Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01489:Lifr'

88804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lifr

Ensembl Gene

ENSMUSG00000054263

Gene Name

LIF receptor alpha

Synonyms

soluble differentiation-stimulating factor receptor, A230075M04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01489

Quality Score

Status

Chromosome

Chromosomal Location

7120095-7226970 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 7205037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067190] [ENSMUST00000164529] [ENSMUST00000171588] [ENSMUST00000226471] [ENSMUST00000226934] [ENSMUST00000227727]

AlphaFold

P42703

Predicted Effect

probably benign
Transcript: ENSMUST00000067190

SMART Domains

Protein: ENSMUSP00000064551
Gene: ENSMUSG00000054263

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Blast:FN3	45	118	5e-22	BLAST
FN3	328	399	1.86e1	SMART
FN3	425	515	9.77e-5	SMART
FN3	530	611	2.68e0	SMART
FN3	620	705	8.23e1	SMART
FN3	719	815	4.81e-4	SMART
transmembrane domain	830	852	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164529

SMART Domains

Protein: ENSMUSP00000131434
Gene: ENSMUSG00000054263

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Blast:FN3	45	118	4e-22	BLAST
FN3	328	399	1.86e1	SMART
FN3	425	515	9.77e-5	SMART
FN3	530	611	2.68e0	SMART
FN3	620	705	8.23e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171588

SMART Domains

Protein: ENSMUSP00000126137
Gene: ENSMUSG00000054263

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
Blast:FN3	45	118	5e-22	BLAST
FN3	328	399	1.86e1	SMART
FN3	425	515	9.77e-5	SMART
FN3	530	611	2.68e0	SMART
FN3	620	705	8.23e1	SMART
FN3	719	815	4.81e-4	SMART
transmembrane domain	830	852	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226471

Predicted Effect

probably benign
Transcript: ENSMUST00000226934

Predicted Effect

probably benign
Transcript: ENSMUST00000227727

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 protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die as neonates with reduced numbers of facial and spinal motor neurons, neurons of the nucleus ambiguus, and astrocytes. Mutants also show impaired placentation, severe osteopenia, and low hepatic glycogen stores. [provided by MGI curators]

Allele List at MGI

All alleles(22) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(19)

Other mutations in this stock

Total: 5 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Abcg2	T	G	6: 58,662,808 (GRCm39)	probably null	Het
Dgkb	T	C	12: 38,177,384 (GRCm39)	probably null	Het
Dock1	A	G	7: 134,601,050 (GRCm39)	probably benign	Het
Lhcgr	T	A	17: 89,072,401 (GRCm39)	probably benign	Het
Pdk2	T	C	11: 94,922,848 (GRCm39)	probably null	Het

Other mutations in Lifr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Lifr	APN	15	7,215,220 (GRCm39)	splice site	probably null
IGL01470:Lifr	APN	15	7,205,147 (GRCm39)	nonsense	probably null
IGL01619:Lifr	APN	15	7,220,643 (GRCm39)	missense	probably damaging	1.00
IGL01636:Lifr	APN	15	7,208,499 (GRCm39)	splice site	probably benign
IGL01943:Lifr	APN	15	7,217,630 (GRCm39)	missense	probably damaging	1.00
IGL02253:Lifr	APN	15	7,220,085 (GRCm39)	missense	probably damaging	1.00
IGL02355:Lifr	APN	15	7,194,174 (GRCm39)	critical splice donor site	probably null
IGL02362:Lifr	APN	15	7,194,174 (GRCm39)	critical splice donor site	probably null
IGL02450:Lifr	APN	15	7,220,246 (GRCm39)	missense	probably damaging	1.00
IGL02477:Lifr	APN	15	7,216,404 (GRCm39)	missense	probably damaging	1.00
IGL02503:Lifr	APN	15	7,215,104 (GRCm39)	missense	probably damaging	1.00
IGL02571:Lifr	APN	15	7,219,592 (GRCm39)	unclassified	probably benign
IGL03340:Lifr	APN	15	7,207,417 (GRCm39)	missense	probably benign	0.02
N/A - 535:Lifr	UTSW	15	7,216,434 (GRCm39)	missense	possibly damaging	0.80
R0012:Lifr	UTSW	15	7,205,089 (GRCm39)	missense	possibly damaging	0.78
R0015:Lifr	UTSW	15	7,217,667 (GRCm39)	splice site	probably null
R0102:Lifr	UTSW	15	7,208,373 (GRCm39)	missense	probably damaging	0.98
R0102:Lifr	UTSW	15	7,208,373 (GRCm39)	missense	probably damaging	0.98
R0305:Lifr	UTSW	15	7,206,982 (GRCm39)	missense	probably damaging	0.99
R0416:Lifr	UTSW	15	7,196,395 (GRCm39)	missense	probably damaging	1.00
R0440:Lifr	UTSW	15	7,186,672 (GRCm39)	nonsense	probably null
R0519:Lifr	UTSW	15	7,207,061 (GRCm39)	missense	probably damaging	1.00
R0595:Lifr	UTSW	15	7,206,950 (GRCm39)	missense	probably damaging	1.00
R0601:Lifr	UTSW	15	7,198,753 (GRCm39)	splice site	probably null
R0780:Lifr	UTSW	15	7,206,947 (GRCm39)	missense	probably benign	0.00
R0790:Lifr	UTSW	15	7,215,196 (GRCm39)	missense	probably benign	0.13
R1376:Lifr	UTSW	15	7,214,245 (GRCm39)	missense	probably benign	0.04
R1376:Lifr	UTSW	15	7,214,245 (GRCm39)	missense	probably benign	0.04
R1400:Lifr	UTSW	15	7,220,346 (GRCm39)	missense	probably benign	0.04
R1498:Lifr	UTSW	15	7,220,099 (GRCm39)	missense	probably damaging	0.99
R1785:Lifr	UTSW	15	7,211,337 (GRCm39)	missense	possibly damaging	0.89
R1786:Lifr	UTSW	15	7,211,337 (GRCm39)	missense	possibly damaging	0.89
R1906:Lifr	UTSW	15	7,217,612 (GRCm39)	missense	probably damaging	0.98
R2099:Lifr	UTSW	15	7,186,732 (GRCm39)	missense	probably benign
R2102:Lifr	UTSW	15	7,216,404 (GRCm39)	missense	probably damaging	1.00
R2136:Lifr	UTSW	15	7,211,338 (GRCm39)	missense	possibly damaging	0.89
R2511:Lifr	UTSW	15	7,196,397 (GRCm39)	missense	probably benign
R4375:Lifr	UTSW	15	7,196,379 (GRCm39)	missense	probably benign
R4883:Lifr	UTSW	15	7,215,106 (GRCm39)	missense	possibly damaging	0.94
R5681:Lifr	UTSW	15	7,220,565 (GRCm39)	missense	probably damaging	1.00
R5689:Lifr	UTSW	15	7,214,285 (GRCm39)	missense	probably damaging	1.00
R5693:Lifr	UTSW	15	7,205,041 (GRCm39)	missense	probably damaging	1.00
R5902:Lifr	UTSW	15	7,220,231 (GRCm39)	missense	probably benign
R5918:Lifr	UTSW	15	7,188,897 (GRCm39)	missense	probably benign	0.00
R5924:Lifr	UTSW	15	7,202,453 (GRCm39)	missense	probably benign	0.28
R6037:Lifr	UTSW	15	7,216,424 (GRCm39)	missense	probably damaging	1.00
R6037:Lifr	UTSW	15	7,216,424 (GRCm39)	missense	probably damaging	1.00
R6289:Lifr	UTSW	15	7,196,391 (GRCm39)	missense	probably benign	0.00
R6339:Lifr	UTSW	15	7,196,530 (GRCm39)	missense	probably benign	0.01
R6860:Lifr	UTSW	15	7,202,418 (GRCm39)	missense	probably benign	0.02
R7106:Lifr	UTSW	15	7,202,405 (GRCm39)	missense	probably benign	0.02
R7107:Lifr	UTSW	15	7,208,421 (GRCm39)	missense	possibly damaging	0.88
R7274:Lifr	UTSW	15	7,196,540 (GRCm39)	critical splice donor site	probably null
R7625:Lifr	UTSW	15	7,198,723 (GRCm39)	missense	probably damaging	0.99
R7631:Lifr	UTSW	15	7,214,258 (GRCm39)	missense	probably damaging	1.00
R7958:Lifr	UTSW	15	7,211,478 (GRCm39)	missense	possibly damaging	0.62
R7991:Lifr	UTSW	15	7,202,963 (GRCm39)	missense	possibly damaging	0.79
R8175:Lifr	UTSW	15	7,216,496 (GRCm39)	missense	probably damaging	1.00
R8427:Lifr	UTSW	15	7,220,462 (GRCm39)	missense	probably benign	0.01
R9274:Lifr	UTSW	15	7,217,591 (GRCm39)	missense	probably damaging	0.98
R9311:Lifr	UTSW	15	7,208,418 (GRCm39)	missense	possibly damaging	0.47
R9365:Lifr	UTSW	15	7,198,521 (GRCm39)	missense	probably damaging	1.00
R9509:Lifr	UTSW	15	7,188,955 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-11-18