Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Luzp1'

544334

Institutional Source

Beutler Lab

Gene Symbol

Luzp1

Ensembl Gene

ENSMUSG00000001089

Gene Name

leucine zipper protein 1

Synonyms

Luzp, 2700072H04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136469761-136554780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136543444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 993 (S993P)

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: S993P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: S993P

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: S993P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: S993P

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: S993P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: S993P

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: S993P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: S993P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,162,710	R620G	probably benign	Het
Adcy1	A	C	11: 7,079,026	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,770,915	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613	I164V	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Garem2	T	C	5: 30,114,170	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690	G124D	probably benign	Het
Maml2	C	T	9: 13,621,185		probably benign	Het
Mbtd1	A	T	11: 93,924,612	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433	Y127F	probably benign	Het
Pcsk5	T	C	19: 17,473,112	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pik3c2b	T	G	1: 133,102,372	I1457S	probably benign	Het
Pole2	T	C	12: 69,213,906	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,618,505	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321	T49S	probably damaging	Het
Slc16a10	T	C	10: 40,056,503	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,752,438	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002	I99N	possibly damaging	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
R5411:Luzp1	UTSW	4	136543342	missense	possibly damaging	0.59
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
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'- GACTTGAAATGTTCAGAAGACCCC -3'
(R):5'- AGAGGTTCTGGAAGTCGTGC -3'

Sequencing Primer
(F):5'- CCCCGACTGGAATAGGTAGG -3'
(R):5'- GGAAGTCGTGCTGCTTTCTCC -3'

Posted On

2019-05-13