Mutagenetix > Incidental Mutation

Incidental Mutation 'R1442:Lzts1'

161540

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

039497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1442 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69585321-69636877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69591638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 170 (A170E)

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: A170E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: A170E

Domain	Start	End	E-Value	Type
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: A170E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: A170E

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
low complexity region	305	350	N/A	INTRINSIC
Pfam:Fez1	378	569	2.3e-79	PFAM

Meta Mutation Damage Score

0.0842

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.4%

Validation Efficiency

100% (71/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,833 (GRCm39)		probably benign	Het
Adamts7	T	A	9: 90,070,823 (GRCm39)	I648N	probably damaging	Het
Akap13	T	A	7: 75,385,526 (GRCm39)	F2252I	probably damaging	Het
Akr1c6	A	T	13: 4,507,159 (GRCm39)	H314L	probably damaging	Het
Anxa3	T	A	5: 96,976,549 (GRCm39)		probably null	Het
Apob	T	G	12: 8,036,165 (GRCm39)	F298V	probably benign	Het
Atp8a2	A	C	14: 60,097,772 (GRCm39)		probably benign	Het
Atp8b5	A	T	4: 43,334,313 (GRCm39)	T360S	probably damaging	Het
BC051665	A	T	13: 60,932,555 (GRCm39)	N43K	probably benign	Het
Bicral	T	A	17: 47,112,650 (GRCm39)	H850L	probably benign	Het
C1qtnf1	A	G	11: 118,339,011 (GRCm39)	D227G	probably damaging	Het
C8a	T	A	4: 104,685,275 (GRCm39)	T323S	possibly damaging	Het
Cep89	T	C	7: 35,117,636 (GRCm39)		probably benign	Het
Cercam	G	T	2: 29,770,652 (GRCm39)	V408L	probably benign	Het
CN725425	G	A	15: 91,123,158 (GRCm39)	V76M	possibly damaging	Het
Cops7b	T	A	1: 86,532,835 (GRCm39)	M231K	probably benign	Het
Cpa2	T	A	6: 30,544,865 (GRCm39)		probably null	Het
Dab2ip	A	T	2: 35,600,268 (GRCm39)	I287F	probably damaging	Het
Defb10	A	T	8: 22,348,944 (GRCm39)	M1L	probably benign	Het
Dscam	C	A	16: 96,409,274 (GRCm39)	R1883L	possibly damaging	Het
Dsg4	T	A	18: 20,595,717 (GRCm39)	I640N	possibly damaging	Het
Duox2	G	C	2: 122,112,232 (GRCm39)	P1318R	probably benign	Het
Dzip3	T	C	16: 48,765,985 (GRCm39)	D466G	probably benign	Het
E230025N22Rik	T	A	18: 36,824,462 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,102,652 (GRCm39)	L80P	probably damaging	Het
Eif2b2	T	C	12: 85,266,360 (GRCm39)	S9P	probably benign	Het
Etaa1	A	T	11: 17,897,201 (GRCm39)	D305E	probably benign	Het
Fads6	C	A	11: 115,188,235 (GRCm39)	R23L	probably benign	Het
Flrt2	T	C	12: 95,746,979 (GRCm39)	V439A	probably damaging	Het
Galm	A	C	17: 80,452,614 (GRCm39)	Q184P	probably damaging	Het
Gtse1	C	T	15: 85,744,303 (GRCm39)		probably benign	Het
Irf7	T	C	7: 140,843,935 (GRCm39)	T246A	probably damaging	Het
Kif28	A	G	1: 179,532,697 (GRCm39)	V639A	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,385 (GRCm39)	A167T	possibly damaging	Het
Lrfn3	T	C	7: 30,059,469 (GRCm39)	H252R	probably benign	Het
Mphosph9	T	A	5: 124,403,461 (GRCm39)	I856F	possibly damaging	Het
Mroh2a	C	T	1: 88,160,075 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myh3	A	G	11: 66,978,103 (GRCm39)	N392D	possibly damaging	Het
Naalad2	T	C	9: 18,262,328 (GRCm39)		probably benign	Het
Npc1	T	A	18: 12,328,106 (GRCm39)	M1068L	probably benign	Het
Nup58	T	A	14: 60,469,992 (GRCm39)		probably benign	Het
Or10c1	T	C	17: 37,522,595 (GRCm39)	T50A	probably benign	Het
Or4k40	A	T	2: 111,250,438 (GRCm39)	I286N	probably damaging	Het
Or8b1	A	T	9: 38,399,939 (GRCm39)	I205F	probably benign	Het
Or8s16	T	C	15: 98,211,068 (GRCm39)	Y121C	probably damaging	Het
Parp2	T	G	14: 51,056,732 (GRCm39)		probably null	Het
Ppp4r4	T	C	12: 103,564,504 (GRCm39)	V9A	probably damaging	Het
Ptprc	T	A	1: 138,000,050 (GRCm39)	D856V	probably damaging	Het
Ptpru	T	A	4: 131,535,580 (GRCm39)	T466S	probably benign	Het
Rhob	A	G	12: 8,549,325 (GRCm39)	V103A	possibly damaging	Het
Sec23ip	A	C	7: 128,378,510 (GRCm39)	S775R	probably benign	Het
Slit2	T	G	5: 48,395,725 (GRCm39)	D709E	probably damaging	Het
Smok2b	C	G	17: 13,454,390 (GRCm39)	I183M	probably damaging	Het
Smtnl1	T	A	2: 84,648,780 (GRCm39)	D158V	probably damaging	Het
Syne2	T	C	12: 75,993,489 (GRCm39)	I2087T	probably damaging	Het
Tada1	G	A	1: 166,214,319 (GRCm39)	R106H	possibly damaging	Het
Tecta	T	A	9: 42,243,778 (GRCm39)	I2025F	probably damaging	Het
Themis	T	C	10: 28,658,131 (GRCm39)	V386A	probably damaging	Het
Ubr5	G	A	15: 38,015,168 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,033,446 (GRCm39)	I134N	probably damaging	Het
Vegfa	G	A	17: 46,336,418 (GRCm39)	T56I	possibly damaging	Het
Vmn2r108	T	A	17: 20,692,623 (GRCm39)	K78*	probably null	Het
Vmn2r82	A	T	10: 79,215,201 (GRCm39)	T395S	probably benign	Het
Wbp2nl	T	C	15: 82,198,407 (GRCm39)	S315P	probably benign	Het
Zfp566	T	C	7: 29,777,344 (GRCm39)	Y279C	probably damaging	Het
Zmym2	T	C	14: 57,180,784 (GRCm39)	Y899H	probably damaging	Het

Other mutations in Lzts1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1887:Lzts1	UTSW	8	69,591,485 (GRCm39)	missense	probably damaging	1.00
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'- TGTAGCTTCTGTAGTGCAGTCTCCC -3'
(R):5'- AGCCAGTCCAGAGCATCTGACATAG -3'

Sequencing Primer
(F):5'- TTGCTGCCGCCATCAGAG -3'
(R):5'- CCAGAGCATCTGACATAGTTTGC -3'

Posted On

2014-03-14