Incidental Mutation 'R1887:Lzts1'
ID 209653
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 039908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1887 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 69585321-69636877 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69591485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 221 (D221G)
Ref Sequence ENSEMBL: ENSMUSP00000139117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037049] [ENSMUST00000185176]
AlphaFold P60853
Predicted Effect probably damaging
Transcript: ENSMUST00000037049
AA Change: D221G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: D221G

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: D221G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: D221G

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
  • 1x: 97.1%
  • 3x: 96.1%
  • 10x: 93.2%
  • 20x: 86.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
1700102P08Rik T A 9: 108,270,809 (GRCm39) D124E possibly damaging Het
4930544D05Rik A G 11: 70,507,249 (GRCm39) E98G probably damaging Het
Abca8a A T 11: 109,980,768 (GRCm39) M90K probably damaging Het
Adamts9 A G 6: 92,849,769 (GRCm39) probably null Het
Adora3 A C 3: 105,812,152 (GRCm39) N13H possibly damaging Het
Aen A T 7: 78,557,073 (GRCm39) D307V probably damaging Het
Akr1c18 T A 13: 4,193,287 (GRCm39) N126I probably benign Het
Ankmy2 T A 12: 36,220,467 (GRCm39) M51K possibly damaging Het
Antkmt C A 17: 26,010,319 (GRCm39) probably null Het
Apc A G 18: 34,405,521 (GRCm39) E159G probably damaging Het
Arhgef28 G T 13: 98,282,081 (GRCm39) S4R probably damaging Het
Atg2b G A 12: 105,620,351 (GRCm39) T784M probably benign Het
Atp11a A G 8: 12,862,324 (GRCm39) N59D probably damaging Het
Cacna1h T C 17: 25,595,861 (GRCm39) Y1875C probably benign Het
Capza1 A T 3: 104,747,096 (GRCm39) probably null Het
Ccdc81 T C 7: 89,515,819 (GRCm39) E620G possibly damaging Het
Cdcp2 T C 4: 106,959,899 (GRCm39) F105L probably damaging Het
Cdhr18 A C 14: 13,828,607 (GRCm38) Y718D probably damaging Het
Cep152 A T 2: 125,462,225 (GRCm39) M58K probably benign Het
Comtd1 A G 14: 21,897,809 (GRCm39) L108P probably damaging Het
Cyp2b13 A G 7: 25,788,075 (GRCm39) Y401C probably damaging Het
Dap3 A G 3: 88,838,281 (GRCm39) L86P probably damaging Het
Dmxl1 G A 18: 49,992,202 (GRCm39) R316H probably benign Het
Eea1 T A 10: 95,854,073 (GRCm39) probably null Het
Eeig1 T A 2: 32,450,140 (GRCm39) N129K possibly damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,221,380 (GRCm39) V157A probably damaging Het
Fat3 T A 9: 15,878,357 (GRCm39) I3375F probably damaging Het
Fmod A G 1: 133,968,551 (GRCm39) E197G possibly damaging Het
Fsd1l T C 4: 53,696,984 (GRCm39) probably null Het
Gbp2b A G 3: 142,314,063 (GRCm39) T448A probably benign Het
Gpatch1 A T 7: 35,002,813 (GRCm39) N232K probably damaging Het
H2-Q4 A G 17: 35,599,113 (GRCm39) R128G possibly damaging Het
Hc T C 2: 34,924,623 (GRCm39) I435V probably benign Het
Hmgxb3 A G 18: 61,270,473 (GRCm39) probably null Het
Il23r A T 6: 67,450,785 (GRCm39) D231E possibly damaging Het
Irag1 A G 7: 110,523,740 (GRCm39) probably null Het
Kcnt2 T A 1: 140,511,985 (GRCm39) S1023T probably damaging Het
Klc2 A G 19: 5,158,640 (GRCm39) V618A probably benign Het
Mdn1 G C 4: 32,742,540 (GRCm39) R3926P probably damaging Het
Med24 A G 11: 98,609,642 (GRCm39) probably benign Het
Mga T A 2: 119,754,098 (GRCm39) L869Q probably damaging Het
Mob3a G A 10: 80,527,068 (GRCm39) Q86* probably null Het
Ncoa7 T C 10: 30,524,448 (GRCm39) N823S possibly damaging Het
Nlrp5 T A 7: 23,116,909 (GRCm39) V211D probably damaging Het
Nr1h4 A T 10: 89,290,729 (GRCm39) M433K possibly damaging Het
Ofcc1 T C 13: 40,360,100 (GRCm39) S310G possibly damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5p57 T C 7: 107,665,985 (GRCm39) N7D probably benign Het
Or8k22 A G 2: 86,163,617 (GRCm39) F28L possibly damaging Het
Pdlim7 C T 13: 55,653,981 (GRCm39) G212D probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pik3cd T A 4: 149,737,091 (GRCm39) I902F probably damaging Het
Pip5kl1 A G 2: 32,468,517 (GRCm39) T198A probably damaging Het
Prkdc T C 16: 15,647,499 (GRCm39) V3641A probably benign Het
Rp1l1 T C 14: 64,265,839 (GRCm39) V475A probably benign Het
Rpl37 C T 15: 5,148,072 (GRCm39) T83M possibly damaging Het
Scml4 A G 10: 42,788,223 (GRCm39) Y51C probably damaging Het
Serinc5 A T 13: 92,838,214 (GRCm39) D340V possibly damaging Het
Stambpl1 A G 19: 34,213,808 (GRCm39) I346V probably benign Het
Syna G A 5: 134,588,106 (GRCm39) S281L probably benign Het
Tcstv2a G T 13: 120,725,604 (GRCm39) K89N probably damaging Het
Tet2 T C 3: 133,193,094 (GRCm39) T447A possibly damaging Het
Tgfbr3 A G 5: 107,284,874 (GRCm39) F592L probably damaging Het
Tmc7 A T 7: 118,160,310 (GRCm39) F176I possibly damaging Het
Trip4 T A 9: 65,782,163 (GRCm39) I190F probably null Het
Ttc6 T A 12: 57,720,044 (GRCm39) S872T probably benign Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ubr4 T C 4: 139,182,871 (GRCm39) L419P probably damaging Het
Ush2a C A 1: 188,132,177 (GRCm39) Q800K probably benign Het
Vmn2r115 T C 17: 23,565,007 (GRCm39) I298T possibly damaging Het
Vmn2r28 T C 7: 5,491,288 (GRCm39) T320A possibly damaging Het
Zfp804b T C 5: 6,820,376 (GRCm39) R860G probably 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
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
Predicted Primers PCR Primer
(F):5'- ATCGAAACTGCGCTGTAGCTTC -3'
(R):5'- TGCCTCCAGATAAGCCCAAG -3'

Sequencing Primer
(F):5'- AAACTGCGCTGTAGCTTCTGTAG -3'
(R):5'- TCCAGATAAGCCCAAGGAGCAG -3'
Posted On 2014-06-30