Incidental Mutation 'R1600:Lyve1'
ID176093
Institutional Source Beutler Lab
Gene Symbol Lyve1
Ensembl Gene ENSMUSG00000030787
Gene Namelymphatic vessel endothelial hyaluronan receptor 1
Synonymslymphatic vessel endothelial HA receptor-1, Xlkd1, 1200012G08Rik, Lyve-1
MMRRC Submission 039637-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R1600 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location110850607-110863239 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 110853695 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033050]
Predicted Effect probably null
Transcript: ENSMUST00000033050
SMART Domains Protein: ENSMUSP00000033050
Gene: ENSMUSG00000030787

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LINK 37 129 2.49e-27 SMART
low complexity region 160 173 N/A INTRINSIC
transmembrane domain 232 254 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209319
Meta Mutation Damage Score 0.9483 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 85% (41/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele display enlarged lymphatic vessels and increased interstitial-lymphatic flow. However, mice homozygous for a second allele do not display any abnormalities in the lymphatic system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,643,717 probably benign Het
Acot3 C T 12: 84,058,710 A317V probably benign Het
Ahrr T C 13: 74,214,378 D334G probably benign Het
Alpk2 C T 18: 65,378,037 V30M probably damaging Het
Arhgef25 G T 10: 127,185,289 H281N probably damaging Het
B3gntl1 A G 11: 121,630,836 M175T probably damaging Het
BC080695 A G 4: 143,571,967 E160G possibly damaging Het
Brca2 T A 5: 150,560,830 probably benign Het
Ccnj A T 19: 40,844,657 probably benign Het
Cebpzos A G 17: 78,918,388 K11E probably damaging Het
Col6a6 A G 9: 105,778,075 S816P probably damaging Het
Cul4a A G 8: 13,123,954 R64G probably damaging Het
Cul7 C A 17: 46,651,822 C126* probably null Het
Ercc2 T C 7: 19,385,941 Y176H probably benign Het
Frem2 T G 3: 53,547,723 D2144A probably damaging Het
Gabrg3 A T 7: 56,735,074 Y246* probably null Het
Gm21731 T C 13: 120,240,833 V55A probably benign Het
Gpatch2l T C 12: 86,256,934 probably null Het
Grk1 A G 8: 13,405,406 T97A probably benign Het
Hmcn2 A G 2: 31,430,787 E4004G probably damaging Het
Kcnu1 A T 8: 25,849,793 R46S probably damaging Het
Lrrfip1 T C 1: 91,114,667 S265P probably damaging Het
Mme A G 3: 63,365,058 Y659C probably damaging Het
Mrs2 G T 13: 24,995,410 N299K possibly damaging Het
Mtnr1b T C 9: 15,863,319 Y148C probably damaging Het
Myo5b T A 18: 74,713,540 probably benign Het
Neb A G 2: 52,271,604 Y2059H probably damaging Het
Nkain3 T C 4: 20,469,528 probably benign Het
Peg10 A T 6: 4,757,080 probably benign Het
Rufy2 A G 10: 63,006,671 T458A probably benign Het
Sec14l1 G A 11: 117,150,604 V448I probably benign Het
Tbx19 C T 1: 165,142,567 G251D possibly damaging Het
Trappc9 G A 15: 72,937,109 Q711* probably null Het
Trpm3 A G 19: 22,139,155 R13G probably benign Het
Usp33 G T 3: 152,379,610 A628S probably damaging Het
Vps13a T C 19: 16,666,272 N2080S probably benign Het
Wdr45b A T 11: 121,330,189 I221N probably damaging Het
Zfp119a A T 17: 55,868,355 W47R possibly damaging Het
Zswim9 A G 7: 13,269,571 C118R probably damaging Het
Other mutations in Lyve1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0465:Lyve1 UTSW 7 110852827 critical splice donor site probably null
R4553:Lyve1 UTSW 7 110852360 critical splice acceptor site probably null
R8036:Lyve1 UTSW 7 110859442 missense probably damaging 1.00
R8809:Lyve1 UTSW 7 110853792 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCATGAAGTGTCACCTGACCC -3'
(R):5'- TTTTCTGTCAGCAGCAGCGCCTAC -3'

Sequencing Primer
(F):5'- AGTGTCACCTGACCCTTGAAG -3'
(R):5'- AGCGCCTACTTGGCTTC -3'
Posted On2014-04-24