Incidental Mutation 'IGL01610:Lztfl1'
ID 91962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lztfl1
Ensembl Gene ENSMUSG00000025245
Gene Name leucine zipper transcription factor-like 1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.260) question?
Stock # IGL01610
Quality Score
Chromosome 9
Chromosomal Location 123694416-123717697 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123700091 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 298 (E298D)
Ref Sequence ENSEMBL: ENSMUSP00000026274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026274] [ENSMUST00000163559] [ENSMUST00000166097]
AlphaFold Q9JHQ5
Predicted Effect probably benign
Transcript: ENSMUST00000026274
AA Change: E298D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026274
Gene: ENSMUSG00000025245
AA Change: E298D

Pfam:Leu_zip 20 294 1e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098258
SMART Domains Protein: ENSMUSP00000095858
Gene: ENSMUSG00000025245

Pfam:Leu_zip 1 218 1.1e-97 PFAM
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 unknown
Transcript: ENSMUST00000165754
AA Change: E288D
Predicted Effect probably benign
Transcript: ENSMUST00000166097
SMART Domains Protein: ENSMUSP00000130872
Gene: ENSMUSG00000025245

Pfam:Leu_zip 20 134 8.5e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000168921
AA Change: E233D
SMART Domains Protein: ENSMUSP00000132359
Gene: ENSMUSG00000025245
AA Change: E233D

Pfam:Leu_zip 1 117 4.3e-60 PFAM
Pfam:Leu_zip 109 230 1.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170214
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 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,199,566 probably benign Het
2810474O19Rik C T 6: 149,328,951 T1165M probably benign Het
4921524J17Rik T C 8: 85,412,242 I73V probably benign Het
4930562C15Rik T A 16: 4,851,565 probably benign Het
Abca15 T A 7: 120,340,644 V323D probably damaging Het
Acot10 T C 15: 20,665,695 Y320C probably damaging Het
Acp6 T A 3: 97,175,720 V349D possibly damaging Het
Adcy9 G T 16: 4,418,114 Q478K probably damaging Het
Akap13 A T 7: 75,747,605 I2528F probably damaging Het
Akap13 A G 7: 75,720,180 I1843V possibly damaging Het
Akap9 G A 5: 4,032,839 A1988T possibly damaging Het
Alox5 C T 6: 116,413,547 V490M probably damaging Het
Aspm C T 1: 139,489,670 R1537* probably null Het
Bmf G A 2: 118,549,158 P46S probably benign Het
Brf1 T A 12: 112,988,083 H92L probably benign Het
Chchd1 A G 14: 20,703,177 N35S probably benign Het
Cntnap3 C T 13: 64,757,301 G889S probably damaging Het
Col6a4 T C 9: 106,047,707 probably benign Het
Crispld1 A G 1: 17,746,725 probably null Het
Ddx27 T C 2: 167,022,044 probably benign Het
Dennd1b A G 1: 139,169,766 probably benign Het
Dennd4a T C 9: 64,906,884 V1461A probably damaging Het
Drc7 C T 8: 95,077,802 R843W probably damaging Het
Dync2li1 A G 17: 84,628,314 E13G probably damaging Het
Egf A G 3: 129,706,260 probably benign Het
Hpse2 T C 19: 43,384,789 S134G probably benign Het
Hydin A G 8: 110,557,713 T3206A probably benign Het
Ier5l T A 2: 30,473,954 S20C probably damaging Het
Il1r1 A G 1: 40,302,400 E324G probably benign Het
Kdm4b C T 17: 56,353,522 probably benign Het
Myo1b A T 1: 51,776,246 M647K probably damaging Het
Olfr1106 G T 2: 87,048,288 probably benign Het
Olfr539 C T 7: 140,667,671 A128V probably damaging Het
Olfr619 A T 7: 103,604,067 T138S probably benign Het
Parvb A T 15: 84,303,465 K258M probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pcnx2 C A 8: 125,839,633 A1024S possibly damaging Het
Pde4a T C 9: 21,211,350 probably benign Het
Pgr A T 9: 8,903,691 H571L possibly damaging Het
Phf20 G T 2: 156,302,889 E806* probably null Het
Pilra T A 5: 137,835,541 I85F probably damaging Het
Pla2g2f C T 4: 138,753,311 V125M probably damaging Het
Rb1cc1 A G 1: 6,248,481 N708S probably benign Het
Rnase4 A T 14: 51,104,921 Y34F probably damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpl9-ps6 T A 19: 32,466,299 T85S probably benign Het
Scaf8 C T 17: 3,195,849 P738S probably damaging Het
Sec31a A T 5: 100,402,358 probably benign Het
Sel1l C T 12: 91,817,290 V459I probably damaging Het
Senp7 A T 16: 56,175,823 D755V possibly damaging Het
Serpinb9d A T 13: 33,198,002 K151N probably benign Het
Slc8a3 A G 12: 81,315,802 F81S probably damaging Het
Spire2 T A 8: 123,356,763 L162Q probably damaging Het
Syt17 A G 7: 118,433,993 I264T possibly damaging Het
Tbl3 A T 17: 24,704,044 V379D probably damaging Het
Tenm3 A T 8: 48,254,477 L1762Q probably damaging Het
Trerf1 A T 17: 47,319,575 noncoding transcript Het
Ttc13 T C 8: 124,676,344 D552G probably damaging Het
Tuba3a G T 6: 125,278,566 T382K possibly damaging Het
Vmn1r210 A T 13: 22,827,807 V103E probably damaging Het
Vmn1r80 A G 7: 12,193,380 H139R possibly damaging Het
Xpo7 A T 14: 70,703,230 F141Y probably damaging Het
Zfp143 T A 7: 110,074,126 Y143* probably null Het
Zfp207 T A 11: 80,385,970 C26S probably damaging Het
Other mutations in Lztfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Lztfl1 APN 9 123702273 missense probably benign 0.34
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
R8536:Lztfl1 UTSW 9 123711054 missense probably benign 0.00
R9478:Lztfl1 UTSW 9 123708102 missense possibly damaging 0.62
Posted On 2013-12-09