Mutagenetix > Incidental Mutation

Incidental Mutation 'R9012:Lzts1'

685697

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

068842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69585321-69636877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69593550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 19 (R19H)

Ref Sequence

ENSEMBL: ENSMUSP00000039397 (fasta)

Gene Model

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

AlphaFold

P60853

Predicted Effect

probably damaging
Transcript: ENSMUST00000037049
AA Change: R19H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039397
Gene: ENSMUSG00000036306
AA Change: R19H

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: R19H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139117
Gene: ENSMUSG00000036306
AA Change: R19H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	T	C	8: 125,290,954 (GRCm39)	N118D	probably benign	Het
Apol8	T	C	15: 77,634,324 (GRCm39)	D84G	probably benign	Het
Arl6ip5	T	A	6: 97,187,838 (GRCm39)	D19E	probably benign	Het
B3gnt3	G	T	8: 72,145,673 (GRCm39)	H232N	probably damaging	Het
Btbd10	T	C	7: 112,921,964 (GRCm39)	K347R	probably damaging	Het
Capn5	C	T	7: 97,814,050 (GRCm39)		probably benign	Het
Ccdc181	C	T	1: 164,110,062 (GRCm39)	R390W	probably damaging	Het
Cdc42bpa	T	C	1: 179,859,077 (GRCm39)	V93A		Het
Cfap91	T	C	16: 38,122,335 (GRCm39)	E712G	probably damaging	Het
Clcn1	A	G	6: 42,268,567 (GRCm39)	I191V	possibly damaging	Het
Coro1c	T	C	5: 113,988,737 (GRCm39)	D202G	probably damaging	Het
Cul9	A	G	17: 46,854,447 (GRCm39)	I85T	probably benign	Het
Cyp2c55	C	T	19: 39,030,560 (GRCm39)	T464I	probably benign	Het
Dlgap1	G	A	17: 70,823,182 (GRCm39)	E56K	possibly damaging	Het
Dnajc6	T	C	4: 101,470,156 (GRCm39)	F298L	probably damaging	Het
E130311K13Rik	A	T	3: 63,822,934 (GRCm39)	W237R	probably damaging	Het
Efcab3	G	A	11: 104,711,347 (GRCm39)		probably null	Het
Fes	T	A	7: 80,032,884 (GRCm39)	D287V	possibly damaging	Het
Fstl5	G	T	3: 76,567,027 (GRCm39)	W557L	probably damaging	Het
Gad2	A	G	2: 22,580,263 (GRCm39)	N555D	possibly damaging	Het
Gm10277	C	T	11: 77,676,848 (GRCm39)	R41K	unknown	Het
Gm21834	T	C	17: 58,049,162 (GRCm39)	E18G	probably null	Het
Hnrnpul2	T	C	19: 8,801,829 (GRCm39)	F346L	possibly damaging	Het
Hspa4	A	T	11: 53,159,402 (GRCm39)	V524E	probably benign	Het
Ikbke	T	C	1: 131,201,190 (GRCm39)	I207V	probably damaging	Het
Iqsec3	T	C	6: 121,389,996 (GRCm39)	I492V	unknown	Het
Itsn1	C	A	16: 91,645,849 (GRCm39)	F846L	unknown	Het
Ldhal6b	A	T	17: 5,467,942 (GRCm39)	Y331N	probably damaging	Het
Lrrc37a	T	G	11: 103,389,978 (GRCm39)	T1816P	probably benign	Het
Mast4	T	A	13: 102,934,606 (GRCm39)	T338S	probably benign	Het
Mst1r	A	G	9: 107,791,960 (GRCm39)	E832G	probably benign	Het
Myom1	T	G	17: 71,407,103 (GRCm39)	D1173E	probably benign	Het
Nlrp9c	T	A	7: 26,074,733 (GRCm39)	I821F	probably benign	Het
Obscn	T	C	11: 59,021,423 (GRCm39)	K806E	probably benign	Het
Or2ag13	T	C	7: 106,313,115 (GRCm39)	M258V	probably benign	Het
Or4c120	A	G	2: 89,000,929 (GRCm39)	I209T	possibly damaging	Het
Or6c215	A	C	10: 129,637,471 (GRCm39)	S308A	probably benign	Het
Palld	T	A	8: 62,173,697 (GRCm39)	S321C	possibly damaging	Het
Pank4	C	A	4: 155,062,847 (GRCm39)		probably benign	Het
Prr35	A	G	17: 26,166,685 (GRCm39)	L284P	probably benign	Het
Psg26	T	A	7: 18,216,596 (GRCm39)	H81L	probably benign	Het
Ptprq	C	T	10: 107,489,411 (GRCm39)	E905K	probably benign	Het
Siglecg	T	A	7: 43,060,523 (GRCm39)	L301Q	probably damaging	Het
Slc25a15	A	G	8: 22,867,878 (GRCm39)	W301R	probably benign	Het
Slco1b2	T	A	6: 141,602,554 (GRCm39)	V169D	probably damaging	Het
Sned1	T	C	1: 93,212,320 (GRCm39)	V1174A	probably damaging	Het
Sorl1	A	G	9: 41,982,491 (GRCm39)	V363A	probably damaging	Het
Sppl3	C	A	5: 115,226,987 (GRCm39)	P239T	probably benign	Het
Stox1	A	T	10: 62,500,611 (GRCm39)	S650T	probably benign	Het
Tbc1d9b	A	G	11: 50,040,688 (GRCm39)	T402A	probably benign	Het
Tmem104	A	T	11: 115,092,144 (GRCm39)	E84D	probably benign	Het
Tox4	T	C	14: 52,523,208 (GRCm39)	V56A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Treml2	A	G	17: 48,615,090 (GRCm39)	T192A	possibly damaging	Het
Vmn2r110	T	C	17: 20,803,627 (GRCm39)	D316G	probably damaging	Het
Vmn2r5	A	T	3: 64,411,915 (GRCm39)	W218R	probably damaging	Het
Vwa3b	A	G	1: 37,124,391 (GRCm39)	S330G	probably benign	Het
Wdr81	A	G	11: 75,339,971 (GRCm39)	V220A	possibly damaging	Het
Zbbx	A	G	3: 74,968,960 (GRCm39)	S504P	possibly damaging	Het
Zfp68	A	T	5: 138,605,283 (GRCm39)	C347S	probably damaging	Het
Zfp936	T	A	7: 42,839,416 (GRCm39)	C294*	probably null	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
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
R9545:Lzts1	UTSW	8	69,591,286 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAATCTACTCCGGTCTGACC -3'
(R):5'- CCCAGGCTCTAAGAAGCTTTTG -3'

Sequencing Primer
(F):5'- CACTGGACAGGGCTGTGTAGTC -3'
(R):5'- GCTCTGACCACAGTCCCCTG -3'

Posted On

2021-10-11