Incidental Mutation 'R8536:Lztfl1'
ID 659249
Institutional Source Beutler Lab
Gene Symbol Lztfl1
Ensembl Gene ENSMUSG00000025245
Gene Name leucine zipper transcription factor-like 1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # R8536 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 123694416-123717697 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123711054 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 129 (F129L)
Ref Sequence ENSEMBL: ENSMUSP00000150134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026274] [ENSMUST00000163207] [ENSMUST00000163559] [ENSMUST00000166097]
AlphaFold Q9JHQ5
Predicted Effect probably benign
Transcript: ENSMUST00000026274
AA Change: F122L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026274
Gene: ENSMUSG00000025245
AA Change: F122L

Pfam:Leu_zip 20 294 1e-136 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000095858
Gene: ENSMUSG00000025245
AA Change: F79L

Pfam:Leu_zip 1 218 1.1e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163207
AA Change: F129L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000163559
SMART Domains Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530

Pfam:7TM_GPCR_Srsx 59 332 5.9e-6 PFAM
Pfam:7tm_1 65 317 3.4e-52 PFAM
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000166097
AA Change: F122L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130872
Gene: ENSMUSG00000025245
AA Change: F122L

Pfam:Leu_zip 20 134 8.5e-61 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000132359
Gene: ENSMUSG00000025245
AA Change: F79L

Pfam:Leu_zip 1 117 4.3e-60 PFAM
Pfam:Leu_zip 109 230 1.2e-47 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit obesity, ventriculomegaly, decreased ERG a- and b-wave amplitudes, abnormal photoreceptor outer segment (OS) structure with large vesicle formation, and progressive retinal photoreceptor degeneration due to accumulation of non-OS proteins in the OS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,426,217 V217M probably benign Het
Abca4 A G 3: 122,179,745 Q1074R probably benign Het
Ablim1 T C 19: 57,182,286 probably benign Het
Acox2 A T 14: 8,256,081 D79E probably benign Het
Bpifb9b A G 2: 154,316,277 I440V probably benign Het
Ccdc7a T A 8: 128,790,120 T118S possibly damaging Het
Cntln T C 4: 84,957,049 I240T probably damaging Het
Col15a1 T C 4: 47,208,536 probably null Het
Cox18 A G 5: 90,215,018 F326S probably damaging Het
Dnm1l C A 16: 16,358,775 V31L probably benign Het
Dst C A 1: 34,197,246 L3578M possibly damaging Het
Fbxw24 G A 9: 109,623,531 T132I probably damaging Het
Fchsd1 A G 18: 37,967,770 V120A probably benign Het
Fibcd1 T C 2: 31,816,631 E396G probably damaging Het
Fryl G T 5: 73,100,353 T702K probably damaging Het
Gatb A T 3: 85,604,561 I208F probably damaging Het
Gm9733 A G 3: 15,296,554 *179R probably null Het
Gzmd T C 14: 56,129,701 I245V probably damaging Het
Lats2 G A 14: 57,703,038 A119V probably damaging Het
Mmp2 A T 8: 92,830,625 Y53F probably damaging Het
Mttp G A 3: 138,104,943 R637C probably damaging Het
Ndufa8 A C 2: 36,049,300 probably benign Het
Nek11 A T 9: 105,298,339 M302K probably benign Het
Nek6 A G 2: 38,514,785 probably null Het
Numa1 C T 7: 102,001,580 A1506V probably damaging Het
Plxdc1 A T 11: 97,978,696 probably null Het
Poteg C A 8: 27,448,020 T6K probably benign Het
Rbm26 A T 14: 105,142,838 N514K possibly damaging Het
Rnf145 T C 11: 44,560,115 L422P probably damaging Het
Scn5a G T 9: 119,539,745 T238K probably damaging Het
Shd G A 17: 55,976,315 A315T probably damaging Het
Slco5a1 T G 1: 12,881,301 T593P possibly damaging Het
Stard9 G A 2: 120,714,659 R4560H possibly damaging Het
Tldc1 T C 8: 119,764,048 N320S probably benign Het
Traf3ip3 C T 1: 193,194,515 probably null Het
Trpm1 G C 7: 64,247,407 K252N probably damaging Het
Ttc7b A T 12: 100,373,544 I584K possibly damaging Het
Vmn1r218 T C 13: 23,137,365 V214A probably benign Het
Wdfy3 G T 5: 101,885,198 H2215Q probably benign Het
Wls G A 3: 159,873,111 M103I probably damaging Het
Zmat4 T C 8: 23,748,507 probably null Het
Zmynd15 G T 11: 70,462,561 C334F probably damaging Het
Other mutations in Lztfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Lztfl1 APN 9 123702273 missense probably benign 0.34
IGL01610:Lztfl1 APN 9 123700091 missense probably benign 0.00
IGL03084:Lztfl1 APN 9 123709576 missense probably damaging 1.00
R0382:Lztfl1 UTSW 9 123707906 splice site probably null
R2010:Lztfl1 UTSW 9 123702186 missense possibly damaging 0.61
R4832:Lztfl1 UTSW 9 123715389 missense possibly damaging 0.80
R6894:Lztfl1 UTSW 9 123700933 missense possibly damaging 0.94
R6974:Lztfl1 UTSW 9 123709584 missense probably benign 0.31
R7692:Lztfl1 UTSW 9 123712471 nonsense probably null
R7703:Lztfl1 UTSW 9 123702129 missense probably damaging 1.00
R7719:Lztfl1 UTSW 9 123715330 missense probably null 0.54
R8244:Lztfl1 UTSW 9 123712449 missense probably damaging 0.97
R9478:Lztfl1 UTSW 9 123708102 missense possibly damaging 0.62
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-01-18