Mutagenetix > Incidental Mutation

Incidental Mutation 'R5411:Luzp1'

427462

Institutional Source

Beutler Lab

Gene Symbol

Luzp1

Ensembl Gene

ENSMUSG00000001089

Gene Name

leucine zipper protein 1

Synonyms

Luzp, 2700072H04Rik

MMRRC Submission

042980-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R5411 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136469761-136554780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 136543342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 959 (Q959K)

Ref Sequence

ENSEMBL: ENSMUSP00000130758 (fasta)

Gene Model

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

AlphaFold

Q8R4U7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001116
AA Change: Q959K

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: Q959K

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

possibly damaging
Transcript: ENSMUST00000063021
AA Change: Q959K

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: Q959K

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

possibly damaging
Transcript: ENSMUST00000105849
AA Change: Q959K

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: Q959K

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

possibly damaging
Transcript: ENSMUST00000170102
AA Change: Q959K

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: Q959K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	A	9: 53,582,646	V392F	probably damaging	Het
Ache	C	T	5: 137,290,064	P11S	possibly damaging	Het
Ache	T	A	5: 137,290,430		probably null	Het
Acoxl	A	T	2: 127,854,901	H23L	probably benign	Het
Adamtsl1	G	A	4: 86,388,413		probably null	Het
Adar	T	A	3: 89,739,212	F45I	probably benign	Het
Adgrf4	A	C	17: 42,667,213	L413R	probably damaging	Het
Atp6v1g3	A	T	1: 138,287,889	I96F	probably benign	Het
Brsk2	T	C	7: 142,000,857	M653T	probably benign	Het
Cacna1s	G	T	1: 136,105,811	V1275L	probably benign	Het
Ces3b	T	C	8: 105,088,632	V5A	possibly damaging	Het
Chpt1	A	T	10: 88,477,107	I281N	probably damaging	Het
Col10a1	A	G	10: 34,394,557	E175G	probably damaging	Het
Col27a1	T	C	4: 63,224,665	S197P	probably damaging	Het
Csmd1	T	A	8: 15,910,471	R3315W	probably damaging	Het
Ctnna2	T	C	6: 77,114,931	E443G	probably damaging	Het
Dhx9	G	T	1: 153,481,223	S93R	probably benign	Het
Efcab8	A	G	2: 153,783,756	H112R	probably damaging	Het
Eif3d	A	T	15: 77,959,687	N486K	probably damaging	Het
Esp8	C	T	17: 40,530,018	R57*	probably null	Het
Eya3	A	T	4: 132,689,779	I130F	probably damaging	Het
Fat2	G	T	11: 55,252,226	L4266I	probably benign	Het
Fras1	T	A	5: 96,645,160	D983E	probably benign	Het
Gcc2	T	C	10: 58,270,969	S640P	probably damaging	Het
Gm13119	T	A	4: 144,361,637	M1K	probably null	Het
Gys2	C	T	6: 142,448,421	G464R	probably damaging	Het
Heatr5a	G	A	12: 51,888,243	T1659I	probably damaging	Het
Il17ra	A	G	6: 120,481,442	D518G	probably damaging	Het
Kcnk13	A	G	12: 100,061,251	Y195C	probably damaging	Het
Kmt2a	T	A	9: 44,848,485	H722L	probably damaging	Het
Mep1b	T	A	18: 21,086,249	H153Q	probably damaging	Het
Mfsd13b	A	T	7: 121,000,123	I381F	probably benign	Het
Mvk	A	G	5: 114,458,973	T334A	probably benign	Het
Naa30	T	C	14: 49,187,551	V320A	probably damaging	Het
Naip5	C	T	13: 100,245,746	G152S	possibly damaging	Het
Neb	A	C	2: 52,295,372	S949R	probably damaging	Het
Nfya	A	T	17: 48,392,018	I214N	possibly damaging	Het
Nsf	G	T	11: 103,882,811	N292K	probably damaging	Het
Nup133	T	C	8: 123,927,206	T505A	probably benign	Het
Olfr1178	A	G	2: 88,391,261	T5A	probably benign	Het
Olfr1231	A	C	2: 89,303,576	S5R	probably benign	Het
Olfr1413	A	T	1: 92,573,824	T218S	probably benign	Het
Olfr192	T	A	16: 59,098,704	H96L	unknown	Het
P4ha3	A	T	7: 100,293,815	R136W	probably damaging	Het
Parp12	A	G	6: 39,090,208	V550A	probably damaging	Het
Phf11a	T	C	14: 59,294,938	D16G	probably benign	Het
Rab3gap2	A	G	1: 185,277,145		probably null	Het
Sco1	A	G	11: 67,063,958	D263G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Homo
Sfpq	T	A	4: 127,021,723	S103T	unknown	Het
Shisa7	G	A	7: 4,829,976	R263C	probably damaging	Het
Ssc4d	T	A	5: 135,963,400	D144V	probably benign	Het
Stxbp5l	G	A	16: 37,129,851	P1044L	probably damaging	Het
Tgm6	G	A	2: 130,145,196	R528Q	probably benign	Het
Tlr3	A	T	8: 45,396,955	H892Q	probably benign	Het
Tmc2	A	G	2: 130,240,115	H406R	probably damaging	Het
Tmtc1	A	T	6: 148,443,899		probably null	Het
Ttc19	A	G	11: 62,284,151	I139M	probably benign	Het
Utrn	G	A	10: 12,649,185	R2185C	probably benign	Het
Wdfy4	T	C	14: 32,960,002	N3004S	probably damaging	Het
Wdr3	C	A	3: 100,142,984	G746W	probably damaging	Het
Zfp335	T	A	2: 164,902,245	Q500L	probably damaging	Het
Zfp804b	A	T	5: 6,770,071	D961E	probably benign	Het
Zkscan16	CTTCAGCTTTCA	CTTCA	4: 58,956,745		probably null	Het

Other mutations in Luzp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Luzp1	APN	4	136542776	missense	probably damaging	1.00
IGL01766:Luzp1	APN	4	136542773	missense	possibly damaging	0.92
IGL01868:Luzp1	APN	4	136542737	missense	probably damaging	1.00
IGL03230:Luzp1	APN	4	136542878	missense	probably benign	0.02
FR4548:Luzp1	UTSW	4	136543188	small insertion	probably benign
FR4737:Luzp1	UTSW	4	136543196	small insertion	probably benign
R0106:Luzp1	UTSW	4	136542685	missense	probably damaging	0.97
R0674:Luzp1	UTSW	4	136543457	missense	possibly damaging	0.85
R0676:Luzp1	UTSW	4	136542685	missense	probably damaging	0.97
R1103:Luzp1	UTSW	4	136540730	missense	possibly damaging	0.87
R1541:Luzp1	UTSW	4	136543325	missense	probably damaging	1.00
R1812:Luzp1	UTSW	4	136542331	missense	probably benign	0.03
R3924:Luzp1	UTSW	4	136542857	missense	probably damaging	1.00
R4022:Luzp1	UTSW	4	136542193	missense	probably benign	0.02
R4449:Luzp1	UTSW	4	136540863	missense	probably damaging	1.00
R4976:Luzp1	UTSW	4	136543397	missense	possibly damaging	0.69
R5119:Luzp1	UTSW	4	136543397	missense	possibly damaging	0.69
R5659:Luzp1	UTSW	4	136542476	missense	probably damaging	1.00
R5765:Luzp1	UTSW	4	136541029	missense	probably damaging	0.98
R5828:Luzp1	UTSW	4	136540682	missense	probably damaging	1.00
R6059:Luzp1	UTSW	4	136541480	missense	probably benign	0.35
R6147:Luzp1	UTSW	4	136541063	missense	probably damaging	1.00
R6181:Luzp1	UTSW	4	136543267	missense	probably benign	0.01
R6200:Luzp1	UTSW	4	136541266	missense	probably benign	0.12
R6368:Luzp1	UTSW	4	136541780	missense	probably benign	0.24
R6581:Luzp1	UTSW	4	136540631	missense	probably damaging	1.00
R6695:Luzp1	UTSW	4	136545298	missense	possibly damaging	0.83
R6932:Luzp1	UTSW	4	136540813	nonsense	probably null
R6998:Luzp1	UTSW	4	136543444	missense	probably damaging	1.00
R7529:Luzp1	UTSW	4	136540932	missense	probably damaging	1.00
R7878:Luzp1	UTSW	4	136541852	missense	probably benign	0.00
R8077:Luzp1	UTSW	4	136543091	missense	probably damaging	1.00
R8154:Luzp1	UTSW	4	136541884	missense	possibly damaging	0.47
R8292:Luzp1	UTSW	4	136542453	missense	probably benign	0.01
R8511:Luzp1	UTSW	4	136541339	missense	probably damaging	1.00
R8922:Luzp1	UTSW	4	136542922	missense	probably damaging	1.00
R9094:Luzp1	UTSW	4	136545251	missense	probably damaging	1.00
R9402:Luzp1	UTSW	4	136543182	missense	probably damaging	1.00
R9704:Luzp1	UTSW	4	136541293	missense	probably benign	0.01
R9756:Luzp1	UTSW	4	136542737	missense	probably damaging	1.00
RF028:Luzp1	UTSW	4	136543196	small insertion	probably benign
RF033:Luzp1	UTSW	4	136543196	small insertion	probably benign
RF040:Luzp1	UTSW	4	136543196	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCCATCAGAGTCTGTGGAG -3'
(R):5'- CACCATGCTTGATGAGTGGTTG -3'

Sequencing Primer
(F):5'- GAATAGTCATGTGCCCCCAG -3'
(R):5'- ATGAGTGGTTGCAGGAGGC -3'

Posted On

2016-09-01