Incidental Mutation 'IGL03195:Lif'
ID412791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lif
Ensembl Gene ENSMUSG00000034394
Gene Nameleukemia inhibitory factor
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.303) question?
Stock #IGL03195
Quality Score
Status
Chromosome11
Chromosomal Location4257557-4272514 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4269201 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 160 (Y160F)
Ref Sequence ENSEMBL: ENSMUSP00000067066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040750] [ENSMUST00000066283]
PDB Structure
LEUKAEMIA INHIBITORY FACTOR CHIMERA (MH35-LIF), NMR, 20 STRUCTURES [SOLUTION NMR]
THE CRYSTAL STRUCTURE AND BIOLOGICAL FUNCTION OF LEUKEMIA INHIBITORY FACTOR: IMPLICATIONS FOR RECEPTOR BINDING [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000040750
AA Change: Y115F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000036853
Gene: ENSMUSG00000034394
AA Change: Y115F

DomainStartEndE-ValueType
LIF_OSM 1 147 1.76e-93 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066283
AA Change: Y160F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067066
Gene: ENSMUSG00000034394
AA Change: Y160F

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LIF_OSM 35 192 1.54e-107 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154927
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 is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for targeted null mutations have reduced numbers of stem cells in spleen and bone marrow, enhanced inflammatory responses, impaired sensory neuron regrowth, and uterine insufficiency. Heterozygotes show intermediate numbers of stem cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Gm595 T A X: 48,872,948 Q296L possibly damaging Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Lif
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1137:Lif UTSW 11 4269237 missense probably damaging 1.00
R2120:Lif UTSW 11 4269051 missense possibly damaging 0.93
R6238:Lif UTSW 11 4268940 missense possibly damaging 0.88
R6302:Lif UTSW 11 4268924 missense probably damaging 1.00
Posted On2016-08-02