Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:Luzp2'

34783

Institutional Source

Beutler Lab

Gene Symbol

Luzp2

Ensembl Gene

ENSMUSG00000063297

Gene Name

leucine zipper protein 2

Synonyms

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

54835498-55268885 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55249446 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 271 (T271A)

Ref Sequence

ENSEMBL: ENSMUSP00000080979 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000082373
AA Change: T271A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080979
Gene: ENSMUSG00000063297
AA Change: T271A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206923

Meta Mutation Damage Score

0.0598

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Luzp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00974:Luzp2	APN	7	55075026	missense	probably damaging	1.00
IGL01793:Luzp2	APN	7	55172249	missense	probably damaging	1.00
IGL01908:Luzp2	APN	7	55172196	missense	probably damaging	1.00
IGL02538:Luzp2	APN	7	55211798	nonsense	probably null
IGL02727:Luzp2	APN	7	55172191	splice site	probably benign
R0564:Luzp2	UTSW	7	54835962	missense	probably damaging	1.00
R1581:Luzp2	UTSW	7	55249490	missense	possibly damaging	0.84
R1648:Luzp2	UTSW	7	55264270	splice site	probably null
R1752:Luzp2	UTSW	7	55264340	missense	possibly damaging	0.50
R1943:Luzp2	UTSW	7	55264302	missense	possibly damaging	0.61
R2294:Luzp2	UTSW	7	55172190	splice site	probably benign
R2295:Luzp2	UTSW	7	55172190	splice site	probably benign
R4539:Luzp2	UTSW	7	55063289	missense	probably damaging	0.99
R4611:Luzp2	UTSW	7	55063356	splice site	probably null
R4716:Luzp2	UTSW	7	54835962	missense	probably damaging	1.00
R4873:Luzp2	UTSW	7	55167248	missense	possibly damaging	0.69
R4875:Luzp2	UTSW	7	55167248	missense	possibly damaging	0.69
R5108:Luzp2	UTSW	7	55265290	missense	probably damaging	1.00
R6023:Luzp2	UTSW	7	55058067	missense	possibly damaging	0.78
R6034:Luzp2	UTSW	7	55167224	missense	probably damaging	1.00
R6034:Luzp2	UTSW	7	55167224	missense	probably damaging	1.00
R6412:Luzp2	UTSW	7	55058046	missense	probably damaging	1.00
R7116:Luzp2	UTSW	7	55265330	missense	possibly damaging	0.80
R7186:Luzp2	UTSW	7	54835829	start gained	probably benign
R7270:Luzp2	UTSW	7	55075026	missense	probably damaging	0.99
R7588:Luzp2	UTSW	7	55075090	critical splice donor site	probably null
R8036:Luzp2	UTSW	7	55075075	missense	probably damaging	1.00
R8078:Luzp2	UTSW	7	55052762	nonsense	probably null
RF014:Luzp2	UTSW	7	55172205	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTCCATTAGACCTCACTAATGCaaaaa -3'
(R):5'- ATGCTTAGAAAGTAGACATCACCCTCCC -3'

Sequencing Primer
(F):5'- ctggcatggcagcaaac -3'
(R):5'- CCCAAGAACATTCCATGATGGC -3'

Posted On

2013-05-09