T 6: 50,173,569 (GRCm39) R478C probably benign Het
Pclo T A 5: 14,725,811 (GRCm39) D1556E unknown Het
Phip G A 9: 82,753,356 (GRCm39) S1796F probably damaging Het
Phtf1 T C 3: 103,895,983 (GRCm39) S226P probably benign Het
Rapgef6 C A 11: 54,540,126 (GRCm39) Q734K probably damaging Het
Scn9a A T 2: 66,314,279 (GRCm39) I1802N probably damaging Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Stab2 A T 10: 86,684,038 (GRCm39) probably benign Het
Trpc7 T C 13: 56,970,301 (GRCm39) I373V probably benign Het
Ttbk2 T A 2: 120,590,750 (GRCm39) D303V probably damaging Het
Ylpm1 T C 12: 85,095,968 (GRCm39) I1163T probably damaging Het
Other mutations in Lin28a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01515:Lin28a APN 4 133,746,020 (GRCm39) critical splice donor site probably null
IGL01725:Lin28a APN 4 133,735,241 (GRCm39) nonsense probably null
R0659:Lin28a UTSW 4 133,735,410 (GRCm39) splice site probably benign
R0730:Lin28a UTSW 4 133,735,319 (GRCm39) missense probably damaging 1.00
R2129:Lin28a UTSW 4 133,745,465 (GRCm39) missense probably benign 0.00
R3196:Lin28a UTSW 4 133,735,235 (GRCm39) missense possibly damaging 0.80
R4998:Lin28a UTSW 4 133,746,028 (GRCm39) missense possibly damaging 0.73
R5734:Lin28a UTSW 4 133,735,284 (GRCm39) nonsense probably null
R6540:Lin28a UTSW 4 133,745,372 (GRCm39) missense possibly damaging 0.85
R7012:Lin28a UTSW 4 133,746,040 (GRCm39) missense probably damaging 1.00
R7226:Lin28a UTSW 4 133,733,619 (GRCm39) missense probably damaging 1.00
R7972:Lin28a UTSW 4 133,733,574 (GRCm39) missense probably damaging 0.96
R8072:Lin28a UTSW 4 133,745,453 (GRCm39) missense possibly damaging 0.83
Posted On 2012-12-06