Mutagenetix > Incidental Mutation

Incidental Mutation 'R6147:Luzp1'

488935

Institutional Source

Beutler Lab

Gene Symbol

Luzp1

Ensembl Gene

ENSMUSG00000001089

Gene Name

leucine zipper protein 1

Synonyms

2700072H04Rik, Luzp

MMRRC Submission

044294-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R6147 (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 136268374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 199 (Y199C)

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: Y199C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: Y199C

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: Y199C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: Y199C

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: Y199C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: Y199C

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: Y199C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: Y199C

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: 99.8%
3x: 99.3%
10x: 97.1%
20x: 92.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,657,157 (GRCm39)		probably benign	Het
Acsf3	T	A	8: 123,508,213 (GRCm39)	D236E	probably damaging	Het
Aqp1	G	T	6: 55,313,595 (GRCm39)	E40D	probably benign	Het
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Arfip1	A	G	3: 84,436,485 (GRCm39)	V97A	probably benign	Het
Atp6v1b2	T	A	8: 69,555,134 (GRCm39)	Y165*	probably null	Het
Bclaf1	T	A	10: 20,199,171 (GRCm39)	D189E	possibly damaging	Het
Camsap2	G	A	1: 136,273,138 (GRCm39)	T13M	probably damaging	Het
Cblif	G	A	19: 11,724,936 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,012,894 (GRCm39)	Y297F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,506 (GRCm39)	C174Y	probably damaging	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Comtd1	C	A	14: 21,898,883 (GRCm39)	A20S	probably damaging	Het
Cspg4	A	T	9: 56,796,056 (GRCm39)	R1264W	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dlgap2	T	A	8: 14,777,294 (GRCm39)	C180S	probably benign	Het
Ednra	C	T	8: 78,393,951 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,858,566 (GRCm39)	V3875A	unknown	Het
Ephb6	A	T	6: 41,593,715 (GRCm39)	S533C	probably damaging	Het
Fndc1	A	T	17: 7,972,594 (GRCm39)		probably null	Het
Gm12185	A	G	11: 48,806,717 (GRCm39)	I158T	probably benign	Het
Gm14325	A	T	2: 177,474,600 (GRCm39)	C161S	probably damaging	Het
Ighv9-1	T	A	12: 114,057,840 (GRCm39)	Q20L	probably damaging	Het
Khnyn	G	C	14: 56,125,060 (GRCm39)	S438T	probably damaging	Het
Krt9	T	C	11: 100,079,665 (GRCm39)	S576G	unknown	Het
Lrriq4	A	T	3: 30,713,228 (GRCm39)	N443I	probably damaging	Het
Map2k3	T	A	11: 60,840,776 (GRCm39)	Y268*	probably null	Het
Men1	T	A	19: 6,387,272 (GRCm39)	D248E	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,573 (GRCm39)	C261S	probably benign	Het
Mpeg1	T	G	19: 12,440,258 (GRCm39)	I572S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,113 (GRCm39)	V204A	possibly damaging	Het
Mycbp2	A	T	14: 103,392,945 (GRCm39)	C805*	probably null	Het
Nphs2	A	T	1: 156,146,296 (GRCm39)	K91*	probably null	Het
Obox3	A	G	7: 15,359,926 (GRCm39)	S248P	probably damaging	Het
Or12d17	T	C	17: 37,777,430 (GRCm39)	I111T	probably benign	Het
Or5w19	C	T	2: 87,699,061 (GRCm39)	T242I	probably benign	Het
Or8k22	A	T	2: 86,162,844 (GRCm39)	N285K	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pan3	T	C	5: 147,485,093 (GRCm39)		probably benign	Het
Pate10	A	G	9: 35,653,528 (GRCm39)	T111A	possibly damaging	Het
Pate10	A	T	9: 35,653,406 (GRCm39)	Y70F	possibly damaging	Het
Pcdhb5	T	A	18: 37,453,779 (GRCm39)	L53Q	probably damaging	Het
Pcdhb9	G	T	18: 37,535,494 (GRCm39)	R496L	possibly damaging	Het
Peg10	C	T	6: 4,754,499 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,690,481 (GRCm39)	K722E	probably damaging	Het
Plch1	A	G	3: 63,630,302 (GRCm39)	S489P	probably damaging	Het
Plekhg3	T	C	12: 76,611,985 (GRCm39)	V362A	probably damaging	Het
Prorp	A	G	12: 55,426,093 (GRCm39)	Y168C	probably damaging	Het
Radil	G	A	5: 142,483,695 (GRCm39)	H264Y	probably benign	Het
Ranbp2	C	A	10: 58,315,250 (GRCm39)	T1990K	probably damaging	Het
Rnf207	T	C	4: 152,400,112 (GRCm39)	D192G	probably damaging	Het
Ryr1	A	T	7: 28,785,339 (GRCm39)	F1784Y	possibly damaging	Het
Set	T	A	2: 29,956,836 (GRCm39)	S2T	probably benign	Het
Slc26a2	T	A	18: 61,334,757 (GRCm39)	Y232F	probably damaging	Het
Sntb1	T	A	15: 55,511,406 (GRCm39)	M393L	probably benign	Het
Stx16	A	G	2: 173,932,480 (GRCm39)	T18A	probably damaging	Het
Stxbp5	A	T	10: 9,684,216 (GRCm39)	S585T	possibly damaging	Het
Sult2a7	T	C	7: 14,199,088 (GRCm39)	E313G	probably damaging	Het
Tbck	A	G	3: 132,400,207 (GRCm39)	K86R	probably benign	Het
Tom1	A	T	8: 75,781,320 (GRCm39)	Q255L	possibly damaging	Het
Trbv4	A	G	6: 41,036,637 (GRCm39)	Y54C	probably damaging	Het
Trim34a	A	T	7: 103,910,398 (GRCm39)	Q400L	probably damaging	Het
Trim42	G	T	9: 97,245,382 (GRCm39)	H473N	probably benign	Het
Tsbp1	T	C	17: 34,637,897 (GRCm39)	S31P	possibly damaging	Het
Tshr	T	A	12: 91,505,009 (GRCm39)	M649K	possibly damaging	Het
Vmn2r11	C	T	5: 109,202,700 (GRCm39)	V126M	probably benign	Het
Vps13b	T	A	15: 35,930,177 (GRCm39)	H3971Q	probably benign	Het
Wdr75	T	A	1: 45,858,698 (GRCm39)	N622K	probably benign	Het
Wdr93	A	T	7: 79,408,245 (GRCm39)	Q242L	probably benign	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
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'- GTTCCCAGCTTTGTTTGAGC -3'
(R):5'- CTGCTTTAGGTAGTCTAGACTGC -3'

Sequencing Primer
(F):5'- CAGCTTTGTTTGAGCCTCAATGAAG -3'
(R):5'- GTAGTCTAGACTGCCCTTCCTTTTTG -3'

Posted On

2017-10-10