Mutagenetix > Incidental Mutation

Incidental Mutation 'R7588:Luzp2'

587259

Institutional Source

Beutler Lab

Gene Symbol

Luzp2

Ensembl Gene

ENSMUSG00000063297

Gene Name

leucine zipper protein 2

Synonyms

9330154K17Rik

MMRRC Submission

045636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7588 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54485246-54918633 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 54724838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082373]

AlphaFold

Q8BGY3

Predicted Effect

probably null
Transcript: ENSMUST00000082373

SMART Domains

Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	131	146	N/A	INTRINSIC
coiled coil region	168	211	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine zipper protein. This protein is deleted in some patients with Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation (WAGR) syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice are viable, fertile, and show no overt abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	A	11: 83,215,348 (GRCm39)	D97E	probably benign	Het
Apbb1	G	T	7: 105,223,173 (GRCm39)	P146Q	probably benign	Het
Aste1	T	A	9: 105,274,590 (GRCm39)	S277T	possibly damaging	Het
Bnip5	T	C	17: 29,124,430 (GRCm39)	K291E	probably benign	Het
Cdk15	A	G	1: 59,383,458 (GRCm39)	D415G	possibly damaging	Het
Cep152	T	A	2: 125,411,546 (GRCm39)	E1256D	probably damaging	Het
Chd7	A	G	4: 8,864,039 (GRCm39)	N2643S	probably damaging	Het
Copg2	A	G	6: 30,788,526 (GRCm39)		probably null	Het
D130043K22Rik	T	A	13: 25,071,876 (GRCm39)	I940N	probably damaging	Het
Dnmt3a	A	G	12: 3,946,080 (GRCm39)	T312A	possibly damaging	Het
Dock5	A	G	14: 68,000,607 (GRCm39)		probably null	Het
Fam83g	A	T	11: 61,575,522 (GRCm39)	I55F	probably damaging	Het
Fanci	T	C	7: 79,084,017 (GRCm39)	F780L	possibly damaging	Het
Fhod3	G	T	18: 25,223,305 (GRCm39)	A884S	probably benign	Het
Gas6	T	C	8: 13,516,711 (GRCm39)	S596G	probably benign	Het
Gns	T	C	10: 121,226,563 (GRCm39)	V404A	probably benign	Het
Gpatch1	T	C	7: 34,991,173 (GRCm39)	N624D	probably damaging	Het
Hmcn1	T	C	1: 150,532,885 (GRCm39)	I3099M	possibly damaging	Het
Itga1	A	T	13: 115,104,785 (GRCm39)	S1080R	possibly damaging	Het
Kcnk15	T	C	2: 163,700,226 (GRCm39)	V155A	probably damaging	Het
Mapk8ip1	T	A	2: 92,216,984 (GRCm39)	D446V	possibly damaging	Het
Med1	T	C	11: 98,046,398 (GRCm39)	E1466G	unknown	Het
Mug1	A	G	6: 121,852,476 (GRCm39)	R855G	probably damaging	Het
Naalad2	C	A	9: 18,262,775 (GRCm39)	V374F	probably damaging	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nlrp5	A	G	7: 23,107,576 (GRCm39)	E83G	probably benign	Het
Nod2	T	C	8: 89,401,536 (GRCm39)	F901S	possibly damaging	Het
Nps	T	C	7: 134,870,508 (GRCm39)	V10A	probably benign	Het
Pbrm1	T	A	14: 30,806,900 (GRCm39)	V1109E	probably damaging	Het
Pcdh7	A	G	5: 57,877,246 (GRCm39)	D267G	probably damaging	Het
Pfkp	A	G	13: 6,698,673 (GRCm39)	Y15H	possibly damaging	Het
Pgap6	T	C	17: 26,341,017 (GRCm39)	Y176H	probably damaging	Het
Ppm1b	T	C	17: 85,320,997 (GRCm39)	S380P	probably benign	Het
Psg21	T	C	7: 18,381,134 (GRCm39)	N470D	probably benign	Het
Qrich2	T	C	11: 116,356,763 (GRCm39)	N29D	possibly damaging	Het
Reln	T	C	5: 22,090,566 (GRCm39)	T3431A	probably benign	Het
Rfc1	A	G	5: 65,429,850 (GRCm39)	V852A	probably damaging	Het
Rttn	T	G	18: 89,082,353 (GRCm39)	D1426E	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Styxl1	G	A	5: 135,799,130 (GRCm39)	P28L	probably damaging	Het
Tcl1b4	A	G	12: 105,168,641 (GRCm39)		probably benign	Het
Trav17	A	G	14: 54,044,302 (GRCm39)	D24G	probably benign	Het
Trim28	A	C	7: 12,763,347 (GRCm39)	D496A	probably damaging	Het
Trim29	T	C	9: 43,246,425 (GRCm39)	Y574H	probably damaging	Het
Trip12	G	T	1: 84,738,604 (GRCm39)	F750L	probably damaging	Het
Ubr3	C	A	2: 69,801,513 (GRCm39)	T1007K	probably damaging	Het
Zzz3	A	G	3: 152,128,405 (GRCm39)	Y7C	possibly damaging	Het

Other mutations in Luzp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:Luzp2	APN	7	54,724,774 (GRCm39)	missense	probably damaging	1.00
IGL01793:Luzp2	APN	7	54,821,997 (GRCm39)	missense	probably damaging	1.00
IGL01908:Luzp2	APN	7	54,821,944 (GRCm39)	missense	probably damaging	1.00
IGL02538:Luzp2	APN	7	54,861,546 (GRCm39)	nonsense	probably null
IGL02727:Luzp2	APN	7	54,821,939 (GRCm39)	splice site	probably benign
R0257:Luzp2	UTSW	7	54,899,194 (GRCm39)	missense	probably benign	0.17
R0564:Luzp2	UTSW	7	54,485,710 (GRCm39)	missense	probably damaging	1.00
R1581:Luzp2	UTSW	7	54,899,238 (GRCm39)	missense	possibly damaging	0.84
R1648:Luzp2	UTSW	7	54,914,018 (GRCm39)	splice site	probably null
R1752:Luzp2	UTSW	7	54,914,088 (GRCm39)	missense	possibly damaging	0.50
R1943:Luzp2	UTSW	7	54,914,050 (GRCm39)	missense	possibly damaging	0.61
R2294:Luzp2	UTSW	7	54,821,938 (GRCm39)	splice site	probably benign
R2295:Luzp2	UTSW	7	54,821,938 (GRCm39)	splice site	probably benign
R4539:Luzp2	UTSW	7	54,713,037 (GRCm39)	missense	probably damaging	0.99
R4611:Luzp2	UTSW	7	54,713,104 (GRCm39)	splice site	probably null
R4716:Luzp2	UTSW	7	54,485,710 (GRCm39)	missense	probably damaging	1.00
R4873:Luzp2	UTSW	7	54,816,996 (GRCm39)	missense	possibly damaging	0.69
R4875:Luzp2	UTSW	7	54,816,996 (GRCm39)	missense	possibly damaging	0.69
R5108:Luzp2	UTSW	7	54,915,038 (GRCm39)	missense	probably damaging	1.00
R6023:Luzp2	UTSW	7	54,707,815 (GRCm39)	missense	possibly damaging	0.78
R6034:Luzp2	UTSW	7	54,816,972 (GRCm39)	missense	probably damaging	1.00
R6034:Luzp2	UTSW	7	54,816,972 (GRCm39)	missense	probably damaging	1.00
R6412:Luzp2	UTSW	7	54,707,794 (GRCm39)	missense	probably damaging	1.00
R7116:Luzp2	UTSW	7	54,915,078 (GRCm39)	missense	possibly damaging	0.80
R7186:Luzp2	UTSW	7	54,485,577 (GRCm39)	start gained	probably benign
R7270:Luzp2	UTSW	7	54,724,774 (GRCm39)	missense	probably damaging	0.99
R8036:Luzp2	UTSW	7	54,724,823 (GRCm39)	missense	probably damaging	1.00
R8078:Luzp2	UTSW	7	54,702,510 (GRCm39)	nonsense	probably null
R8729:Luzp2	UTSW	7	54,816,985 (GRCm39)	missense	probably damaging	1.00
R9287:Luzp2	UTSW	7	54,914,108 (GRCm39)	splice site	probably benign
R9652:Luzp2	UTSW	7	54,702,580 (GRCm39)	missense	probably damaging	1.00
R9653:Luzp2	UTSW	7	54,702,580 (GRCm39)	missense	probably damaging	1.00
RF014:Luzp2	UTSW	7	54,821,953 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTACTCTTCATCACCTTGATTG -3'
(R):5'- CACTGTGATGATTATCATTGATAGGGG -3'

Sequencing Primer
(F):5'- CACCTTGATTGATTTCATTGTATCAG -3'
(R):5'- ATCATTGATAGGGGTTTCTCTGC -3'

Posted On

2019-10-24