Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Luzp1'

540078

Institutional Source

Beutler Lab

Gene Symbol

Luzp1

Ensembl Gene

ENSMUSG00000001089

Gene Name

leucine zipper protein 1

Synonyms

2700072H04Rik, Luzp

MMRRC Submission

045047-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136197072-136282091 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 136268124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 116 (R116*)

Ref Sequence

ENSEMBL: ENSMUSP00000130758 (fasta)

Gene Model

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

AlphaFold

Q8R4U7

Predicted Effect

probably null
Transcript: ENSMUST00000001116
AA Change: R116*

SMART Domains

Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: R116*

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 null
Transcript: ENSMUST00000063021
AA Change: R116*

SMART Domains

Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: R116*

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 null
Transcript: ENSMUST00000105849
AA Change: R116*

SMART Domains

Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: R116*

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 null
Transcript: ENSMUST00000170102
AA Change: R116*

SMART Domains

Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: R116*

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

0.9754

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,331 (GRCm39)	F198I	probably damaging	Het
Acy1	A	G	9: 106,314,826 (GRCm39)		probably null	Het
Adk	A	G	14: 21,126,376 (GRCm39)	M1V	probably null	Het
Ahi1	A	G	10: 20,839,590 (GRCm39)	D167G	probably benign	Het
Ankrd16	T	C	2: 11,791,054 (GRCm39)	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,251,351 (GRCm39)	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,100,769 (GRCm39)	M673I	probably damaging	Het
BC005624	T	C	2: 30,868,940 (GRCm39)	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,238,745 (GRCm39)	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,784,547 (GRCm39)	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,049,932 (GRCm39)		probably null	Het
Cep170	G	A	1: 176,589,003 (GRCm39)	L541F	possibly damaging	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Cgrrf1	T	A	14: 47,091,179 (GRCm39)	N234K	probably benign	Het
Ctrc	C	T	4: 141,568,879 (GRCm39)	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,091,945 (GRCm39)	V192M	possibly damaging	Het
Dhx38	A	T	8: 110,279,307 (GRCm39)	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,009,733 (GRCm39)	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,898,514 (GRCm39)	N3765K	possibly damaging	Het
Dnah17	C	A	11: 117,950,905 (GRCm39)	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,161,680 (GRCm39)	T306I	probably benign	Het
Efemp2	T	A	19: 5,530,273 (GRCm39)	C287S	probably damaging	Het
Efna1	T	C	3: 89,180,091 (GRCm39)	R143G	probably benign	Het
Emilin1	A	C	5: 31,074,421 (GRCm39)	N221H	probably damaging	Het
Epg5	A	G	18: 77,991,824 (GRCm39)	T174A	probably benign	Het
Fam184b	T	A	5: 45,690,243 (GRCm39)		probably null	Het
Fchsd2	T	A	7: 100,926,621 (GRCm39)	C570*	probably null	Het
Gm4787	A	T	12: 81,425,974 (GRCm39)	D61E	probably benign	Het
Gm7356	C	T	17: 14,221,925 (GRCm39)	G35R	probably damaging	Het
Gm8220	A	G	14: 44,525,645 (GRCm39)	T20A	probably damaging	Het
Hivep2	C	T	10: 14,004,245 (GRCm39)	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,733,692 (GRCm39)	V43A	probably damaging	Het
Klhl33	A	T	14: 51,129,373 (GRCm39)	C619S	probably benign	Het
Kmt2a	A	T	9: 44,740,558 (GRCm39)		probably benign	Het
Lax1	A	G	1: 133,607,896 (GRCm39)	C282R	probably benign	Het
Lrrd1	A	G	5: 3,901,395 (GRCm39)	K567E	probably benign	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Macrod2	A	T	2: 140,261,833 (GRCm39)	N38I	probably damaging	Het
Map3k14	A	T	11: 103,132,958 (GRCm39)	I80N	probably damaging	Het
Mcm9	A	G	10: 53,496,299 (GRCm39)	S368P	probably benign	Het
Mfge8	T	C	7: 78,793,049 (GRCm39)	D139G	probably benign	Het
Mmp19	A	T	10: 128,627,523 (GRCm39)	I54F	probably benign	Het
Myo15a	G	T	11: 60,390,320 (GRCm39)	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Myoc	A	G	1: 162,466,915 (GRCm39)	D28G	probably damaging	Het
Myrf	G	T	19: 10,196,924 (GRCm39)	N487K	probably damaging	Het
Omd	T	A	13: 49,743,710 (GRCm39)	F253L	probably damaging	Het
Or2ag19	G	T	7: 106,444,009 (GRCm39)	G64*	probably null	Het
Or5t5	C	G	2: 86,616,499 (GRCm39)	L142V	probably damaging	Het
Or6n1	G	A	1: 173,917,316 (GRCm39)	A237T	probably damaging	Het
Papss1	T	G	3: 131,305,732 (GRCm39)	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,632,675 (GRCm39)	F580Y	probably benign	Het
Polk	T	A	13: 96,653,189 (GRCm39)	K70N	probably damaging	Het
Ppig	T	A	2: 69,562,755 (GRCm39)	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,636,291 (GRCm39)	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Reln	T	C	5: 22,190,855 (GRCm39)	I1511V	probably benign	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Rpia	A	G	6: 70,750,424 (GRCm39)	V236A	probably benign	Het
Rpl10a	G	T	17: 28,548,424 (GRCm39)	V80L	probably benign	Het
Sap130	T	G	18: 31,799,407 (GRCm39)	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,120,193 (GRCm39)	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,864,778 (GRCm39)	S470P	probably benign	Het
Slc25a32	A	G	15: 38,960,984 (GRCm39)	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,771,668 (GRCm39)	S158P	probably benign	Het
Slc6a2	A	G	8: 93,722,653 (GRCm39)	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,151,936 (GRCm39)	T77K	probably benign	Het
Snd1	A	T	6: 28,626,100 (GRCm39)	D385V	probably benign	Het
Ssh3	A	T	19: 4,314,448 (GRCm39)	F369I	probably damaging	Het
Syk	A	G	13: 52,766,495 (GRCm39)		probably null	Het
Tbc1d16	A	G	11: 119,099,742 (GRCm39)	S211P	probably damaging	Het
Ttc3	A	G	16: 94,244,312 (GRCm39)	T1439A	probably benign	Het
Usp18	A	G	6: 121,229,473 (GRCm39)	M31V	probably benign	Het
Vav1	G	T	17: 57,609,330 (GRCm39)	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,655,439 (GRCm39)	V1863D	probably benign	Het
Xdh	T	A	17: 74,229,557 (GRCm39)	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,737,336 (GRCm39)		probably benign	Het
Zfp345	G	A	2: 150,315,331 (GRCm39)	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,654,667 (GRCm39)	V357L	probably benign	Het
Zfp712	A	T	13: 67,188,891 (GRCm39)	Y545*	probably null	Het
Zgrf1	T	C	3: 127,353,281 (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
R0106:Luzp1	UTSW	4	136,269,996 (GRCm39)	missense	probably damaging	0.97
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
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'- CTCGATGAGTTAGAGGAAGCTAC -3'
(R):5'- AGCGGTCCTCTGAAGATTCTAG -3'

Sequencing Primer
(F):5'- GACCTCCAGGACAAGGTGATC -3'
(R):5'- GAAGATTCTAGCTCTTTCACTTTGAC -3'

Posted On

2018-11-06