Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Luzp2'

34783

Institutional Source

Beutler Lab

Gene Symbol

Luzp2

Ensembl Gene

ENSMUSG00000063297

Gene Name

leucine zipper protein 2

Synonyms

9330154K17Rik

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

54485246-54918633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54899194 bp (GRCm39)

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]

AlphaFold

Q8BGY3

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
Aatf	T	A	11: 84,401,107 (GRCm39)	E171D	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgre5	T	A	8: 84,458,624 (GRCm39)	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,717,790 (GRCm39)	M256L	probably benign	Het
Alk	A	T	17: 72,910,490 (GRCm39)	L72Q	probably damaging	Het
Ano2	C	A	6: 125,857,676 (GRCm39)	A505E	probably benign	Het
Bcas3	A	G	11: 85,712,865 (GRCm39)	K908E	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Car2	C	G	3: 14,965,037 (GRCm39)	H224D	probably benign	Het
Cfh	T	C	1: 140,071,773 (GRCm39)	D287G	probably benign	Het
Disp3	G	T	4: 148,335,211 (GRCm39)	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,661,671 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,708,123 (GRCm39)	E1281G	probably damaging	Het
Dmxl1	T	A	18: 50,088,870 (GRCm39)		probably benign	Het
Dtx3	T	C	10: 127,028,761 (GRCm39)	D159G	probably benign	Het
Ets2	T	A	16: 95,513,245 (GRCm39)	C140*	probably null	Het
Fbf1	T	C	11: 116,045,917 (GRCm39)	I226V	probably benign	Het
Fgd6	T	A	10: 93,879,777 (GRCm39)	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898 (GRCm39)	T179A	probably benign	Het
Galnt10	T	C	11: 57,671,904 (GRCm39)	M398T	probably damaging	Het
Grk5	G	T	19: 61,065,068 (GRCm39)		probably benign	Het
Gse1	A	G	8: 121,299,073 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,259,176 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,861,052 (GRCm39)		probably null	Het
Lama4	T	C	10: 38,970,880 (GRCm39)		probably benign	Het
Mdn1	T	A	4: 32,693,534 (GRCm39)	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,705,649 (GRCm39)		probably benign	Het
Msh5	G	C	17: 35,251,840 (GRCm39)	R407G	probably damaging	Het
Myo1c	A	T	11: 75,556,342 (GRCm39)		probably null	Het
Nek5	T	C	8: 22,613,688 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,728 (GRCm39)	I894V	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Pde4a	C	T	9: 21,103,717 (GRCm39)	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,150,930 (GRCm39)	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,660,080 (GRCm39)	S139N	probably benign	Het
Prob1	T	C	18: 35,786,092 (GRCm39)	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,495,382 (GRCm39)	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,589,842 (GRCm39)	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,664 (GRCm39)	M199L	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,682,761 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,192,819 (GRCm39)	S369C	possibly damaging	Het
St18	T	A	1: 6,890,186 (GRCm39)	F539L	probably benign	Het
Stam2	C	T	2: 52,584,794 (GRCm39)	G500D	possibly damaging	Het
Stx16	G	A	2: 173,938,754 (GRCm39)	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610 (GRCm39)	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,765,904 (GRCm39)	S512N	probably benign	Het
Tiam2	T	C	17: 3,501,088 (GRCm39)	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343 (GRCm39)	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,778,556 (GRCm39)	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,741,045 (GRCm39)	S1264L	probably benign	Het
Ttn	T	A	2: 76,640,775 (GRCm39)	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,249,889 (GRCm39)	T794I	probably damaging	Het
Vmn2r52	T	A	7: 9,904,982 (GRCm39)	R286*	probably null	Het
Vps53	A	T	11: 76,068,211 (GRCm39)		probably benign	Het
Wdr18	A	G	10: 79,796,953 (GRCm39)		probably benign	Het
Wdr31	A	G	4: 62,378,755 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,407,706 (GRCm39)	K47*	probably null	Het
Zfp983	A	G	17: 21,880,356 (GRCm39)	T95A	probably benign	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
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
R7588:Luzp2	UTSW	7	54,724,838 (GRCm39)	critical splice donor site	probably null
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'- AGCTTCCATTAGACCTCACTAATGCaaaaa -3'
(R):5'- ATGCTTAGAAAGTAGACATCACCCTCCC -3'

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

Posted On

2013-05-09