Incidental Mutation 'IGL01065:Lzts1'
ID51709
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 #IGL01065
Quality Score
Status
Chromosome8
Chromosomal Location69132669-69184225 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69136092 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 404 (N404S)
Ref Sequence ENSEMBL: ENSMUSP00000139117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037049] [ENSMUST00000185176]
Predicted Effect probably benign
Transcript: ENSMUST00000037049
AA Change: N404S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: N404S

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: N404S

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: N404S

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Apob A G 12: 8,003,299 Y1247C probably damaging Het
Atg16l1 A T 1: 87,785,931 N401I probably damaging Het
Bcam T C 7: 19,756,799 H591R probably benign Het
Bcat1 T C 6: 145,000,289 S446G possibly damaging Het
C2cd5 A G 6: 143,078,279 S262P probably damaging Het
Clrn1 T C 3: 58,885,025 K6E probably damaging Het
D17H6S53E A T 17: 35,127,283 K57* probably null Het
Dennd1a T A 2: 37,844,905 I17F probably benign Het
Depdc7 A C 2: 104,722,081 Y460* probably null Het
Disp3 T C 4: 148,261,183 Y400C probably damaging Het
Edem3 T C 1: 151,777,551 Y203H probably damaging Het
Fam71a T C 1: 191,163,027 D473G probably benign Het
Fbxl5 A G 5: 43,745,334 C679R probably damaging Het
Fhad1 T C 4: 141,905,612 T1194A probably benign Het
Gipc2 A G 3: 152,102,657 L253P possibly damaging Het
Gpr26 T C 7: 131,967,501 Y192H probably damaging Het
Hoxb6 A G 11: 96,300,809 T186A probably damaging Het
Kif24 A G 4: 41,423,639 probably benign Het
Lonp1 T C 17: 56,615,500 probably benign Het
Lrp1 A G 10: 127,575,038 I1427T probably benign Het
Lrp2 C T 2: 69,469,436 E3091K possibly damaging Het
Map3k4 A T 17: 12,232,990 D1470E probably damaging Het
Med30 A T 15: 52,721,060 N125Y probably benign Het
Mgam G A 6: 40,662,710 probably null Het
Mrps33 G A 6: 39,802,513 R83* probably null Het
Notch3 A T 17: 32,146,416 Y1107* probably null Het
Rc3h2 T A 2: 37,377,844 probably benign Het
Rev1 T C 1: 38,099,009 E65G possibly damaging Het
Rgl1 T C 1: 152,519,142 N760S probably damaging Het
Slc16a4 T C 3: 107,303,100 I362T possibly damaging Het
Slc25a24 G A 3: 109,158,651 probably benign Het
Slc2a4 G T 11: 69,945,956 probably benign Het
Slc39a13 T A 2: 91,063,706 I256F probably damaging Het
Spdya A T 17: 71,556,325 N23I possibly damaging Het
Srpr T A 9: 35,213,438 W112R probably damaging Het
Tbc1d4 A C 14: 101,449,193 probably benign Het
Ttc39d G A 17: 80,216,274 G121R probably damaging Het
Tuba3a C T 6: 125,282,957 V9M possibly damaging Het
Upf2 A G 2: 5,961,300 K244E unknown Het
Usp39 T C 6: 72,339,975 Y141C probably damaging Het
Other mutations in Lzts1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Lzts1 APN 8 69139107 missense probably benign 0.11
IGL02371:Lzts1 APN 8 69138798 missense probably damaging 0.99
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
R8088:Lzts1 UTSW 8 69135822 missense probably benign 0.01
R8100:Lzts1 UTSW 8 69140745 missense probably damaging 1.00
Posted On2013-06-21