Incidental Mutation 'R1137:Lif'
ID 95192
Institutional Source Beutler Lab
Gene Symbol Lif
Ensembl Gene ENSMUSG00000034394
Gene Name leukemia inhibitory factor
Synonyms
MMRRC Submission 039210-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R1137 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 4207587-4222514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4219237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 172 (D172G)
Ref Sequence ENSEMBL: ENSMUSP00000067066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040750] [ENSMUST00000066283]
AlphaFold P09056
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 damaging
Transcript: ENSMUST00000040750
AA Change: D127G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036853
Gene: ENSMUSG00000034394
AA Change: D127G

DomainStartEndE-ValueType
LIF_OSM 1 147 1.76e-93 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066283
AA Change: D172G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067066
Gene: ENSMUSG00000034394
AA Change: D172G

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
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
2410002F23Rik T A 7: 43,900,256 (GRCm39) S54T probably benign Het
Ahdc1 A G 4: 132,789,424 (GRCm39) T222A possibly damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Cep250 A G 2: 155,832,760 (GRCm39) K1561E probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Clca4a A G 3: 144,676,446 (GRCm39) V78A probably damaging Het
Clec4n G A 6: 123,223,526 (GRCm39) M170I possibly damaging Het
Cp G T 3: 20,033,116 (GRCm39) A648S probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dnah8 A G 17: 31,074,910 (GRCm39) D4543G probably damaging Het
Elp3 A G 14: 65,785,370 (GRCm39) V477A probably damaging Het
Exoc6b A G 6: 84,885,205 (GRCm39) S245P probably benign Het
Fkbp9 G T 6: 56,837,682 (GRCm39) G312V probably damaging Het
Htr4 A G 18: 62,570,624 (GRCm39) I226M probably damaging Het
Impa2 G A 18: 67,451,497 (GRCm39) V264I probably benign Het
Kif20b T C 19: 34,914,486 (GRCm39) probably null Het
Kmt2c C A 5: 25,515,981 (GRCm39) V2621F possibly damaging Het
Llgl1 C A 11: 60,595,559 (GRCm39) H82N probably benign Het
Lrwd1 T C 5: 136,162,273 (GRCm39) I162M probably benign Het
Mdn1 T A 4: 32,694,511 (GRCm39) I1078N probably damaging Het
Muc1 A T 3: 89,137,745 (GRCm39) T196S probably benign Het
Myh7b T C 2: 155,464,634 (GRCm39) L657P probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Ppp1cb T C 5: 32,645,015 (GRCm39) M55T probably damaging Het
Ppp1r9a T C 6: 5,159,697 (GRCm39) M1078T possibly damaging Het
Rarg T C 15: 102,149,595 (GRCm39) T125A probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Slc5a7 G A 17: 54,600,039 (GRCm39) R125C probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tigit G T 16: 43,469,485 (GRCm39) T202N probably benign Het
Tmem132b C T 5: 125,860,606 (GRCm39) A617V possibly damaging Het
Tpm1 T C 9: 66,938,400 (GRCm39) probably null Het
Ubr3 A G 2: 69,768,659 (GRCm39) probably benign Het
Vcan T A 13: 89,852,422 (GRCm39) D846V probably damaging Het
Vmn1r16 T G 6: 57,300,221 (GRCm39) N134H probably damaging Het
Other mutations in Lif
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03195:Lif APN 11 4,219,201 (GRCm39) missense probably damaging 1.00
R2120:Lif UTSW 11 4,219,051 (GRCm39) missense possibly damaging 0.93
R6238:Lif UTSW 11 4,218,940 (GRCm39) missense possibly damaging 0.88
R6302:Lif UTSW 11 4,218,924 (GRCm39) missense probably damaging 1.00
R8946:Lif UTSW 11 4,219,225 (GRCm39) missense possibly damaging 0.63
R9355:Lif UTSW 11 4,219,044 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTATCGGATGGTCGCATACCTGAG -3'
(R):5'- GTGCAGTGAGTACCTGGAAATCCC -3'

Sequencing Primer
(F):5'- GCATACCTGAGCGCCTC -3'
(R):5'- CCCCAGCACATTTTGAGC -3'
Posted On 2014-01-05