Incidental Mutation 'IGL02371:Lzts1'
ID290927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lzts1
Ensembl Gene ENSMUSG00000036306
Gene Nameleucine zipper, putative tumor suppressor 1
SynonymsFEZ1, F37
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02371
Quality Score
Status
Chromosome8
Chromosomal Location69132669-69184225 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 69138798 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 233 (S233T)
Ref Sequence ENSEMBL: ENSMUSP00000139117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037049] [ENSMUST00000185176]
Predicted Effect probably damaging
Transcript: ENSMUST00000037049
AA Change: S233T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: S233T

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 damaging
Transcript: ENSMUST00000185176
AA Change: S233T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: S233T

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 T C 10: 18,646,539 T580A probably benign Het
Casp2 T A 6: 42,267,968 D100E probably benign Het
Cd1d1 C A 3: 86,998,881 R29L probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cyct A G 2: 76,354,090 *106R probably null Het
Enam A G 5: 88,502,809 I726V probably benign Het
Epha3 T G 16: 63,585,020 probably null Het
Erbb4 T C 1: 68,290,294 D632G probably benign Het
Fam217a T C 13: 34,911,401 N125S possibly damaging Het
Fbxo32 A T 15: 58,181,464 probably benign Het
Foxa1 T C 12: 57,542,700 T245A probably damaging Het
Gars T C 6: 55,065,467 V395A probably benign Het
Gimap5 A T 6: 48,753,003 N169I probably damaging Het
Itgav A G 2: 83,770,053 M266V probably damaging Het
Klhl14 G A 18: 21,652,181 S63F probably damaging Het
Lpp G A 16: 24,761,611 A26T probably damaging Het
Lrrc17 T C 5: 21,560,996 Y159H probably damaging Het
Mdn1 T C 4: 32,676,860 probably benign Het
Nrf1 A T 6: 30,118,991 I382F possibly damaging Het
Olfr1287 A G 2: 111,450,009 R290G probably damaging Het
Olfr24 G T 9: 18,754,704 S310R probably benign Het
Olfr266 A T 3: 106,822,046 F171Y probably damaging Het
Pde9a T A 17: 31,420,285 V63D possibly damaging Het
Plcg1 T A 2: 160,753,507 N484K probably damaging Het
Plekhg4 T A 8: 105,379,059 probably null Het
Pot1b A G 17: 55,695,092 Y161H possibly damaging Het
Ptchd4 G A 17: 42,316,974 G109S possibly damaging Het
Rad51ap1 T C 6: 126,927,564 N119S probably benign Het
Rbm22 C T 18: 60,571,956 probably benign Het
Stk36 T A 1: 74,622,255 S480R probably benign Het
Ugt2b5 A T 5: 87,127,676 probably null Het
Other mutations in Lzts1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Lzts1 APN 8 69136092 missense probably benign 0.07
IGL01313:Lzts1 APN 8 69139107 missense probably benign 0.11
IGL02508:Lzts1 APN 8 69140848 nonsense probably null
IGL03238:Lzts1 APN 8 69138794 missense probably damaging 1.00
R0645:Lzts1 UTSW 8 69135740 missense possibly damaging 0.92
R1442:Lzts1 UTSW 8 69138986 missense probably damaging 0.99
R1887:Lzts1 UTSW 8 69138833 missense probably damaging 1.00
R2366:Lzts1 UTSW 8 69140605 splice site probably null
R4238:Lzts1 UTSW 8 69135927 missense possibly damaging 0.61
R4489:Lzts1 UTSW 8 69135695 missense possibly damaging 0.94
R4508:Lzts1 UTSW 8 69135618 missense probably benign 0.00
R4965:Lzts1 UTSW 8 69138762 missense probably benign 0.44
R5159:Lzts1 UTSW 8 69138584 missense probably benign 0.44
R5643:Lzts1 UTSW 8 69139077 missense possibly damaging 0.94
R5644:Lzts1 UTSW 8 69139077 missense possibly damaging 0.94
R5782:Lzts1 UTSW 8 69140698 missense probably benign 0.00
R6146:Lzts1 UTSW 8 69140872 missense probably benign 0.01
R7069:Lzts1 UTSW 8 69140745 missense probably damaging 1.00
R7444:Lzts1 UTSW 8 69135679 missense probably damaging 1.00
Posted On2015-04-16