Incidental Mutation 'IGL01313:Lzts1'
ID 73753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lzts1
Ensembl Gene ENSMUSG00000036306
Gene Name leucine zipper, putative tumor suppressor 1
Synonyms FEZ1, PSD-Zip70, F37
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01313
Quality Score
Status
Chromosome 8
Chromosomal Location 69585321-69636877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69591759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 130 (V130L)
Ref Sequence ENSEMBL: ENSMUSP00000139117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037049] [ENSMUST00000185176]
AlphaFold P60853
Predicted Effect probably benign
Transcript: ENSMUST00000037049
AA Change: V130L

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: V130L

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
low complexity region 305 350 N/A INTRINSIC
Pfam:Fez1 378 568 3.9e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185176
AA Change: V130L

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: V130L

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
low complexity region 305 350 N/A INTRINSIC
Pfam:Fez1 378 569 2.3e-79 PFAM
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 tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009]
PHENOTYPE: Heterozygous or homozygous inactivation of this gene leads to increased incidence of spontaneous and carcinogen-induced tumors. Homozygtes for a null allele show working memory and cognitive deficits, enhanced anxiety, defects in glutamatergic synaptic transmission, and impaired spine maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,621,969 (GRCm39) probably null Het
Abca7 T A 10: 79,838,957 (GRCm39) probably benign Het
Acvr1c T G 2: 58,205,986 (GRCm39) Q41H probably benign Het
Apob A T 12: 8,050,898 (GRCm39) N1041Y probably damaging Het
Asb5 A T 8: 55,038,798 (GRCm39) probably benign Het
Asxl3 A T 18: 22,650,516 (GRCm39) E835V probably benign Het
Ccdc73 A T 2: 104,737,972 (GRCm39) M23L probably benign Het
Cep170b G A 12: 112,702,086 (GRCm39) R293H probably damaging Het
Chd8 C A 14: 52,448,032 (GRCm39) L316F probably damaging Het
Cldn13 T C 5: 134,944,114 (GRCm39) S24G possibly damaging Het
Cnot10 A T 9: 114,460,923 (GRCm39) N82K probably benign Het
Colec10 G A 15: 54,323,157 (GRCm39) V127M probably damaging Het
Cyp2d40 T C 15: 82,645,478 (GRCm39) S130G unknown Het
Ddx60 T A 8: 62,435,560 (GRCm39) H904Q probably damaging Het
Dnaaf11 A T 15: 66,252,362 (GRCm39) S435T probably benign Het
Dnajc2 T C 5: 21,979,974 (GRCm39) N177S possibly damaging Het
F5 G T 1: 164,021,181 (GRCm39) V1219L probably benign Het
Fam47c G T X: 77,781,454 (GRCm39) R12L probably damaging Het
Fat4 T C 3: 39,061,350 (GRCm39) I4311T possibly damaging Het
Fbf1 A G 11: 116,041,907 (GRCm39) V545A probably benign Het
Fhod3 G A 18: 25,153,777 (GRCm39) E420K probably damaging Het
Ikzf2 T C 1: 69,578,589 (GRCm39) K162E probably damaging Het
Insl6 C A 19: 29,298,953 (GRCm39) S153I possibly damaging Het
Kcnh8 A G 17: 53,141,708 (GRCm39) Y317C probably damaging Het
Mill1 T C 7: 17,998,558 (GRCm39) I256T possibly damaging Het
Mycbpap A C 11: 94,400,145 (GRCm39) probably null Het
Or6c65 A G 10: 129,603,464 (GRCm39) Y33C probably damaging Het
Pdia6 T A 12: 17,320,542 (GRCm39) probably benign Het
Pik3c2b C T 1: 132,999,369 (GRCm39) Q406* probably null Het
Pkhd1 C A 1: 20,271,248 (GRCm39) G3102C probably damaging Het
Polr3b T A 10: 84,561,607 (GRCm39) I1122N probably damaging Het
Ryr2 T A 13: 11,653,371 (GRCm39) probably null Het
Samhd1 A G 2: 156,958,321 (GRCm39) I300T probably damaging Het
Skint5 T A 4: 113,662,361 (GRCm39) I609F unknown Het
Slc27a3 G T 3: 90,293,861 (GRCm39) T541K probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Sv2c C T 13: 96,224,797 (GRCm39) V171M probably damaging Het
Tenm2 A G 11: 35,915,075 (GRCm39) V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 (GRCm39) I433F probably benign Het
Thoc2 A T X: 40,916,223 (GRCm39) V865D probably benign Het
Trdn C A 10: 33,076,216 (GRCm39) P282Q probably damaging Het
Twsg1 C A 17: 66,255,699 (GRCm39) C25F probably damaging Het
Usp34 T A 11: 23,423,206 (GRCm39) I3155N probably damaging Het
Vmn2r106 T A 17: 20,498,651 (GRCm39) Q420L probably damaging Het
Vmn2r109 C T 17: 20,770,419 (GRCm39) R523K probably damaging Het
Other mutations in Lzts1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Lzts1 APN 8 69,588,744 (GRCm39) missense probably benign 0.07
IGL02371:Lzts1 APN 8 69,591,450 (GRCm39) missense probably damaging 0.99
IGL02508:Lzts1 APN 8 69,593,500 (GRCm39) nonsense probably null
IGL03238:Lzts1 APN 8 69,591,446 (GRCm39) missense probably damaging 1.00
R0645:Lzts1 UTSW 8 69,588,392 (GRCm39) missense possibly damaging 0.92
R1442:Lzts1 UTSW 8 69,591,638 (GRCm39) missense probably damaging 0.99
R1887:Lzts1 UTSW 8 69,591,485 (GRCm39) missense probably damaging 1.00
R2366:Lzts1 UTSW 8 69,593,257 (GRCm39) splice site probably null
R4238:Lzts1 UTSW 8 69,588,579 (GRCm39) missense possibly damaging 0.61
R4489:Lzts1 UTSW 8 69,588,347 (GRCm39) missense possibly damaging 0.94
R4508:Lzts1 UTSW 8 69,588,270 (GRCm39) missense probably benign 0.00
R4965:Lzts1 UTSW 8 69,591,414 (GRCm39) missense probably benign 0.44
R5159:Lzts1 UTSW 8 69,591,236 (GRCm39) missense probably benign 0.44
R5643:Lzts1 UTSW 8 69,591,729 (GRCm39) missense possibly damaging 0.94
R5644:Lzts1 UTSW 8 69,591,729 (GRCm39) missense possibly damaging 0.94
R5782:Lzts1 UTSW 8 69,593,350 (GRCm39) missense probably benign 0.00
R6146:Lzts1 UTSW 8 69,593,524 (GRCm39) missense probably benign 0.01
R7069:Lzts1 UTSW 8 69,593,397 (GRCm39) missense probably damaging 1.00
R7444:Lzts1 UTSW 8 69,588,331 (GRCm39) missense probably damaging 1.00
R8088:Lzts1 UTSW 8 69,588,474 (GRCm39) missense probably benign 0.01
R8100:Lzts1 UTSW 8 69,593,397 (GRCm39) missense probably damaging 1.00
R9012:Lzts1 UTSW 8 69,593,550 (GRCm39) missense probably damaging 1.00
R9545:Lzts1 UTSW 8 69,591,286 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07