Mutagenetix > Incidental Mutation

Incidental Mutation 'R5771:Lrwd1'

445352

Institutional Source

Beutler Lab

Gene Symbol

Lrwd1

Ensembl Gene

ENSMUSG00000029703

Gene Name

leucine-rich repeats and WD repeat domain containing 1

Synonyms

Orca, 1200011O22Rik

MMRRC Submission

043371-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R5771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136151920-136164928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136152516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 545 (I545N)

Ref Sequence

ENSEMBL: ENSMUSP00000006301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041366] [ENSMUST00000111127] [ENSMUST00000111129]

AlphaFold

Q8BUI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006301
AA Change: I545N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: I545N

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: ENSMUST00000041366

SMART Domains

Protein: ENSMUSP00000038505
Gene: ENSMUSG00000039771

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L_2	30	104	5.3e-32	PFAM
Pfam:RNA_pol_L	32	98	4.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111127

SMART Domains

Protein: ENSMUSP00000106757
Gene: ENSMUSG00000039771

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L_2	29	105	3.6e-33	PFAM
Pfam:RNA_pol_L	31	99	1.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111129

SMART Domains

Protein: ENSMUSP00000106759
Gene: ENSMUSG00000039771

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L	17	69	2.7e-9	PFAM
Pfam:RNA_pol_L_2	17	75	1.8e-23	PFAM

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

noncoding transcript
Transcript: ENSMUST00000142272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199799

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

95% (87/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,411 (GRCm39)	N1091K	probably damaging	Het
Adam3	C	T	8: 25,197,427 (GRCm39)	V335I	probably benign	Het
AI504432	G	A	3: 106,956,299 (GRCm39)		noncoding transcript	Het
Apcdd1	A	G	18: 63,070,027 (GRCm39)	Y98C	probably damaging	Het
Aqp9	C	T	9: 71,030,146 (GRCm39)	A214T	probably damaging	Het
Atp8b4	T	C	2: 126,220,664 (GRCm39)	D578G	probably benign	Het
Bcdin3d	T	C	15: 99,368,717 (GRCm39)	M161V	probably benign	Het
Bicral	C	T	17: 47,136,284 (GRCm39)	V309I	possibly damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdhr2	T	A	13: 54,874,508 (GRCm39)	V860E	probably damaging	Het
Clhc1	A	T	11: 29,513,854 (GRCm39)	N302Y	possibly damaging	Het
Cnnm2	T	A	19: 46,845,434 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,937,636 (GRCm39)	N709S	probably benign	Het
Ctnnal1	T	C	4: 56,826,328 (GRCm39)	S512G	probably benign	Het
Dgcr8	C	T	16: 18,090,632 (GRCm39)	V581I	probably benign	Het
Dnaaf10	A	G	11: 17,174,638 (GRCm39)	T169A	probably benign	Het
Dnah7c	G	A	1: 46,678,825 (GRCm39)	V1790I	probably benign	Het
Efl1	A	G	7: 82,341,732 (GRCm39)	K452E	probably benign	Het
Epb42	A	C	2: 120,852,301 (GRCm39)	V564G	probably damaging	Het
Etv4	G	A	11: 101,662,282 (GRCm39)	P335S	probably damaging	Het
Fbxw9	T	A	8: 85,791,201 (GRCm39)		probably null	Het
Fcrl2	A	T	3: 87,170,775 (GRCm39)	L3Q	probably damaging	Het
Frmd8	C	A	19: 5,919,478 (GRCm39)	A190S	probably benign	Het
Gcm2	C	T	13: 41,256,991 (GRCm39)	D253N	probably benign	Het
Gfm1	T	C	3: 67,342,895 (GRCm39)	V143A	probably benign	Het
Gigyf2	T	C	1: 87,374,050 (GRCm39)	M1226T	possibly damaging	Het
Gm10110	C	T	14: 90,134,675 (GRCm39)		noncoding transcript	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm20939	T	G	17: 95,181,767 (GRCm39)	C55W	possibly damaging	Het
Gm5407	T	A	16: 49,117,229 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,387,351 (GRCm39)	E1491G	probably damaging	Het
Hdac11	T	A	6: 91,146,364 (GRCm39)		probably null	Het
Hs3st3b1	C	T	11: 63,780,098 (GRCm39)	S343N	probably benign	Het
Igkv12-44	G	A	6: 69,792,075 (GRCm39)	P4S	probably benign	Het
Igkv1-35	C	T	6: 69,988,231 (GRCm39)	V22I	probably benign	Het
Kcns2	A	T	15: 34,839,068 (GRCm39)	T144S	probably benign	Het
Khdc1c	T	C	1: 21,439,266 (GRCm39)	V84A	possibly damaging	Het
Kif4-ps	T	A	12: 101,115,544 (GRCm39)		noncoding transcript	Het
Lamc2	T	G	1: 153,017,340 (GRCm39)	Y549S	probably benign	Het
Lect2	T	A	13: 56,696,154 (GRCm39)	I8F	probably benign	Het
Loxl3	T	A	6: 83,012,780 (GRCm39)		probably null	Het
Ltbp3	T	C	19: 5,797,572 (GRCm39)	C437R	probably damaging	Het
Lypd3	T	C	7: 24,339,787 (GRCm39)	S285P	probably benign	Het
Mast2	T	A	4: 116,190,622 (GRCm39)	H83L	possibly damaging	Het
Mfsd4b4	A	G	10: 39,768,635 (GRCm39)	F153L	probably benign	Het
Ms4a4b	T	A	19: 11,438,606 (GRCm39)		probably null	Het
Nbr1	T	A	11: 101,450,364 (GRCm39)	L41Q	probably damaging	Het
Nlrp4a	G	A	7: 26,152,814 (GRCm39)	C628Y	probably damaging	Het
Nup160	C	T	2: 90,553,740 (GRCm39)	R1157C	probably damaging	Het
Obscn	T	A	11: 58,891,533 (GRCm39)	I7000F	unknown	Het
Or4k41	T	A	2: 111,280,406 (GRCm39)		probably null	Het
Or4p21	A	T	2: 88,276,652 (GRCm39)	V210D	possibly damaging	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Or5b122	T	G	19: 13,562,872 (GRCm39)	V25G	probably damaging	Het
Or8g2	A	T	9: 39,821,546 (GRCm39)	Y149F	probably damaging	Het
Pdilt	T	C	7: 119,094,217 (GRCm39)	K345E	probably damaging	Het
Ppp1r12b	A	T	1: 134,701,162 (GRCm39)		probably null	Het
Ppp2r1b	A	T	9: 50,778,132 (GRCm39)	Q219L	probably damaging	Het
Prim2	A	G	1: 33,493,232 (GRCm39)	S485P	unknown	Het
Prkdc	A	G	16: 15,482,097 (GRCm39)	D380G	probably damaging	Het
Psmg1	A	G	16: 95,783,369 (GRCm39)	L243S	probably damaging	Het
Rapgef5	T	A	12: 117,685,061 (GRCm39)	V270D	probably benign	Het
Rnft1	C	T	11: 86,384,032 (GRCm39)	R311*	probably null	Het
Scaper	T	A	9: 55,724,075 (GRCm39)	I628L	probably damaging	Het
Serpina3j	C	A	12: 104,281,185 (GRCm39)	H119Q	possibly damaging	Het
Slamf6	G	A	1: 171,745,341 (GRCm39)	V23I	probably damaging	Het
Slc12a5	T	A	2: 164,815,688 (GRCm39)	M45K	possibly damaging	Het
Slc25a11	A	C	11: 70,537,016 (GRCm39)	V13G	probably damaging	Het
Slc7a14	T	A	3: 31,292,856 (GRCm39)	Y143F	probably damaging	Het
Spryd3	A	G	15: 102,025,342 (GRCm39)		probably benign	Het
Stard13	C	A	5: 151,113,476 (GRCm39)	L28F	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Taf2	A	G	15: 54,923,335 (GRCm39)	V314A	probably benign	Het
Tas2r106	T	C	6: 131,655,086 (GRCm39)	N255S	possibly damaging	Het
Tbxa2r	T	A	10: 81,168,775 (GRCm39)	W155R	probably damaging	Het
Tcf3	A	G	10: 80,257,450 (GRCm39)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,404,959 (GRCm39)	D148G	probably damaging	Het
Vmn2r77	A	G	7: 86,461,235 (GRCm39)	N854D	probably benign	Het
Vstm4	A	T	14: 32,626,526 (GRCm39)	H64L	probably benign	Het
Wnk2	T	C	13: 49,256,276 (GRCm39)	T282A	probably damaging	Het
Zscan4c	A	T	7: 10,743,574 (GRCm39)	D391V	probably benign	Het

Other mutations in Lrwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Lrwd1	APN	5	136,163,483 (GRCm39)	missense	probably damaging	1.00
IGL01827:Lrwd1	APN	5	136,160,372 (GRCm39)	nonsense	probably null
IGL01919:Lrwd1	APN	5	136,164,729 (GRCm39)	nonsense	probably null
IGL02327:Lrwd1	APN	5	136,152,318 (GRCm39)	missense	probably damaging	1.00
R0614:Lrwd1	UTSW	5	136,152,354 (GRCm39)	missense	probably damaging	0.99
R0882:Lrwd1	UTSW	5	136,152,254 (GRCm39)	splice site	probably null
R1137:Lrwd1	UTSW	5	136,162,273 (GRCm39)	missense	probably benign	0.01
R1164:Lrwd1	UTSW	5	136,159,844 (GRCm39)	missense	probably benign	0.00
R1302:Lrwd1	UTSW	5	136,161,267 (GRCm39)	missense	probably benign	0.05
R1838:Lrwd1	UTSW	5	136,161,242 (GRCm39)	missense	probably benign	0.00
R2114:Lrwd1	UTSW	5	136,159,332 (GRCm39)	missense	probably damaging	1.00
R2116:Lrwd1	UTSW	5	136,159,332 (GRCm39)	missense	probably damaging	1.00
R2117:Lrwd1	UTSW	5	136,159,332 (GRCm39)	missense	probably damaging	1.00
R4514:Lrwd1	UTSW	5	136,160,402 (GRCm39)	missense	probably benign	0.00
R4595:Lrwd1	UTSW	5	136,152,810 (GRCm39)	missense	probably benign
R5304:Lrwd1	UTSW	5	136,160,004 (GRCm39)	missense	possibly damaging	0.49
R5384:Lrwd1	UTSW	5	136,152,728 (GRCm39)	missense	possibly damaging	0.84
R5719:Lrwd1	UTSW	5	136,161,093 (GRCm39)	splice site	probably null
R5791:Lrwd1	UTSW	5	136,159,887 (GRCm39)	missense	probably benign	0.44
R6431:Lrwd1	UTSW	5	136,161,888 (GRCm39)	missense	possibly damaging	0.90
R7074:Lrwd1	UTSW	5	136,152,511 (GRCm39)	missense	probably benign	0.01
R7132:Lrwd1	UTSW	5	136,152,129 (GRCm39)	missense	possibly damaging	0.71
R7838:Lrwd1	UTSW	5	136,160,983 (GRCm39)	missense	probably damaging	1.00
R7873:Lrwd1	UTSW	5	136,152,792 (GRCm39)	missense	probably benign	0.00
R8033:Lrwd1	UTSW	5	136,152,079 (GRCm39)	missense	probably damaging	1.00
R8738:Lrwd1	UTSW	5	136,162,257 (GRCm39)	nonsense	probably null
R8828:Lrwd1	UTSW	5	136,164,787 (GRCm39)	missense	probably benign	0.00
R8841:Lrwd1	UTSW	5	136,152,037 (GRCm39)	missense	possibly damaging	0.51
R9515:Lrwd1	UTSW	5	136,160,413 (GRCm39)	missense	probably benign	0.09
R9767:Lrwd1	UTSW	5	136,162,856 (GRCm39)	missense	possibly damaging	0.77
Z1176:Lrwd1	UTSW	5	136,162,862 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrwd1	UTSW	5	136,160,395 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCTCTTTCAGGAGGTGTTCAAC -3'
(R):5'- TGAGGACTCCAAGGTGTCAG -3'

Sequencing Primer
(F):5'- CAGGAGGTGTTCAACATCATAGATCC -3'
(R):5'- TGGGTAAGTGAGCCCAGCTG -3'

Posted On

2016-11-21