Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03195:Lif'

412791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lif

Ensembl Gene

ENSMUSG00000034394

Gene Name

leukemia inhibitory factor

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

IGL03195

Quality Score

Status

Chromosome

Chromosomal Location

4257557-4272514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4269201 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2016-08-02