Mutagenetix > Incidental Mutation

Incidental Mutation 'R1812:Luzp1'

202454

Institutional Source

Beutler Lab

Gene Symbol

Luzp1

Ensembl Gene

ENSMUSG00000001089

Gene Name

leucine zipper protein 1

Synonyms

2700072H04Rik, Luzp

MMRRC Submission

039840-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.869) question?

Stock #

R1812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136197072-136282091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136269642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 622 (L622M)

Ref Sequence

ENSEMBL: ENSMUSP00000130758 (fasta)

Gene Model

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

AlphaFold

Q8R4U7

Predicted Effect

probably benign
Transcript: ENSMUST00000001116
AA Change: L622M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: L622M

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: ENSMUST00000063021
AA Change: L622M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: L622M

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: ENSMUST00000105849
AA Change: L622M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: L622M

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 benign
Transcript: ENSMUST00000170102
AA Change: L622M

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: L622M

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: 97.3%
3x: 96.3%
10x: 93.2%
20x: 85.7%

Validation Efficiency

100% (1/1)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,164,740 (GRCm39)	Q545*	probably null	Het
Aadacl2	T	C	3: 59,932,498 (GRCm39)	C338R	probably damaging	Het
Abcb4	G	A	5: 8,978,578 (GRCm39)		probably null	Het
Adam17	T	C	12: 21,411,768 (GRCm39)	D41G	probably damaging	Het
Angptl7	T	A	4: 148,582,540 (GRCm39)	I119F	probably damaging	Het
Arid1b	T	A	17: 5,387,304 (GRCm39)	S1586T	probably benign	Het
Arid4b	C	T	13: 14,370,014 (GRCm39)	A1170V	probably damaging	Het
Atad5	A	G	11: 80,023,873 (GRCm39)	T1659A	probably damaging	Het
Bub1b	T	G	2: 118,462,902 (GRCm39)	D754E	probably benign	Het
Cdkn1a	T	C	17: 29,317,539 (GRCm39)	V53A	probably benign	Het
Chsy1	T	G	7: 65,821,565 (GRCm39)	V600G	probably benign	Het
Cntrl	G	A	2: 35,039,481 (GRCm39)	V561M	probably damaging	Het
Col6a5	A	G	9: 105,805,253 (GRCm39)	C1218R	unknown	Het
Crhr1	T	C	11: 104,059,973 (GRCm39)	L140P	probably damaging	Het
Cyb5b	CAGAG	CAG	8: 107,897,020 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,039,621 (GRCm39)	Q298L	probably damaging	Het
Dctn1	A	G	6: 83,169,500 (GRCm39)	E638G	possibly damaging	Het
Ddx41	A	G	13: 55,683,767 (GRCm39)	I88T	probably benign	Het
Dennd11	A	G	6: 40,386,365 (GRCm39)	I288T	probably benign	Het
Diaph1	G	T	18: 38,024,071 (GRCm39)	P589Q	unknown	Het
Dip2b	C	A	15: 100,096,819 (GRCm39)		probably null	Het
Dscaml1	G	A	9: 45,662,584 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,629,334 (GRCm39)	A4246V	possibly damaging	Het
Epb41l1	T	C	2: 156,338,431 (GRCm39)	I158T	probably damaging	Het
Fat1	A	G	8: 45,489,840 (GRCm39)	Y3584C	probably damaging	Het
Fxyd5	T	A	7: 30,737,355 (GRCm39)		probably null	Het
Gapvd1	T	A	2: 34,615,076 (GRCm39)	K336*	probably null	Het
Gm9637	G	A	14: 19,402,395 (GRCm38)		noncoding transcript	Het
Gpr65	C	T	12: 98,242,001 (GRCm39)	T218M	probably damaging	Het
Gsdma3	T	C	11: 98,523,219 (GRCm39)	V203A	probably damaging	Het
Helb	T	A	10: 119,925,471 (GRCm39)	K969*	probably null	Het
Hipk2	G	A	6: 38,675,098 (GRCm39)	A1188V	probably benign	Het
Itpk1	T	A	12: 102,540,317 (GRCm39)	E255D	probably benign	Het
Kif21a	T	C	15: 90,855,969 (GRCm39)	D596G	possibly damaging	Het
Kif5a	A	T	10: 127,077,879 (GRCm39)	I405N	probably benign	Het
Klk1b11	T	A	7: 43,427,179 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,325,817 (GRCm39)	I5227F	probably damaging	Het
Mapk10	A	C	5: 103,061,128 (GRCm39)	S470A	probably damaging	Het
Morc2a	C	T	11: 3,635,831 (GRCm39)	T897I	probably damaging	Het
Nmbr	A	G	10: 14,636,283 (GRCm39)		probably null	Het
Nosip	T	A	7: 44,725,998 (GRCm39)	M214K	probably damaging	Het
Or13c7d	G	T	4: 43,770,230 (GRCm39)	Y260*	probably null	Het
Or52m2	A	T	7: 102,263,577 (GRCm39)	N206K	possibly damaging	Het
Or52r1	T	C	7: 102,537,285 (GRCm39)	Y25C	probably benign	Het
Or5w13	A	G	2: 87,523,447 (GRCm39)	F260L	probably benign	Het
Pik3c2a	A	T	7: 116,016,899 (GRCm39)	V286E	probably damaging	Het
Ppfia4	T	A	1: 134,252,311 (GRCm39)	I388F	probably benign	Het
Ppm1f	A	G	16: 16,735,651 (GRCm39)	H289R	probably damaging	Het
Ptprz1	T	A	6: 22,959,711 (GRCm39)	D69E	probably benign	Het
Rad54b	A	T	4: 11,612,770 (GRCm39)	T801S	probably damaging	Het
Ramp1	A	T	1: 91,124,579 (GRCm39)	N47Y	probably damaging	Het
Rnf32	T	A	5: 29,411,258 (GRCm39)	H181Q	possibly damaging	Het
Rpa2	T	C	4: 132,495,996 (GRCm39)	F6L	probably benign	Het
Ryr2	C	A	13: 11,575,472 (GRCm39)	R4842L	probably damaging	Het
Scn11a	G	T	9: 119,609,931 (GRCm39)	C972*	probably null	Het
Setd2	C	T	9: 110,379,170 (GRCm39)	T995I	probably damaging	Het
Slc39a7	A	G	17: 34,247,789 (GRCm39)	L471P	probably damaging	Het
Slc6a21	C	G	7: 44,932,371 (GRCm39)	S350R	probably damaging	Het
Slx4ip	A	G	2: 136,910,115 (GRCm39)	N300S	probably benign	Het
Spef2	G	A	15: 9,679,435 (GRCm39)	P634L	probably damaging	Het
Stk32b	G	A	5: 37,624,102 (GRCm39)	A215V	probably damaging	Het
Svil	A	T	18: 5,097,545 (GRCm39)	Y1676F	probably damaging	Het
Tanc1	G	A	2: 59,622,023 (GRCm39)	V381M	probably damaging	Het
Tanc2	T	C	11: 105,777,212 (GRCm39)	F797L	probably benign	Het
Tas2r120	T	G	6: 132,634,564 (GRCm39)	C215W	probably benign	Het
Tenm4	G	A	7: 96,545,147 (GRCm39)	D2388N	probably damaging	Het
Thsd4	C	T	9: 59,964,220 (GRCm39)	S64N	probably damaging	Het
Thsd7b	C	T	1: 129,686,347 (GRCm39)	R630C	probably damaging	Het
Top3a	A	G	11: 60,650,188 (GRCm39)	I145T	probably damaging	Het
Vmn2r78	A	G	7: 86,569,995 (GRCm39)	D171G	probably benign	Het
Vmn2r82	A	G	10: 79,215,046 (GRCm39)	E343G	probably benign	Het
Wdr70	T	C	15: 8,108,663 (GRCm39)	D161G	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
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
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'- TAGCTGCTCTAAGGCCATCG -3'
(R):5'- TAGGGCAGTTCTAGTTCCCC -3'

Sequencing Primer
(F):5'- TAAGGCCATCGGAGCTCTCTC -3'
(R):5'- CTCTGGAGTGATAGTTGTGTTCACC -3'

Posted On

2014-06-23