Incidental Mutation 'IGL01725:Lin28a'
ID105251
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lin28a
Ensembl Gene ENSMUSG00000050966
Gene Namelin-28 homolog A (C. elegans)
SynonymsLin-28, Tex17, Lin28a, Lin28
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01725
Quality Score
Status
Chromosome4
Chromosomal Location134003330-134018841 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 134007930 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 52 (R52*)
Ref Sequence ENSEMBL: ENSMUSP00000135608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051674] [ENSMUST00000176113] [ENSMUST00000176292] [ENSMUST00000176897]
Predicted Effect probably null
Transcript: ENSMUST00000051674
AA Change: R132*
SMART Domains Protein: ENSMUSP00000050488
Gene: ENSMUSG00000050966
AA Change: R132*

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: R52*
SMART Domains Protein: ENSMUSP00000135254
Gene: ENSMUSG00000050966
AA Change: R52*

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: R52*
SMART Domains Protein: ENSMUSP00000135608
Gene: ENSMUSG00000050966
AA Change: R52*

DomainStartEndE-ValueType
Pfam:CSD 1 32 1.8e-7 PFAM
ZnF_C2HC 58 74 1.91e-2 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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,269 I297F probably damaging Het
Abcc4 A T 14: 118,500,829 L1170I probably damaging Het
Ankhd1 A G 18: 36,648,153 D2086G probably benign Het
Arhgap11a A T 2: 113,837,552 V368D probably damaging Het
Ccdc138 A G 10: 58,528,923 T334A possibly damaging Het
Ctnna2 T C 6: 77,641,365 R205G possibly damaging Het
Galnt4 A G 10: 99,109,957 M515V probably damaging Het
Grhl1 T C 12: 24,609,748 probably benign Het
Hfm1 T C 5: 106,917,379 T145A probably benign Het
Kntc1 G A 5: 123,764,190 V299I probably benign Het
Mast4 A T 13: 102,750,512 probably null Het
Nme4 G A 17: 26,092,066 A175V probably benign Het
Olfr376 A T 11: 73,375,156 M136L probably benign Het
Olfr615 T A 7: 103,561,075 Y199* probably null Het
Pi16 T A 17: 29,326,320 S186T probably damaging Het
Pigc T A 1: 161,971,345 probably benign Het
Rapgef4 A T 2: 72,174,874 I222L probably benign Het
Scap T A 9: 110,381,554 probably benign Het
Sec24a A C 11: 51,723,578 probably null Het
Sh3tc1 T C 5: 35,700,316 E1176G probably benign Het
Sidt1 A T 16: 44,284,282 D255E probably benign Het
Slc16a9 T C 10: 70,283,985 M486T probably benign Het
Slc28a3 A G 13: 58,578,510 F155S probably benign Het
Slc5a4a T C 10: 76,181,674 V435A probably benign Het
Stxbp5 T C 10: 9,817,411 R324G probably damaging Het
Tas2r120 C T 6: 132,657,089 R45* probably null Het
Tfcp2l1 T C 1: 118,668,636 V367A possibly damaging Het
Vmn2r116 A T 17: 23,386,645 D177V probably damaging Het
Vmn2r70 A G 7: 85,559,386 S628P probably damaging Het
Other mutations in Lin28a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Lin28a APN 4 134008056 missense probably damaging 1.00
IGL01515:Lin28a APN 4 134018709 critical splice donor site probably null
R0659:Lin28a UTSW 4 134008099 splice site probably benign
R0730:Lin28a UTSW 4 134008008 missense probably damaging 1.00
R2129:Lin28a UTSW 4 134018154 missense probably benign 0.00
R3196:Lin28a UTSW 4 134007924 missense possibly damaging 0.80
R4998:Lin28a UTSW 4 134018717 missense possibly damaging 0.73
R5734:Lin28a UTSW 4 134007973 nonsense probably null
R6540:Lin28a UTSW 4 134018061 missense possibly damaging 0.85
R7012:Lin28a UTSW 4 134018729 missense probably damaging 1.00
R7226:Lin28a UTSW 4 134006308 missense probably damaging 1.00
Posted On2014-01-21