Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Luzp1'

63327

Institutional Source

Beutler Lab

Gene Symbol

Luzp1

Ensembl Gene

ENSMUSG00000001089

Gene Name

leucine zipper protein 1

Synonyms

2700072H04Rik, Luzp

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

136197072-136282091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136269996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 740 (K740E)

Ref Sequence

ENSEMBL: ENSMUSP00000130758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001116] [ENSMUST00000063021] [ENSMUST00000105849] [ENSMUST00000129230] [ENSMUST00000168936] [ENSMUST00000170102]

AlphaFold

Q8R4U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000001116
AA Change: K740E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: K740E

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	96	233	4e-3	SMART
coiled coil region	264	350	N/A	INTRINSIC
internal_repeat_1	569	638	9.92e-6	PROSPERO
low complexity region	756	769	N/A	INTRINSIC
low complexity region	783	796	N/A	INTRINSIC
internal_repeat_1	986	1056	9.92e-6	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000063021
AA Change: K740E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: K740E

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	96	233	4e-3	SMART
coiled coil region	264	350	N/A	INTRINSIC
internal_repeat_1	569	638	9.92e-6	PROSPERO
low complexity region	756	769	N/A	INTRINSIC
low complexity region	783	796	N/A	INTRINSIC
internal_repeat_1	986	1056	9.92e-6	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000105849
AA Change: K740E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: K740E

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	96	233	4e-3	SMART
coiled coil region	264	350	N/A	INTRINSIC
internal_repeat_1	569	638	9.92e-6	PROSPERO
low complexity region	756	769	N/A	INTRINSIC
low complexity region	783	796	N/A	INTRINSIC
internal_repeat_1	986	1056	9.92e-6	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000129230

SMART Domains

Protein: ENSMUSP00000128591
Gene: ENSMUSG00000001089

Domain	Start	End	E-Value	Type
coiled coil region	11	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168936

Predicted Effect

probably damaging
Transcript: ENSMUST00000170102
AA Change: K740E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: K740E

Domain	Start	End	E-Value	Type
SCOP:d1fxkc_	96	233	4e-3	SMART
coiled coil region	264	350	N/A	INTRINSIC
internal_repeat_1	569	638	9.92e-6	PROSPERO
low complexity region	756	769	N/A	INTRINSIC
low complexity region	783	796	N/A	INTRINSIC
internal_repeat_1	986	1056	9.92e-6	PROSPERO

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (84/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Gene inactivation causes defective neural tube closure (exencephaly) and massive apoptosis in the hindbrain. Despite the incomplete penetrance of NTD, all homozygotes die perinatally due to complex cardiovascular anomalies. Other defects include an eyelid fusion defect, omphalocele and cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,221,123 (GRCm39)	N276S	possibly damaging	Het
Arhgef25	A	G	10: 127,019,879 (GRCm39)		probably null	Het
Asic4	T	C	1: 75,427,771 (GRCm39)	V99A	probably benign	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
B3galnt2	T	C	13: 14,170,378 (GRCm39)	S243P	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Ckap5	T	C	2: 91,408,550 (GRCm39)	I915T	possibly damaging	Het
Ckap5	T	A	2: 91,446,185 (GRCm39)	I1836N	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cramp1	A	G	17: 25,191,350 (GRCm39)	V1037A	probably benign	Het
Cspg5	C	A	9: 110,075,600 (GRCm39)	P112Q	probably damaging	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H2-M5	A	G	17: 37,300,034 (GRCm39)	F47L	possibly damaging	Het
Hsdl1	T	A	8: 120,292,517 (GRCm39)	S254C	probably damaging	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
Kif14	T	C	1: 136,407,662 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lama3	T	C	18: 12,537,039 (GRCm39)	V228A	probably damaging	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Myo1a	A	G	10: 127,555,749 (GRCm39)	I913V	probably benign	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Or8d6	GC	G	9: 39,854,119 (GRCm39)		probably null	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Plec	C	T	15: 76,060,518 (GRCm39)	E3162K	probably damaging	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Pop7	A	G	5: 137,499,911 (GRCm39)	*141Q	probably null	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Scube2	A	G	7: 109,446,115 (GRCm39)		probably benign	Het
Serpinb10	T	A	1: 107,474,474 (GRCm39)	L212Q	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Timmdc1	A	C	16: 38,342,724 (GRCm39)	L58R	probably damaging	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmem241	A	T	18: 12,239,066 (GRCm39)		probably benign	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	Het

Other mutations in Luzp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Luzp1	APN	4	136,270,087 (GRCm39)	missense	probably damaging	1.00
IGL01766:Luzp1	APN	4	136,270,084 (GRCm39)	missense	possibly damaging	0.92
IGL01868:Luzp1	APN	4	136,270,048 (GRCm39)	missense	probably damaging	1.00
IGL03230:Luzp1	APN	4	136,270,189 (GRCm39)	missense	probably benign	0.02
FR4548:Luzp1	UTSW	4	136,270,499 (GRCm39)	small insertion	probably benign
FR4737:Luzp1	UTSW	4	136,270,507 (GRCm39)	small insertion	probably benign
R0674:Luzp1	UTSW	4	136,270,768 (GRCm39)	missense	possibly damaging	0.85
R0676:Luzp1	UTSW	4	136,269,996 (GRCm39)	missense	probably damaging	0.97
R1103:Luzp1	UTSW	4	136,268,041 (GRCm39)	missense	possibly damaging	0.87
R1541:Luzp1	UTSW	4	136,270,636 (GRCm39)	missense	probably damaging	1.00
R1812:Luzp1	UTSW	4	136,269,642 (GRCm39)	missense	probably benign	0.03
R3924:Luzp1	UTSW	4	136,270,168 (GRCm39)	missense	probably damaging	1.00
R4022:Luzp1	UTSW	4	136,269,504 (GRCm39)	missense	probably benign	0.02
R4449:Luzp1	UTSW	4	136,268,174 (GRCm39)	missense	probably damaging	1.00
R4976:Luzp1	UTSW	4	136,270,708 (GRCm39)	missense	possibly damaging	0.69
R5119:Luzp1	UTSW	4	136,270,708 (GRCm39)	missense	possibly damaging	0.69
R5411:Luzp1	UTSW	4	136,270,653 (GRCm39)	missense	possibly damaging	0.59
R5659:Luzp1	UTSW	4	136,269,787 (GRCm39)	missense	probably damaging	1.00
R5765:Luzp1	UTSW	4	136,268,340 (GRCm39)	missense	probably damaging	0.98
R5828:Luzp1	UTSW	4	136,267,993 (GRCm39)	missense	probably damaging	1.00
R6059:Luzp1	UTSW	4	136,268,791 (GRCm39)	missense	probably benign	0.35
R6147:Luzp1	UTSW	4	136,268,374 (GRCm39)	missense	probably damaging	1.00
R6181:Luzp1	UTSW	4	136,270,578 (GRCm39)	missense	probably benign	0.01
R6200:Luzp1	UTSW	4	136,268,577 (GRCm39)	missense	probably benign	0.12
R6368:Luzp1	UTSW	4	136,269,091 (GRCm39)	missense	probably benign	0.24
R6581:Luzp1	UTSW	4	136,267,942 (GRCm39)	missense	probably damaging	1.00
R6695:Luzp1	UTSW	4	136,272,609 (GRCm39)	missense	possibly damaging	0.83
R6932:Luzp1	UTSW	4	136,268,124 (GRCm39)	nonsense	probably null
R6998:Luzp1	UTSW	4	136,270,755 (GRCm39)	missense	probably damaging	1.00
R7529:Luzp1	UTSW	4	136,268,243 (GRCm39)	missense	probably damaging	1.00
R7878:Luzp1	UTSW	4	136,269,163 (GRCm39)	missense	probably benign	0.00
R8077:Luzp1	UTSW	4	136,270,402 (GRCm39)	missense	probably damaging	1.00
R8154:Luzp1	UTSW	4	136,269,195 (GRCm39)	missense	possibly damaging	0.47
R8292:Luzp1	UTSW	4	136,269,764 (GRCm39)	missense	probably benign	0.01
R8511:Luzp1	UTSW	4	136,268,650 (GRCm39)	missense	probably damaging	1.00
R8922:Luzp1	UTSW	4	136,270,233 (GRCm39)	missense	probably damaging	1.00
R9094:Luzp1	UTSW	4	136,272,562 (GRCm39)	missense	probably damaging	1.00
R9402:Luzp1	UTSW	4	136,270,493 (GRCm39)	missense	probably damaging	1.00
R9704:Luzp1	UTSW	4	136,268,604 (GRCm39)	missense	probably benign	0.01
R9756:Luzp1	UTSW	4	136,270,048 (GRCm39)	missense	probably damaging	1.00
RF028:Luzp1	UTSW	4	136,270,507 (GRCm39)	small insertion	probably benign
RF033:Luzp1	UTSW	4	136,270,507 (GRCm39)	small insertion	probably benign
RF040:Luzp1	UTSW	4	136,270,507 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTGCCGTGTCATCAAATCCAG -3'
(R):5'- TCAGCTTCTGTGAGCTGCAAGG -3'

Sequencing Primer
(F):5'- GTTACTGCCAAGTTGGTGAACAC -3'
(R):5'- AGCTGACATGGTTGCTAATTGC -3'

Posted On

2013-07-30