Mutagenetix > Incidental Mutation

Incidental Mutation 'R8511:Luzp1'

655857

Institutional Source

Beutler Lab

Gene Symbol

Luzp1

Ensembl Gene

ENSMUSG00000001089

Gene Name

leucine zipper protein 1

Synonyms

2700072H04Rik, Luzp

MMRRC Submission

067888-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136197072-136282091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136268650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 291 (D291G)

Ref Sequence

ENSEMBL: ENSMUSP00000001116 (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: D291G

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

SMART Domains

Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: D291G

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: D291G

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

SMART Domains

Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: D291G

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: D291G

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

SMART Domains

Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: D291G

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: D291G

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

SMART Domains

Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: D291G

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: 99.8%
20x: 99.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	C	11: 11,540,056 (GRCm39)	H186R	unknown	Het
6430548M08Rik	A	G	8: 120,879,301 (GRCm39)	N233S	probably benign	Het
Acan	A	G	7: 78,747,683 (GRCm39)	D818G	possibly damaging	Het
Adam22	G	A	5: 8,184,558 (GRCm39)	T478I	probably damaging	Het
Afg2a	A	G	3: 37,490,897 (GRCm39)	M481V	probably damaging	Het
Agmo	T	A	12: 37,294,396 (GRCm39)	*115R	probably null	Het
Ahnak	A	G	19: 8,989,719 (GRCm39)	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,480,745 (GRCm39)	T430I	possibly damaging	Het
Ankrd11	T	C	8: 123,626,468 (GRCm39)	D17G		Het
Apol10b	T	C	15: 77,469,211 (GRCm39)	E322G	probably benign	Het
Apol10b	C	G	15: 77,469,210 (GRCm39)	E322D	probably benign	Het
Apol8	C	T	15: 77,634,273 (GRCm39)	G101E	probably benign	Het
Arhgef26	A	T	3: 62,336,350 (GRCm39)	M630L	probably damaging	Het
Aspm	T	C	1: 139,385,046 (GRCm39)	L230P	probably damaging	Het
Atg101	T	C	15: 101,188,503 (GRCm39)	S203P	probably damaging	Het
Baz2b	T	A	2: 59,732,158 (GRCm39)	T1996S	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cad	A	G	5: 31,233,165 (GRCm39)	K1869R	probably benign	Het
Caskin1	A	T	17: 24,724,910 (GRCm39)	I1233F	probably benign	Het
Ckap5	T	A	2: 91,445,492 (GRCm39)	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,791,969 (GRCm39)	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,262,692 (GRCm39)	N626S		Het
Cuedc2	C	A	19: 46,319,358 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,703,742 (GRCm39)	N1275Y	unknown	Het
Dnm3	A	G	1: 162,113,611 (GRCm39)	V483A	possibly damaging	Het
Dock9	A	T	14: 121,864,801 (GRCm39)	H718Q	probably benign	Het
Dock9	T	C	14: 121,918,847 (GRCm39)	D50G	probably damaging	Het
Egfr	T	G	11: 16,846,949 (GRCm39)	I782S	probably damaging	Het
Elmod1	A	T	9: 53,820,095 (GRCm39)	F298I	probably damaging	Het
Enthd1	T	C	15: 80,358,428 (GRCm39)	Q364R	probably damaging	Het
Fat2	T	A	11: 55,200,063 (GRCm39)	S1004C	probably damaging	Het
Fga	A	T	3: 82,939,064 (GRCm39)	K480*	probably null	Het
Fhod3	A	G	18: 25,265,994 (GRCm39)	T1561A	probably damaging	Het
Foxg1	T	A	12: 49,431,868 (GRCm39)	Y200*	probably null	Het
Foxj2	C	T	6: 122,808,404 (GRCm39)	R115*	probably null	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gpsm2	A	G	3: 108,589,399 (GRCm39)	S580P	probably benign	Het
Hectd1	A	G	12: 51,834,654 (GRCm39)	S870P	probably benign	Het
Hic2	T	A	16: 17,075,874 (GRCm39)	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726 (GRCm39)	F15L	probably benign	Het
Immp1l	G	A	2: 105,761,100 (GRCm39)	R3H	probably benign	Het
Iqca1l	T	A	5: 24,750,906 (GRCm39)	H559L	possibly damaging	Het
Jak3	T	A	8: 72,138,194 (GRCm39)	Y882N	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Map3k19	C	T	1: 127,775,155 (GRCm39)	E61K	possibly damaging	Het
Mical3	A	G	6: 121,015,513 (GRCm39)	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,284,363 (GRCm39)	P107L	probably damaging	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Pira1	A	G	7: 3,742,347 (GRCm39)	L60P	probably damaging	Het
Polr1a	C	A	6: 71,897,504 (GRCm39)	H207N	probably benign	Het
Prokr2	A	G	2: 132,223,422 (GRCm39)	V40A	probably benign	Het
Prtg	T	C	9: 72,798,156 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,754,440 (GRCm39)	T200I	probably damaging	Het
Ramp3	C	T	11: 6,626,709 (GRCm39)	R139C	probably benign	Het
Scfd2	A	G	5: 74,372,949 (GRCm39)	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,618,981 (GRCm39)	K787R	probably damaging	Het
Slco3a1	A	G	7: 73,952,990 (GRCm39)	V523A	probably benign	Het
Smo	A	G	6: 29,755,531 (GRCm39)	Y401C	probably damaging	Het
Stmn2	A	G	3: 8,574,615 (GRCm39)		probably benign	Het
Stra6l	G	T	4: 45,885,347 (GRCm39)	G605V	probably benign	Het
Syne2	A	G	12: 76,055,647 (GRCm39)	I4170V	probably benign	Het
Tgm7	T	A	2: 120,924,141 (GRCm39)	I594F	probably damaging	Het
Tle2	T	C	10: 81,423,830 (GRCm39)	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,369,662 (GRCm39)	L371I	possibly damaging	Het
Ttn	T	C	2: 76,579,866 (GRCm39)	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,774,563 (GRCm39)	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,614,443 (GRCm39)	D721V	probably damaging	Het
Zan	A	T	5: 137,445,108 (GRCm39)	V1717E	unknown	Het
Zmiz2	C	T	11: 6,353,190 (GRCm39)	H658Y	probably damaging	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
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
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'- ATGAGAAATGCTTCCACTTTTCTGG -3'
(R):5'- GCCTCTGCCCAAAAGGAAAG -3'

Sequencing Primer
(F):5'- TTCCACTTTTCTGGAAAGGAATGACC -3'
(R):5'- GGAAAGCATCTTCACCTTCTATG -3'

Posted On

2020-10-20