Mutagenetix > Incidental Mutation

Incidental Mutation 'R8088:Lzts1'

629792

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

067521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69585321-69636877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 69588474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 494 (L494R)

Ref Sequence

ENSEMBL: ENSMUSP00000039397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037049] [ENSMUST00000185176]

AlphaFold

P60853

Predicted Effect

probably benign
Transcript: ENSMUST00000037049
AA Change: L494R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: L494R

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 benign
Transcript: ENSMUST00000185176
AA Change: L494R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: L494R

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 96.8%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c1	A	T	9: 105,329,768 (GRCm39)		probably null	Het
Ccdc134	T	A	15: 82,015,990 (GRCm39)		probably benign	Het
Ccdc162	G	T	10: 41,499,410 (GRCm39)	H1066Q	possibly damaging	Het
Ccna1	A	G	3: 54,958,492 (GRCm39)	S64P	probably benign	Het
Cplane1	A	G	15: 8,215,802 (GRCm39)	M453V	probably benign	Het
Defb12	T	C	8: 19,162,837 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,338,443 (GRCm39)	V738L	probably benign	Het
Dnah10	A	G	5: 124,831,330 (GRCm39)	N843S	probably benign	Het
Dspp	A	G	5: 104,325,122 (GRCm39)	D495G	unknown	Het
Dus2	A	G	8: 106,757,073 (GRCm39)	M88V	probably benign	Het
Dusp13b	A	G	14: 21,791,305 (GRCm39)	V49A	probably benign	Het
Efcab3	A	T	11: 104,889,072 (GRCm39)	I4163L	probably benign	Het
Ehbp1	G	A	11: 22,039,572 (GRCm39)	H843Y	probably null	Het
Entpd3	A	C	9: 120,383,239 (GRCm39)	R91S	probably benign	Het
Fam83c	C	A	2: 155,673,559 (GRCm39)	V210F	probably damaging	Het
Flot1	G	A	17: 36,140,870 (GRCm39)	A287T	probably damaging	Het
Gm19410	A	G	8: 36,273,995 (GRCm39)	K1412E	probably benign	Het
Gsn	G	A	2: 35,182,659 (GRCm39)	V241M	possibly damaging	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Heatr5a	T	C	12: 51,994,779 (GRCm39)	D451G	possibly damaging	Het
Hmcn2	G	A	2: 31,316,915 (GRCm39)	W3831*	probably null	Het
Il3	A	G	11: 54,156,375 (GRCm39)	V119A	probably benign	Het
Jam3	T	C	9: 27,010,156 (GRCm39)	K276R	probably benign	Het
Kcnt1	G	A	2: 25,784,326 (GRCm39)	G277D	possibly damaging	Het
Kif28	T	A	1: 179,527,919 (GRCm39)	D744V	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Loxhd1	T	C	18: 77,429,709 (GRCm39)	I535T	possibly damaging	Het
Mettl4	A	G	17: 95,042,795 (GRCm39)	V347A	probably damaging	Het
Mff	A	G	1: 82,729,370 (GRCm39)	E270G	probably damaging	Het
Mroh2b	A	T	15: 4,929,985 (GRCm39)	I24F	possibly damaging	Het
Muc16	A	T	9: 18,430,596 (GRCm39)	Y8102*	probably null	Het
Myh14	A	T	7: 44,314,920 (GRCm39)	M1K	probably null	Het
Myo18b	T	A	5: 113,027,376 (GRCm39)		probably benign	Het
Neurl1a	C	A	19: 47,245,873 (GRCm39)	P502T	probably damaging	Het
Nrp1	G	A	8: 129,194,997 (GRCm39)	W484*	probably null	Het
Or2y3	T	A	17: 38,393,452 (GRCm39)	H139L	possibly damaging	Het
Or4f47	T	A	2: 111,972,602 (GRCm39)	I104N	probably benign	Het
Pcdhac1	T	C	18: 37,224,807 (GRCm39)	V540A	possibly damaging	Het
Pcdhga9	A	G	18: 37,870,007 (GRCm39)		probably benign	Het
Pm20d1	A	C	1: 131,729,501 (GRCm39)	N176T	probably benign	Het
Pnldc1	T	C	17: 13,116,189 (GRCm39)	D271G	probably damaging	Het
Pold3	A	G	7: 99,761,508 (GRCm39)	V63A	probably damaging	Het
Rbm18	A	C	2: 36,017,196 (GRCm39)	S61A	probably benign	Het
Rdh14	T	C	12: 10,444,551 (GRCm39)	L134P	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rtel1	A	G	2: 180,964,138 (GRCm39)	T46A	probably damaging	Het
Rtn3	T	C	19: 7,412,363 (GRCm39)	I823V	probably damaging	Het
S1pr1	A	G	3: 115,505,683 (GRCm39)	S304P	probably damaging	Het
Scfd2	A	G	5: 74,692,024 (GRCm39)	V86A	probably benign	Het
Scgb1a1	C	T	19: 9,062,599 (GRCm39)	V66M	probably damaging	Het
Sec31a	A	T	5: 100,526,721 (GRCm39)	M46K		Het
Sgsm1	A	G	5: 113,403,134 (GRCm39)	M971T	probably damaging	Het
Slc5a11	T	C	7: 122,864,951 (GRCm39)	I419T	probably benign	Het
Slco6d1	A	T	1: 98,394,431 (GRCm39)	T372S	possibly damaging	Het
Slx9	T	C	10: 77,350,229 (GRCm39)	N53S	probably benign	Het
Spata31	T	A	13: 65,068,679 (GRCm39)	Y276N	probably benign	Het
Sprr2k	C	T	3: 92,340,796 (GRCm39)	R49W	unknown	Het
Sspo	G	A	6: 48,434,547 (GRCm39)	C1013Y	probably damaging	Het
Ssr2	A	G	3: 88,487,190 (GRCm39)	R2G	possibly damaging	Het
St18	C	A	1: 6,898,229 (GRCm39)	T677K	probably benign	Het
Thap11	A	T	8: 106,582,527 (GRCm39)	I179F	probably damaging	Het
Trf	C	A	9: 103,089,130 (GRCm39)	G586C	probably damaging	Het
Umodl1	A	G	17: 31,192,770 (GRCm39)	N299S	probably benign	Het
Xrcc5	C	A	1: 72,351,595 (GRCm39)	A55E	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
R1442:Lzts1	UTSW	8	69,591,638 (GRCm39)	missense	probably damaging	0.99
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
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'- TTCTCTAGACGCTGGTTGC -3'
(R):5'- ACACAGGACTTGGAGAGTGC -3'

Sequencing Primer
(F):5'- TACATGGCCAAGTAGCTCTG -3'
(R):5'- ACTTGGAGAGTGCCCTGC -3'

Posted On

2020-06-30