Mutagenetix > Incidental Mutations

Incidental Mutation 'R5719:Lrwd1'

451342

Institutional Source

Beutler Lab

Gene Symbol

Lrwd1

Ensembl Gene

ENSMUSG00000029703

Gene Name

leucine-rich repeats and WD repeat domain containing 1

Synonyms

1200011O22Rik, Orca

MMRRC Submission

043339-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R5719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136122772-136136074 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 136132239 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041100] [ENSMUST00000125923] [ENSMUST00000136634] [ENSMUST00000143229] [ENSMUST00000150406]

Predicted Effect

probably null
Transcript: ENSMUST00000006301

SMART Domains

Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
LRR_TYP	46	69	3.16e-3	SMART
LRR	90	113	1.58e2	SMART
WD40	271	327	6.36e1	SMART
Blast:WD40	330	380	2e-12	BLAST
WD40	383	423	1.49e-7	SMART
WD40	434	473	2.28e2	SMART
Blast:WD40	484	527	6e-15	BLAST
WD40	542	583	1.42e2	SMART
low complexity region	591	602	N/A	INTRINSIC
Blast:WD40	603	646	8e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000041100

SMART Domains

Protein: ENSMUSP00000040403
Gene: ENSMUSG00000039754

Domain	Start	End	E-Value	Type
low complexity region	252	263	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125923

Predicted Effect

probably benign
Transcript: ENSMUST00000128255

SMART Domains

Protein: ENSMUSP00000119546
Gene: ENSMUSG00000029703

Domain	Start	End	E-Value	Type
Blast:WD40	13	66	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132976

Predicted Effect

probably benign
Transcript: ENSMUST00000136634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139908

Predicted Effect

probably benign
Transcript: ENSMUST00000143229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149673

Predicted Effect

probably benign
Transcript: ENSMUST00000150406

SMART Domains

Protein: ENSMUSP00000121513
Gene: ENSMUSG00000029703

Domain	Start	End	E-Value	Type
LRR_TYP	55	78	3.16e-3	SMART
LRR	99	122	1.58e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199786

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,273,245	H1137Q	probably damaging	Het
A130051J06Rik	C	T	15: 95,790,760		probably benign	Het
A630001G21Rik	T	A	1: 85,723,385	R110W	probably benign	Het
Abca4	T	C	3: 122,135,266		probably null	Het
Abcc3	T	C	11: 94,351,068	N1379S	probably damaging	Het
Actrt3	A	C	3: 30,598,127	F273V	probably benign	Het
Adam22	T	C	5: 8,367,217	D75G	probably benign	Het
Armc4	G	T	18: 7,211,496	Q793K	probably benign	Het
Ash1l	C	A	3: 89,054,498	D2392E	possibly damaging	Het
Ash1l	T	C	3: 89,058,626	I2445T	probably damaging	Het
Cacna2d2	A	G	9: 107,524,652	I762V	probably benign	Het
Ccdc127	T	A	13: 74,357,068		probably benign	Het
Ccdc91	C	G	6: 147,575,503	L230V	unknown	Het
Cdk13	A	G	13: 17,719,655	I1129T	probably damaging	Het
Cnot1	C	T	8: 95,744,296	R1308H	possibly damaging	Het
Crhr2	T	C	6: 55,103,222	H144R	probably damaging	Het
Dnmt1	T	C	9: 20,912,595	N993S	possibly damaging	Het
Eif4g1	T	A	16: 20,689,011	V1182D	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fam234a	T	A	17: 26,214,653	Q399L	possibly damaging	Het
Fyb	A	T	15: 6,580,869	K308*	probably null	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gm10309	A	T	17: 86,498,993		probably benign	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm5501	G	A	18: 9,917,417		noncoding transcript	Het
Gm6309	A	T	5: 146,168,182	V307D	probably benign	Het
Gm9871	T	A	6: 101,796,187		noncoding transcript	Het
Greb1l	G	A	18: 10,542,427	E1341K	probably damaging	Het
Herc3	T	A	6: 58,894,543	V70E	possibly damaging	Het
Hes7	A	G	11: 69,121,589	E41G	probably damaging	Het
Ifi27l2b	T	C	12: 103,455,787	D106G	unknown	Het
Igfbp6	A	T	15: 102,148,181	Y184F	probably damaging	Het
Isyna1	A	G	8: 70,594,702	Y25C	probably damaging	Het
Kcng3	G	T	17: 83,631,134	T162K	possibly damaging	Het
Krt36	T	C	11: 100,104,161	D195G	possibly damaging	Het
Lsg1	C	T	16: 30,561,775	A615T	probably benign	Het
Myo5a	A	T	9: 75,151,931	E480D	probably damaging	Het
Myrf	T	A	19: 10,216,723	D690V	probably damaging	Het
N4bp1	T	C	8: 86,851,684	I684M	probably damaging	Het
Nlrc3	C	T	16: 3,963,725	A607T	probably damaging	Het
Nuak1	A	T	10: 84,409,720	I87N	probably damaging	Het
Olfr1131	T	C	2: 87,629,131		probably null	Het
Olfr490	T	G	7: 108,286,392	T245P	probably damaging	Het
Olfr878	A	T	9: 37,919,351	E236D	probably damaging	Het
Osbpl9	T	A	4: 109,062,566	R689*	probably null	Het
Ppargc1b	T	A	18: 61,307,568	M744L	probably benign	Het
Prss40	A	T	1: 34,552,517		probably benign	Het
Ptprd	T	A	4: 76,054,602		probably null	Het
Rft1	T	C	14: 30,663,226		probably benign	Het
Rftn2	C	T	1: 55,214,286	V53I	probably damaging	Het
Rnaset2a	T	C	17: 8,132,047	Y167C	probably damaging	Het
Schip1	T	C	3: 68,408,227		probably benign	Het
Scn5a	A	C	9: 119,530,052	L643R	possibly damaging	Het
Shroom3	T	A	5: 92,943,018	M1128K	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc14a2	A	G	18: 78,209,042	L18P	probably benign	Het
Slc22a3	C	T	17: 12,423,804	V509M	probably damaging	Het
Slc7a5	A	C	8: 121,883,642	F478V	probably benign	Het
Smc1b	T	A	15: 85,096,658	N803I	probably benign	Het
Snf8	T	A	11: 96,041,725	N115K	probably damaging	Het
Stox2	T	A	8: 47,413,137	K57*	probably null	Het
Tmem248	T	A	5: 130,229,588	F41I	probably damaging	Het
Tmprss7	T	C	16: 45,686,430	S90G	probably damaging	Het
Top3b	T	C	16: 16,885,836	V285A	probably damaging	Het
Tsen15	T	C	1: 152,371,783	T153A	probably damaging	Het
Usp34	T	G	11: 23,354,846	S360A	probably benign	Het
Wdr24	T	C	17: 25,828,340		probably null	Het
Zbtb2	G	A	10: 4,369,456	T190I	probably benign	Het
Zranb3	T	C	1: 127,963,876	S788G	probably benign	Het

Other mutations in Lrwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Lrwd1	APN	5	136134629	missense	probably damaging	1.00
IGL01827:Lrwd1	APN	5	136131518	nonsense	probably null
IGL01919:Lrwd1	APN	5	136135875	nonsense	probably null
IGL02327:Lrwd1	APN	5	136123464	missense	probably damaging	1.00
R0614:Lrwd1	UTSW	5	136123500	missense	probably damaging	0.99
R0882:Lrwd1	UTSW	5	136123400	splice site	probably null
R1137:Lrwd1	UTSW	5	136133419	missense	probably benign	0.01
R1164:Lrwd1	UTSW	5	136130990	missense	probably benign	0.00
R1302:Lrwd1	UTSW	5	136132413	missense	probably benign	0.05
R1838:Lrwd1	UTSW	5	136132388	missense	probably benign	0.00
R2114:Lrwd1	UTSW	5	136130478	missense	probably damaging	1.00
R2116:Lrwd1	UTSW	5	136130478	missense	probably damaging	1.00
R2117:Lrwd1	UTSW	5	136130478	missense	probably damaging	1.00
R4514:Lrwd1	UTSW	5	136131548	missense	probably benign	0.00
R4595:Lrwd1	UTSW	5	136123956	missense	probably benign
R5304:Lrwd1	UTSW	5	136131150	missense	possibly damaging	0.49
R5384:Lrwd1	UTSW	5	136123874	missense	possibly damaging	0.84
R5771:Lrwd1	UTSW	5	136123662	missense	possibly damaging	0.95
R5791:Lrwd1	UTSW	5	136131033	missense	probably benign	0.44
R6431:Lrwd1	UTSW	5	136133034	missense	possibly damaging	0.90
R7074:Lrwd1	UTSW	5	136123657	missense	probably benign	0.01
R7132:Lrwd1	UTSW	5	136123275	missense	possibly damaging	0.71
R7838:Lrwd1	UTSW	5	136132129	missense	probably damaging	1.00
R7873:Lrwd1	UTSW	5	136123938	missense	probably benign	0.00
R8033:Lrwd1	UTSW	5	136123225	missense	probably damaging	1.00
R8738:Lrwd1	UTSW	5	136133403	nonsense	probably null
Z1176:Lrwd1	UTSW	5	136134008	missense	probably damaging	1.00
Z1177:Lrwd1	UTSW	5	136131541	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATCTCCTGCTGAGCACCAAC -3'
(R):5'- AAAGTCTCCTTCCTTTCACAGG -3'

Sequencing Primer
(F):5'- TGCTGAGCACCAACCTATG -3'
(R):5'- TTCCTTTCACAGGCCAGAGAG -3'

Posted On

2017-01-03