Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02603:Lztr1'

300156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lztr1

Ensembl Gene

ENSMUSG00000022761

Gene Name

leucine-zipper-like transcriptional regulator, 1

Synonyms

1200003E21Rik, TCFL2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

IGL02603

Quality Score

Status

Chromosome

Chromosomal Location

17508688-17526333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17509686 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 84 (N84K)

Ref Sequence

ENSEMBL: ENSMUSP00000023444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023444] [ENSMUST00000023448] [ENSMUST00000115681] [ENSMUST00000115685] [ENSMUST00000231292] [ENSMUST00000231994] [ENSMUST00000232242] [ENSMUST00000232372]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023444
AA Change: N84K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023444
Gene: ENSMUSG00000022761
AA Change: N84K

Domain	Start	End	E-Value	Type
Pfam:Kelch_6	64	103	1.1e-7	PFAM
Pfam:Kelch_1	64	105	1.7e-7	PFAM
Pfam:Kelch_4	64	113	4.7e-10	PFAM
Pfam:Kelch_3	74	123	3.1e-10	PFAM
Pfam:Kelch_5	111	152	7.2e-9	PFAM
Pfam:Kelch_1	114	161	2.8e-7	PFAM
Pfam:Kelch_2	114	163	1e-7	PFAM
Pfam:Kelch_4	114	170	1.9e-6	PFAM
Pfam:Kelch_3	124	180	9.1e-9	PFAM
Pfam:Kelch_4	171	224	6.1e-6	PFAM
Pfam:Kelch_3	181	232	6e-7	PFAM
Pfam:Kelch_1	224	267	1e-6	PFAM
Pfam:Kelch_4	225	278	6.2e-6	PFAM
Pfam:Kelch_3	234	289	2.2e-8	PFAM
Pfam:Kelch_1	280	325	7.7e-10	PFAM
Pfam:Kelch_2	280	325	4.3e-7	PFAM
Pfam:Kelch_6	280	325	9.6e-9	PFAM
Pfam:Kelch_4	280	329	2.5e-8	PFAM
BTB	440	571	4.16e-4	SMART
BTB	664	765	2.95e-18	SMART
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023448

SMART Domains

Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763

Domain	Start	End	E-Value	Type
Pfam:Rieske	68	161	3.6e-18	PFAM
Pfam:Rieske_2	70	166	7.7e-11	PFAM
Pfam:Pyr_redox_2	196	473	1.1e-34	PFAM
Pfam:Pyr_redox	334	416	7e-17	PFAM
Pfam:Reductase_C	512	591	9.4e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115681
AA Change: N84K

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111345
Gene: ENSMUSG00000022761
AA Change: N84K

Domain	Start	End	E-Value	Type
Pfam:Kelch_5	63	99	1.1e-6	PFAM
Pfam:Kelch_1	64	105	1.6e-8	PFAM
Pfam:Kelch_4	64	113	5.8e-9	PFAM
Pfam:Kelch_6	64	115	2.6e-9	PFAM
Pfam:Kelch_3	74	123	2.4e-11	PFAM
Pfam:Kelch_5	111	150	5.5e-10	PFAM
Pfam:Kelch_1	114	161	5.8e-8	PFAM
Pfam:Kelch_2	114	163	3.1e-8	PFAM
Pfam:Kelch_4	114	170	1e-9	PFAM
Pfam:Kelch_3	124	180	2.5e-10	PFAM
Pfam:Kelch_5	168	204	6.1e-7	PFAM
Pfam:Kelch_4	171	224	7.9e-8	PFAM
Pfam:Kelch_3	181	233	9.1e-8	PFAM
Pfam:Kelch_4	223	279	3.1e-7	PFAM
Pfam:Kelch_1	224	267	1.9e-6	PFAM
Pfam:Kelch_3	234	289	1.5e-8	PFAM
Pfam:Kelch_1	280	325	2.9e-10	PFAM
Pfam:Kelch_2	280	325	1.3e-7	PFAM
Pfam:Kelch_6	280	326	2.4e-9	PFAM
Pfam:Kelch_4	280	335	1.7e-9	PFAM
Pfam:Kelch_5	381	419	2.8e-7	PFAM
BTB	440	571	4.16e-4	SMART
BTB	664	797	1.7e-18	SMART
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115685

SMART Domains

Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763

Domain	Start	End	E-Value	Type
Pfam:Rieske	68	161	6.5e-23	PFAM
Pfam:Rieske_2	70	166	1.4e-10	PFAM
Pfam:Pyr_redox_2	195	493	1.6e-65	PFAM
Pfam:Pyr_redox	334	416	7.3e-18	PFAM
Pfam:Reductase_C	512	586	9.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152077

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231292
AA Change: N84K

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231800

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231994
AA Change: N84K

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000232242

Predicted Effect

probably benign
Transcript: ENSMUST00000232372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232644

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the BR-C, ttk and bab-kelch superfamily that, in humans, localizes to the Golgi network and is associated with the ras / mitogen-activated protein kinase pathway. Loss-of-function mutations in the human ortholog are associated with glioblastoma multiforme, schwannomatosis, Noonan syndrome, and DiGeorge syndrome. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,488,952	S3457P	possibly damaging	Het
Aipl1	A	G	11: 72,036,700	I63T	possibly damaging	Het
Atp7b	C	T	8: 21,994,776	V1307M	possibly damaging	Het
Cdc20b	T	C	13: 113,078,755	S286P	possibly damaging	Het
Eif2ak4	G	A	2: 118,450,326	R946H	probably damaging	Het
Fam98c	A	G	7: 29,154,448	S232P	probably damaging	Het
Glt1d1	G	T	5: 127,632,345	R21L	probably damaging	Het
Gm5286	A	T	3: 94,198,437	T21S	possibly damaging	Het
Gm5422	A	G	10: 31,249,440		noncoding transcript	Het
Haao	T	A	17: 83,835,541	D125V	probably benign	Het
Hipk1	A	G	3: 103,750,272	V832A	probably damaging	Het
Lrrtm4	C	A	6: 80,022,984	Q460K	possibly damaging	Het
Lyar	A	G	5: 38,234,061	N368S	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Ndufa8	C	A	2: 36,044,458	C36F	probably damaging	Het
Olfr136	T	A	17: 38,335,513	S119T	probably damaging	Het
Olfr739	T	A	14: 50,425,200	V227E	probably damaging	Het
Psg19	A	G	7: 18,792,768	S146P	probably benign	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het

Other mutations in Lztr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Lztr1	APN	16	17517450	splice site	probably benign
IGL01152:Lztr1	APN	16	17522453	missense	probably damaging	1.00
IGL01501:Lztr1	APN	16	17522391	unclassified	probably null
IGL01512:Lztr1	APN	16	17522391	unclassified	probably null
IGL01514:Lztr1	APN	16	17522391	unclassified	probably null
IGL01516:Lztr1	APN	16	17522391	unclassified	probably null
IGL01933:Lztr1	APN	16	17520591	missense	probably damaging	1.00
IGL03012:Lztr1	APN	16	17521484	missense	possibly damaging	0.92
IGL03191:Lztr1	APN	16	17518528	missense	probably damaging	1.00
R0331:Lztr1	UTSW	16	17524237	unclassified	probably benign
R0717:Lztr1	UTSW	16	17516048	unclassified	probably null
R1511:Lztr1	UTSW	16	17509670	missense	probably damaging	1.00
R1925:Lztr1	UTSW	16	17523383	missense	probably damaging	1.00
R2062:Lztr1	UTSW	16	17509670	missense	probably damaging	1.00
R3694:Lztr1	UTSW	16	17509061	missense	possibly damaging	0.90
R3935:Lztr1	UTSW	16	17522195	nonsense	probably null
R4645:Lztr1	UTSW	16	17524091	unclassified	probably benign
R5624:Lztr1	UTSW	16	17512129	splice site	probably benign

Posted On

2015-04-16