Mutagenetix > Incidental Mutation

Incidental Mutation 'R0382:Lztfl1'

65476

Institutional Source

Beutler Lab

Gene Symbol

Lztfl1

Ensembl Gene

ENSMUSG00000025245

Gene Name

leucine zipper transcription factor-like 1

Synonyms

6130400H19Rik, 5530402H04Rik

MMRRC Submission

038588-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R0382 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

123523469-123546690 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 123536971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026274] [ENSMUST00000026274] [ENSMUST00000163207] [ENSMUST00000163559] [ENSMUST00000166097]

AlphaFold

Q9JHQ5

Predicted Effect

probably null
Transcript: ENSMUST00000026274

SMART Domains

Protein: ENSMUSP00000026274
Gene: ENSMUSG00000025245

Domain	Start	End	E-Value	Type
Pfam:Leu_zip	20	294	1e-136	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000026274

SMART Domains

Protein: ENSMUSP00000026274
Gene: ENSMUSG00000025245

Domain	Start	End	E-Value	Type
Pfam:Leu_zip	20	294	1e-136	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098258

SMART Domains

Protein: ENSMUSP00000095858
Gene: ENSMUSG00000025245

Domain	Start	End	E-Value	Type
Pfam:Leu_zip	1	218	1.1e-97	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000098258

SMART Domains

Protein: ENSMUSP00000095858
Gene: ENSMUSG00000025245

Domain	Start	End	E-Value	Type
Pfam:Leu_zip	1	218	1.1e-97	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163207

Predicted Effect

probably benign
Transcript: ENSMUST00000163559

SMART Domains

Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	59	332	5.9e-6	PFAM
Pfam:7tm_1	65	317	3.4e-52	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000165754

Predicted Effect

probably benign
Transcript: ENSMUST00000166097

SMART Domains

Protein: ENSMUSP00000130872
Gene: ENSMUSG00000025245

Domain	Start	End	E-Value	Type
Pfam:Leu_zip	20	134	8.5e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166184

Predicted Effect

probably null
Transcript: ENSMUST00000168921

SMART Domains

Protein: ENSMUSP00000132359
Gene: ENSMUSG00000025245

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,923,901 (GRCm39)	Q266L	probably benign	Het
Abca13	T	C	11: 9,586,650 (GRCm39)		probably benign	Het
Adap2	T	C	11: 80,069,211 (GRCm39)		probably benign	Het
Adgrb2	C	G	4: 129,901,624 (GRCm39)	P416R	probably damaging	Het
Brinp1	T	C	4: 68,680,545 (GRCm39)	R662G	possibly damaging	Het
Celsr3	C	A	9: 108,706,417 (GRCm39)	P967T	probably damaging	Het
Ces1b	T	C	8: 93,802,680 (GRCm39)		probably benign	Het
Ckm	T	C	7: 19,155,309 (GRCm39)	*382Q	probably null	Het
Clec14a	A	G	12: 58,315,403 (GRCm39)	V73A	probably damaging	Het
Cmya5	A	T	13: 93,229,256 (GRCm39)	V1944E	probably benign	Het
Col6a6	T	A	9: 105,632,754 (GRCm39)	D1473V	probably damaging	Het
Cttnbp2	A	G	6: 18,435,342 (GRCm39)	M172T	probably benign	Het
Dcaf12	T	C	4: 41,302,672 (GRCm39)	N161S	probably damaging	Het
Dnah17	T	C	11: 118,019,822 (GRCm39)	Y75C	probably damaging	Het
Efcab7	T	C	4: 99,758,966 (GRCm39)	V388A	possibly damaging	Het
Fat3	A	G	9: 15,871,052 (GRCm39)	C3780R	probably damaging	Het
Fbxl14	T	C	6: 119,458,021 (GRCm39)	*401R	probably null	Het
Fbxo5	G	T	10: 5,751,176 (GRCm39)	Y270*	probably null	Het
Fnbp1l	A	T	3: 122,364,602 (GRCm39)		probably benign	Het
Fstl3	T	C	10: 79,613,141 (GRCm39)	S3P	probably benign	Het
Gpatch1	T	C	7: 35,001,080 (GRCm39)	D309G	probably damaging	Het
Gstcd	A	T	3: 132,692,169 (GRCm39)	L582H	probably damaging	Het
Klk6	A	G	7: 43,478,669 (GRCm39)	D192G	probably benign	Het
Lrp6	A	G	6: 134,444,631 (GRCm39)	S1080P	probably damaging	Het
Mov10l1	A	G	15: 88,869,796 (GRCm39)	Y59C	possibly damaging	Het
Natd1	C	T	11: 60,797,739 (GRCm39)	R62H	probably damaging	Het
Obscn	T	C	11: 58,931,132 (GRCm39)	T5835A	probably damaging	Het
Or4c31	A	T	2: 88,292,069 (GRCm39)	R147S	possibly damaging	Het
Or5j3	A	G	2: 86,128,937 (GRCm39)	Y259C	probably damaging	Het
Or6c66b	T	C	10: 129,376,883 (GRCm39)	I159T	probably benign	Het
Or7a38	T	A	10: 78,752,960 (GRCm39)	Y95*	probably null	Het
P2rx2	T	A	5: 110,489,045 (GRCm39)	E289V	probably benign	Het
Patl1	T	A	19: 11,902,596 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,080,591 (GRCm39)		probably benign	Het
Qrfpr	C	T	3: 36,235,118 (GRCm39)	C253Y	possibly damaging	Het
Rad21l	A	T	2: 151,487,363 (GRCm39)	D540E	probably damaging	Het
Rbm45	T	A	2: 76,200,555 (GRCm39)	I28N	possibly damaging	Het
Rnf170	A	T	8: 26,615,927 (GRCm39)		probably benign	Het
Sgsm3	G	A	15: 80,892,515 (GRCm39)	W280*	probably null	Het
Slc9a9	A	T	9: 94,567,270 (GRCm39)	H113L	probably benign	Het
Slc9b2	G	T	3: 135,024,183 (GRCm39)	C78F	probably damaging	Het
Slfn10-ps	T	A	11: 82,920,360 (GRCm39)		noncoding transcript	Het
Slfn8	T	A	11: 82,895,382 (GRCm39)	I475F	probably damaging	Het
Stox2	A	G	8: 47,656,319 (GRCm39)		probably benign	Het
Strbp	A	T	2: 37,490,838 (GRCm39)	N472K	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tmem39a	A	G	16: 38,411,760 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,478,150 (GRCm39)	L664P	probably damaging	Het
Uap1	T	A	1: 169,989,051 (GRCm39)	M124L	probably benign	Het
Usp48	A	G	4: 137,348,529 (GRCm39)	N536S	probably benign	Het
Usp50	T	A	2: 126,619,848 (GRCm39)	I155F	probably damaging	Het
Utp4	T	C	8: 107,649,567 (GRCm39)	I672T	probably benign	Het
Vmn1r94	A	T	7: 19,901,578 (GRCm39)	M242K	possibly damaging	Het
Vmn2r45	T	G	7: 8,486,098 (GRCm39)	N397H	probably benign	Het
Vmn2r9	T	C	5: 108,995,463 (GRCm39)	Y395C	probably damaging	Het
Vps41	C	A	13: 19,011,897 (GRCm39)	H335N	probably benign	Het

Other mutations in Lztfl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03084:Lztfl1	APN	9	123,538,641 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TCCCAGCAGGTAGAGCGATACTC -3'
(R):5'- TCAAGGCTGAAGACCATTGAAATACAGG -3'

Sequencing Primer
(F):5'- GAACATCCTGCCTGCTATTAAG -3'
(R):5'- CAGGTAACTGGAGAATCTTTCAACAC -3'

Posted On

2013-08-08