Incidental Mutation 'R5159:Lzts1'
ID 396879
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 042741-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5159 (G1)
Quality Score 99
Status Validated
Chromosome 8
Chromosomal Location 69585321-69636877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69591236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 304 (D304G)
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: D304G

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: D304G

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: D304G

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: D304G

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 0.0663 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 100% (63/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,352 (GRCm39) T412A probably benign Het
Aldh5a1 T A 13: 25,097,776 (GRCm39) M420L possibly damaging Het
Armc2 A G 10: 41,884,711 (GRCm39) S77P probably damaging Het
Avil A G 10: 126,856,317 (GRCm39) probably null Het
Bltp3a A G 17: 28,100,530 (GRCm39) H323R probably damaging Het
Bmp5 T A 9: 75,801,035 (GRCm39) F388L probably damaging Het
Brca2 T G 5: 150,465,573 (GRCm39) V1779G possibly damaging Het
Cblb T A 16: 51,932,483 (GRCm39) S147T probably damaging Het
Cblc T C 7: 19,519,233 (GRCm39) E409G probably benign Het
Cdc34b C T 11: 94,632,886 (GRCm39) R29W probably damaging Het
Clic6 T A 16: 92,324,954 (GRCm39) Y371N probably benign Het
Col5a2 A G 1: 45,425,991 (GRCm39) probably null Het
Coro1a A T 7: 126,302,221 (GRCm39) V42D probably damaging Het
Cpa3 C T 3: 20,281,387 (GRCm39) C173Y probably damaging Het
Crb1 A C 1: 139,170,756 (GRCm39) V817G probably damaging Het
Cyp2c39 A G 19: 39,549,378 (GRCm39) T299A possibly damaging Het
Dock5 G A 14: 68,029,738 (GRCm39) R1019C probably benign Het
Exoc8 T C 8: 125,622,952 (GRCm39) T472A probably benign Het
Fancc A G 13: 63,469,679 (GRCm39) probably null Het
Fcgbpl1 T A 7: 27,852,733 (GRCm39) M1340K probably benign Het
Inpp5d T C 1: 87,604,064 (GRCm39) L244P probably damaging Het
Ireb2 A G 9: 54,799,831 (GRCm39) N424S probably benign Het
Krt35 T C 11: 99,984,875 (GRCm39) D261G probably damaging Het
Lipc T A 9: 70,720,192 (GRCm39) I272L probably benign Het
Lpcat3 A G 6: 124,676,357 (GRCm39) probably benign Het
Mdn1 A G 4: 32,774,008 (GRCm39) I5540V possibly damaging Het
Msln T C 17: 25,970,563 (GRCm39) S231G probably benign Het
Mup8 G A 4: 60,221,062 (GRCm39) T101M probably benign Het
Myh8 T C 11: 67,179,179 (GRCm39) I524T probably damaging Het
Pappa2 A G 1: 158,589,189 (GRCm39) C1679R probably damaging Het
Pcdhb1 T C 18: 37,399,416 (GRCm39) S456P possibly damaging Het
Pcdhga5 A G 18: 37,828,719 (GRCm39) N389S probably benign Het
Pitrm1 C A 13: 6,617,507 (GRCm39) S620R probably benign Het
Plod3 T A 5: 137,023,932 (GRCm39) probably benign Het
Por A T 5: 135,759,771 (GRCm39) Q194L probably benign Het
Prkag3 A T 1: 74,780,646 (GRCm39) Y396N probably damaging Het
R3hcc1 T C 14: 69,935,053 (GRCm39) probably null Het
Rcan3 C T 4: 135,152,592 (GRCm39) S43N probably damaging Het
Rhot1 A G 11: 80,111,098 (GRCm39) T31A probably damaging Het
Rnps1 T G 17: 24,637,486 (GRCm39) S43A unknown Het
Rp1 T C 1: 4,416,426 (GRCm39) D1562G possibly damaging Het
Rps19-ps13 A G 18: 40,859,428 (GRCm39) noncoding transcript Het
Serpina3c A T 12: 104,115,771 (GRCm39) S258T possibly damaging Het
Smc2 G A 4: 52,460,181 (GRCm39) R519Q possibly damaging Het
Sorbs2 A T 8: 46,248,767 (GRCm39) T593S probably benign Het
Sptbn2 A G 19: 4,787,885 (GRCm39) T955A probably benign Het
Stfa3 T C 16: 36,272,581 (GRCm39) K40E probably damaging Het
Tmem87b A G 2: 128,666,378 (GRCm39) E75G probably benign Het
Tmprss15 T C 16: 78,800,298 (GRCm39) Q595R probably benign Het
Trak1 A T 9: 121,289,478 (GRCm39) I597F probably damaging Het
Trat1 T C 16: 48,555,300 (GRCm39) D144G probably damaging Het
Trim25 T C 11: 88,890,358 (GRCm39) V15A probably benign Het
Tulp1 A C 17: 28,578,034 (GRCm39) probably null Het
Txndc15 T A 13: 55,865,734 (GRCm39) M66K probably benign Het
Vmn1r206 T A 13: 22,804,775 (GRCm39) N144I probably damaging Het
Wwc2 T C 8: 48,353,796 (GRCm39) T113A probably benign Het
Xpo5 A C 17: 46,528,535 (GRCm39) E313D probably damaging Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign 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
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
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'- CGAAGTTGGTTTTCTCCCGC -3'
(R):5'- CTGAAGGCTCTGTCGTTCTCTG -3'

Sequencing Primer
(F):5'- TCGTAGGACCTCAGCTTGG -3'
(R):5'- TTCTCTGATGGCGGCAGC -3'
Posted On 2016-06-21