Incidental Mutation 'R5734:Lin28a'
ID 451578
Institutional Source Beutler Lab
Gene Symbol Lin28a
Ensembl Gene ENSMUSG00000050966
Gene Name lin-28 homolog A
Synonyms Tex17, Lin28, Lin-28, Lin28a
MMRRC Submission 043348-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5734 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 133730641-133746152 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 133735284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 67 (C67*)
Ref Sequence ENSEMBL: ENSMUSP00000135736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051674] [ENSMUST00000176113] [ENSMUST00000176292] [ENSMUST00000176897]
AlphaFold Q8K3Y3
Predicted Effect probably null
Transcript: ENSMUST00000051674
AA Change: C117*
SMART Domains Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: C117*

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 null
Transcript: ENSMUST00000176113
AA Change: C37*
SMART Domains Protein: ENSMUSP00000135254
Gene: ENSMUSG00000050966
AA Change: C37*

DomainStartEndE-ValueType
Pfam:CSD 1 32 1.9e-7 PFAM
ZnF_C2HC 58 74 1.91e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000176292
AA Change: C37*
SMART Domains Protein: ENSMUSP00000135608
Gene: ENSMUSG00000050966
AA Change: C37*

DomainStartEndE-ValueType
Pfam:CSD 1 32 1.8e-7 PFAM
ZnF_C2HC 58 74 1.91e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000176897
AA Change: C67*
SMART Domains Protein: ENSMUSP00000135736
Gene: ENSMUSG00000050966
AA Change: C67*

DomainStartEndE-ValueType
Pfam:CSD 1 62 5.8e-15 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A G 9: 46,215,303 (GRCm39) probably benign Het
Abcc9 A G 6: 142,571,457 (GRCm39) probably benign Het
Adamts2 G A 11: 50,679,494 (GRCm39) G825R probably damaging Het
Adgre1 A T 17: 57,750,990 (GRCm39) R555W probably benign Het
Apob T A 12: 8,038,781 (GRCm39) V398D probably damaging Het
Arid4b A G 13: 14,334,856 (GRCm39) N355S probably benign Het
Asb3 G T 11: 30,979,021 (GRCm39) D143Y probably damaging Het
Birc6 G A 17: 74,925,419 (GRCm39) probably benign Het
Cacna1a A G 8: 85,310,360 (GRCm39) M1425V probably damaging Het
Capn9 A G 8: 125,332,583 (GRCm39) E474G probably damaging Het
Capza2 T C 6: 17,660,764 (GRCm39) S155P probably damaging Het
Ccdc125 A G 13: 100,823,622 (GRCm39) N202S possibly damaging Het
Ccn1 A G 3: 145,354,023 (GRCm39) C256R probably damaging Het
Chrm5 T A 2: 112,310,445 (GRCm39) T224S probably benign Het
Chtop C T 3: 90,409,422 (GRCm39) probably null Het
Clip1 T C 5: 123,753,217 (GRCm39) probably benign Het
Dbx2 T C 15: 95,552,604 (GRCm39) T14A possibly damaging Het
Dcaf8 T C 1: 172,000,478 (GRCm39) V212A possibly damaging Het
Fam114a1 T C 5: 65,166,389 (GRCm39) M240T probably damaging Het
Fat1 T C 8: 45,504,246 (GRCm39) Y4580H probably damaging Het
Glipr1 G A 10: 111,821,698 (GRCm39) R200* probably null Het
Gm6408 A T 5: 146,419,192 (GRCm39) Y69F probably benign Het
Gpt2 T C 8: 86,249,885 (GRCm39) S456P probably benign Het
Kat8 T C 7: 127,519,751 (GRCm39) F225S probably benign Het
Lactb2 T A 1: 13,730,611 (GRCm39) N22Y probably damaging Het
Mtarc2 T C 1: 184,564,786 (GRCm39) E155G probably benign Het
Myoz3 G A 18: 60,712,543 (GRCm39) T104M possibly damaging Het
Nek9 C T 12: 85,350,289 (GRCm39) M928I probably benign Het
Nlrp9a G C 7: 26,270,065 (GRCm39) A831P probably damaging Het
Nop53 T C 7: 15,679,887 (GRCm39) probably null Het
Ofcc1 T A 13: 40,241,325 (GRCm39) T728S probably damaging Het
Pabpc4l T A 3: 46,401,124 (GRCm39) probably null Het
Rbm34 T C 8: 127,696,880 (GRCm39) probably null Het
Relch T C 1: 105,631,608 (GRCm39) probably benign Het
Robo2 C T 16: 74,149,672 (GRCm39) C52Y probably damaging Het
Rpgr G A X: 10,032,511 (GRCm39) P857L probably benign Het
Scn2a A G 2: 65,548,066 (GRCm39) Y57C possibly damaging Het
Selp C T 1: 163,971,460 (GRCm39) probably benign Het
Skp2 T C 15: 9,139,566 (GRCm39) D43G possibly damaging Het
Smad5 T A 13: 56,871,617 (GRCm39) S71T probably damaging Het
Sorcs1 G T 19: 50,171,213 (GRCm39) H892N probably benign Het
Sox6 C T 7: 115,140,856 (GRCm39) probably null Het
St3gal1 A T 15: 66,978,522 (GRCm39) I333N probably damaging Het
Tex15 C A 8: 34,036,364 (GRCm39) Q97K probably benign Het
Tnxb A T 17: 34,917,884 (GRCm39) T2266S possibly damaging Het
Tpbgl C A 7: 99,274,949 (GRCm39) G303C probably damaging Het
Trat1 A T 16: 48,555,304 (GRCm39) S143T possibly damaging Het
Trpm8 T A 1: 88,283,002 (GRCm39) V763E probably benign Het
Ttc21a G A 9: 119,795,732 (GRCm39) D1189N probably benign Het
Usp7 T C 16: 8,519,845 (GRCm39) N178D possibly damaging Het
Zfp217 T C 2: 169,961,064 (GRCm39) D421G possibly damaging Het
Zfp382 T C 7: 29,833,855 (GRCm39) F502S probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCACGCGTAAATTATCTTTGGC -3'
(R):5'- AGGTATGTGCTGCCATCCTC -3'

Sequencing Primer
(F):5'- ATCTTTGGCAATGGGATCCAAG -3'
(R):5'- GAGTCCATTTTCCCATCTGTGAG -3'
Posted On 2017-01-03