Incidental Mutation 'IGL03084:Lztfl1'
ID 417989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lztfl1
Ensembl Gene ENSMUSG00000025245
Gene Name leucine zipper transcription factor-like 1
Synonyms 6130400H19Rik, 5530402H04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # IGL03084
Quality Score
Status
Chromosome 9
Chromosomal Location 123523469-123546690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123538641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 152 (G152E)
Ref Sequence ENSEMBL: ENSMUSP00000150134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026274] [ENSMUST00000163207] [ENSMUST00000163559] [ENSMUST00000166097]
AlphaFold Q9JHQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000026274
AA Change: G145E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026274
Gene: ENSMUSG00000025245
AA Change: G145E

DomainStartEndE-ValueType
Pfam:Leu_zip 20 294 1e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098258
AA Change: G102E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000095858
Gene: ENSMUSG00000025245
AA Change: G102E

DomainStartEndE-ValueType
Pfam:Leu_zip 1 218 1.1e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163207
AA Change: G152E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000163559
SMART Domains Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 59 332 5.9e-6 PFAM
Pfam:7tm_1 65 317 3.4e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165754
AA Change: G135E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000166097
SMART Domains Protein: ENSMUSP00000130872
Gene: ENSMUSG00000025245

DomainStartEndE-ValueType
Pfam:Leu_zip 20 134 8.5e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166184
Predicted Effect probably damaging
Transcript: ENSMUST00000168921
AA Change: G102E

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132359
Gene: ENSMUSG00000025245
AA Change: G102E

DomainStartEndE-ValueType
Pfam:Leu_zip 1 117 4.3e-60 PFAM
Pfam:Leu_zip 109 230 1.2e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217171
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,768,261 (GRCm39) V211L probably damaging Het
BC024139 T C 15: 76,004,007 (GRCm39) D753G probably benign Het
Brpf3 A G 17: 29,054,751 (GRCm39) M1098V probably damaging Het
Cachd1 T A 4: 100,860,285 (GRCm39) D1285E probably damaging Het
Cacna1b T C 2: 24,499,944 (GRCm39) T147A probably benign Het
Cdc14a A G 3: 116,142,101 (GRCm39) probably null Het
Cfhr4 T A 1: 139,708,880 (GRCm39) L9F possibly damaging Het
Chd1 A G 17: 15,990,560 (GRCm39) H1704R probably benign Het
Dmkn T G 7: 30,470,481 (GRCm39) N367K possibly damaging Het
Fam151b C A 13: 92,604,534 (GRCm39) D152Y probably damaging Het
Gabrg3 T C 7: 56,384,812 (GRCm39) S250G possibly damaging Het
Gm28042 A G 2: 119,870,986 (GRCm39) Q833R probably benign Het
Gnpat A C 8: 125,605,638 (GRCm39) Y336S probably damaging Het
Ighv1-54 G A 12: 115,157,736 (GRCm39) probably benign Het
Irag1 A G 7: 110,485,036 (GRCm39) probably benign Het
Kif2c T C 4: 117,035,355 (GRCm39) N31S possibly damaging Het
Larp1 T A 11: 57,947,921 (GRCm39) L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 (GRCm39) P238S probably damaging Het
Lypd10 T C 7: 24,413,605 (GRCm39) I207T possibly damaging Het
Man2a2 T C 7: 80,002,691 (GRCm39) T1097A possibly damaging Het
Myh4 A G 11: 67,142,777 (GRCm39) probably null Het
Nab2 C T 10: 127,500,346 (GRCm39) V249M probably damaging Het
Nid2 A T 14: 19,819,000 (GRCm39) D498V probably benign Het
Nrap T C 19: 56,353,886 (GRCm39) T404A probably damaging Het
Or51i1 A G 7: 103,670,838 (GRCm39) V229A probably benign Het
Or5al7 A T 2: 85,992,569 (GRCm39) C241* probably null Het
Or5c1 T C 2: 37,222,413 (GRCm39) I218T probably damaging Het
Or8c9 T G 9: 38,241,513 (GRCm39) I210S probably damaging Het
Pard3 A G 8: 128,319,573 (GRCm39) I1104V probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ppfia3 A G 7: 44,989,651 (GRCm39) V1187A probably benign Het
Ppp1r16b G A 2: 158,603,413 (GRCm39) W346* probably null Het
Rpl4 A G 9: 64,085,599 (GRCm39) probably benign Het
Scn8a A T 15: 100,915,053 (GRCm39) I1206F probably damaging Het
Slc5a2 T C 7: 127,865,776 (GRCm39) S61P probably benign Het
Smarcal1 T C 1: 72,638,094 (GRCm39) probably null Het
Smyd4 A G 11: 75,281,433 (GRCm39) H302R probably benign Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Stx8 C T 11: 67,911,782 (GRCm39) Q167* probably null Het
Sycp2 C A 2: 178,033,584 (GRCm39) probably benign Het
Ttn A T 2: 76,626,742 (GRCm39) V13088D probably damaging Het
Ugt2b1 T A 5: 87,074,243 (GRCm39) M39L probably benign Het
Utp6 A T 11: 79,853,042 (GRCm39) probably null Het
Vmn1r189 A T 13: 22,286,008 (GRCm39) Y276* probably null Het
Vmn2r11 T A 5: 109,207,209 (GRCm39) D37V probably benign Het
Vmn2r16 T G 5: 109,478,292 (GRCm39) F16V probably damaging Het
Vmn2r65 A T 7: 84,592,354 (GRCm39) M538K probably damaging Het
Zfp143 T A 7: 109,668,818 (GRCm39) probably benign Het
Other mutations in Lztfl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Lztfl1 APN 9 123,531,338 (GRCm39) missense probably benign 0.34
IGL01610:Lztfl1 APN 9 123,529,156 (GRCm39) missense probably benign 0.00
R0382:Lztfl1 UTSW 9 123,536,971 (GRCm39) splice site probably null
R2010:Lztfl1 UTSW 9 123,531,251 (GRCm39) missense possibly damaging 0.61
R4832:Lztfl1 UTSW 9 123,544,454 (GRCm39) missense possibly damaging 0.80
R6894:Lztfl1 UTSW 9 123,529,998 (GRCm39) missense possibly damaging 0.94
R6974:Lztfl1 UTSW 9 123,538,649 (GRCm39) missense probably benign 0.31
R7692:Lztfl1 UTSW 9 123,541,536 (GRCm39) nonsense probably null
R7703:Lztfl1 UTSW 9 123,531,194 (GRCm39) missense probably damaging 1.00
R7719:Lztfl1 UTSW 9 123,544,395 (GRCm39) missense probably null 0.54
R8244:Lztfl1 UTSW 9 123,541,514 (GRCm39) missense probably damaging 0.97
R8536:Lztfl1 UTSW 9 123,540,119 (GRCm39) missense probably benign 0.00
R9478:Lztfl1 UTSW 9 123,537,167 (GRCm39) missense possibly damaging 0.62
Posted On 2016-08-02