Incidental Mutation 'R4508:Lzts1'
ID 331074
Institutional Source Beutler Lab
Gene Symbol Lzts1
Ensembl Gene ENSMUSG00000036306
Gene Name leucine zipper, putative tumor suppressor 1
Synonyms FEZ1, PSD-Zip70, F37
MMRRC Submission 041757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4508 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 69585321-69636877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69588270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 562 (R562H)
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: R562H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: R562H

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: R562H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: R562H

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
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 100% (50/50)
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
Abhd12 A G 2: 150,746,275 (GRCm39) probably benign Het
Amer3 A G 1: 34,627,380 (GRCm39) R540G probably benign Het
Ank C T 15: 27,565,063 (GRCm39) R255W probably damaging Het
Ank3 A C 10: 69,728,200 (GRCm39) I629L probably damaging Het
Arhgap11a T A 2: 113,672,387 (GRCm39) N194Y probably damaging Het
BB014433 T C 8: 15,092,095 (GRCm39) T253A possibly damaging Het
Ccdc40 C A 11: 119,133,335 (GRCm39) D534E probably damaging Het
Chrna2 C A 14: 66,383,902 (GRCm39) N106K probably damaging Het
Clec2f C A 6: 128,997,474 (GRCm39) noncoding transcript Het
Cnnm2 G A 19: 46,865,709 (GRCm39) D766N probably benign Het
Ctc1 A G 11: 68,906,943 (GRCm39) probably null Het
Ddc C T 11: 11,769,393 (GRCm39) probably null Het
Doc2g G A 19: 4,054,036 (GRCm39) probably benign Het
Ep400 T C 5: 110,851,481 (GRCm39) T1334A unknown Het
Epdr1 T C 13: 19,778,659 (GRCm39) I44V probably benign Het
Fbp2 A T 13: 62,989,679 (GRCm39) I209N probably damaging Het
Garin1b T C 6: 29,323,764 (GRCm39) V163A probably benign Het
Get1 T A 16: 95,946,899 (GRCm39) probably benign Het
Gldc G T 19: 30,120,807 (GRCm39) Q375K probably damaging Het
Hc A C 2: 34,903,077 (GRCm39) V1058G possibly damaging Het
Hydin T A 8: 111,245,886 (GRCm39) S2200T possibly damaging Het
Kcnc1 C T 7: 46,077,712 (GRCm39) P505S probably benign Het
Kifc3 T C 8: 95,834,048 (GRCm39) probably null Het
Klhl10 A G 11: 100,333,002 (GRCm39) E49G possibly damaging Het
Lhx5 T C 5: 120,573,499 (GRCm39) S161P probably damaging Het
Lilra6 G T 7: 3,915,028 (GRCm39) Y455* probably null Het
Muc6 G A 7: 141,226,356 (GRCm39) probably benign Het
Ogfod2 C T 5: 124,251,317 (GRCm39) Q74* probably null Het
Or4f56 A C 2: 111,703,947 (GRCm39) D84E probably damaging Het
Or5h17 T A 16: 58,820,138 (GRCm39) V30E probably benign Het
Polr2a T C 11: 69,633,385 (GRCm39) probably null Het
Ptpre T C 7: 135,270,832 (GRCm39) L329P probably damaging Het
Rnh1 T C 7: 140,744,456 (GRCm39) Q73R possibly damaging Het
Scly G A 1: 91,236,047 (GRCm39) V100I possibly damaging Het
Sos2 A T 12: 69,682,435 (GRCm39) L261* probably null Het
Sp1 A C 15: 102,317,747 (GRCm39) Q422P possibly damaging Het
Sp3 A T 2: 72,800,741 (GRCm39) F468Y probably damaging Het
Tenm2 T C 11: 35,899,172 (GRCm39) Y2662C possibly damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tmprss2 C A 16: 97,371,627 (GRCm39) G281C probably damaging Het
Tmprss6 A T 15: 78,343,978 (GRCm39) Y183N probably damaging Het
Ttn A T 2: 76,580,684 (GRCm39) L23403Q probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r90 T C 7: 14,296,084 (GRCm39) N5D probably benign Het
Vps13b A G 15: 35,709,819 (GRCm39) D1922G possibly damaging Het
Other mutations in Lzts1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Lzts1 APN 8 69,588,744 (GRCm39) missense probably benign 0.07
IGL01313:Lzts1 APN 8 69,591,759 (GRCm39) missense probably benign 0.11
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
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
Predicted Primers PCR Primer
(F):5'- GTCTCTTTGAACAGGCTCAGC -3'
(R):5'- GGTTGGGCTCACTTTCTCAG -3'

Sequencing Primer
(F):5'- AGCCCTCCCTGCTTTCTGG -3'
(R):5'- GGGCTCACTTTCTCAGAGGACATC -3'
Posted On 2015-07-21