Incidental Mutation 'R8072:Lin28a'
ID 620281
Institutional Source Beutler Lab
Gene Symbol Lin28a
Ensembl Gene ENSMUSG00000050966
Gene Name lin-28 homolog A
Synonyms Tex17, Lin28, Lin-28, Lin28a
MMRRC Submission 067507-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8072 (G1)
Quality Score 168.009
Status Not validated
Chromosome 4
Chromosomal Location 133730641-133746152 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133745453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 47 (F47L)
Ref Sequence ENSEMBL: ENSMUSP00000050488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051674] [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 possibly damaging
Transcript: ENSMUST00000051674
AA Change: F47L

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: F47L

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 probably benign
Transcript: ENSMUST00000176897
SMART Domains Protein: ENSMUSP00000135736
Gene: ENSMUSG00000050966

DomainStartEndE-ValueType
Pfam:CSD 1 62 5.8e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,244,574 (GRCm39) S2146P probably benign Het
Acad9 G A 3: 36,129,404 (GRCm39) V160I probably benign Het
Ace T C 11: 105,863,785 (GRCm39) V411A probably damaging Het
Ankrd66 T C 17: 43,854,526 (GRCm39) E2G possibly damaging Het
Apol6 A T 15: 76,935,303 (GRCm39) T191S probably benign Het
Arhgef17 T A 7: 100,531,004 (GRCm39) T352S probably benign Het
Atad2 C T 15: 57,963,374 (GRCm39) R1081Q possibly damaging Het
Atg3 G T 16: 45,008,048 (GRCm39) V297F probably damaging Het
Atp9b A C 18: 80,808,276 (GRCm39) S663A Het
Col10a1 G T 10: 34,266,663 (GRCm39) V16F unknown Het
Col3a1 G A 1: 45,360,734 (GRCm39) V55I unknown Het
Ctns T C 11: 73,082,572 (GRCm39) T53A probably benign Het
Cyp2b23 A T 7: 26,365,431 (GRCm39) I468N probably damaging Het
Dcbld2 G A 16: 58,283,460 (GRCm39) W565* probably null Het
Esco2 A T 14: 66,070,130 (GRCm39) N16K probably benign Het
Fggy A G 4: 95,732,394 (GRCm39) N462D possibly damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,153,722 (GRCm39) probably benign Het
Gm4846 T C 1: 166,322,241 (GRCm39) T109A probably benign Het
H2-M11 G T 17: 36,859,026 (GRCm39) V189L probably benign Het
Hmcn1 T A 1: 150,532,256 (GRCm39) T3175S possibly damaging Het
Hook2 G A 8: 85,721,120 (GRCm39) V184M probably benign Het
Hspa4l A T 3: 40,741,178 (GRCm39) D730V probably damaging Het
Igkv4-68 C T 6: 69,282,113 (GRCm39) M19I probably benign Het
Igsf9b C A 9: 27,228,660 (GRCm39) T140N possibly damaging Het
Kcnj1 G A 9: 32,308,593 (GRCm39) R339Q probably damaging Het
Lcn8 T G 2: 25,545,184 (GRCm39) L118W probably damaging Het
Loxl4 T C 19: 42,596,021 (GRCm39) E144G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgprb1 C A 7: 48,097,895 (GRCm39) E6* probably null Het
Mthfsd A C 8: 121,825,555 (GRCm39) Y339D probably damaging Het
Mup11 A T 4: 60,615,777 (GRCm39) F153L probably damaging Het
Pcdhac2 G A 18: 37,278,717 (GRCm39) V566M probably benign Het
Plpp7 G T 2: 31,986,121 (GRCm39) A100S probably benign Het
Prg4 T C 1: 150,331,774 (GRCm39) T300A possibly damaging Het
Ptprd A G 4: 76,004,273 (GRCm39) F161L probably benign Het
Pwp2 G A 10: 78,007,930 (GRCm39) A875V possibly damaging Het
Rhd A G 4: 134,611,460 (GRCm39) T207A possibly damaging Het
Sh2d3c C T 2: 32,643,150 (GRCm39) R778C probably damaging Het
Slc34a3 A C 2: 25,119,289 (GRCm39) V527G probably benign Het
Smad2 T C 18: 76,420,022 (GRCm39) probably null Het
Sp110 GTACT GTACTACT 1: 85,515,207 (GRCm39) probably benign Het
Spata21 C T 4: 140,839,317 (GRCm39) Q611* probably null Het
Taf4b A G 18: 14,954,585 (GRCm39) T554A probably benign Het
Tial1 T C 7: 128,044,194 (GRCm39) T107A unknown Het
Ubxn6 C A 17: 56,380,195 (GRCm39) R42L probably benign Het
Vmn2r90 A T 17: 17,947,142 (GRCm39) N473I probably damaging Het
Ythdc1 T A 5: 86,969,133 (GRCm39) Y351* probably null Het
Other mutations in Lin28a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Lin28a APN 4 133,735,367 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TATCTCCTCCAATCCGACAGG -3'
(R):5'- CTTCTTACCAGCTGCTTGGTAG -3'

Sequencing Primer
(F):5'- ACAGGAGGGGCCACCAG -3'
(R):5'- GGCTGACCACCGAGATCTC -3'
Posted On 2020-01-23