Mutagenetix > Incidental Mutation

Incidental Mutation 'R0614:Lrwd1'

54938

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

038803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R0614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136151920-136164928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136152354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 570 (V570A)

Ref Sequence

ENSEMBL: ENSMUSP00000006301 (fasta)

Gene Model

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

AlphaFold

Q8BUI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000006301
AA Change: V570A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: V570A

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

0.5889

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (61/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,340,782 (GRCm39)	T137I	probably benign	Het
3110082I17Rik	C	T	5: 139,349,786 (GRCm39)	V88I	possibly damaging	Het
4930453N24Rik	T	A	16: 64,586,977 (GRCm39)	Q249L	probably damaging	Het
Ap1g2	C	T	14: 55,337,230 (GRCm39)	V702I	probably benign	Het
Armcx5	G	A	X: 134,647,564 (GRCm39)	E547K	probably damaging	Het
Asah2	C	A	19: 31,994,128 (GRCm39)	V406L	probably damaging	Het
Atp8b1	T	C	18: 64,666,658 (GRCm39)		probably benign	Het
Axl	C	A	7: 25,473,588 (GRCm39)	R346L	probably benign	Het
Baz1a	G	A	12: 54,988,304 (GRCm39)	R282*	probably null	Het
Card14	A	G	11: 119,213,653 (GRCm39)	N200S	probably benign	Het
Cdt1	A	G	8: 123,294,876 (GRCm39)	T28A	probably benign	Het
Cep250	C	T	2: 155,812,017 (GRCm39)	Q438*	probably null	Het
Dapk1	C	A	13: 60,865,946 (GRCm39)	P181Q	probably damaging	Het
Dnah17	C	T	11: 117,961,394 (GRCm39)		probably benign	Het
Dph7	T	C	2: 24,858,968 (GRCm39)		probably null	Het
Edc4	A	T	8: 106,616,028 (GRCm39)	D801V	possibly damaging	Het
Eif4g2	A	G	7: 110,676,430 (GRCm39)		probably null	Het
Eml2	T	C	7: 18,936,516 (GRCm39)	L531P	probably damaging	Het
Ephb2	T	C	4: 136,400,676 (GRCm39)	Y533C	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fsip2	A	G	2: 82,807,877 (GRCm39)	K1399E	probably benign	Het
Hcls1	A	G	16: 36,782,987 (GRCm39)	D446G	probably damaging	Het
Hif1a	T	A	12: 73,992,405 (GRCm39)	N787K	probably damaging	Het
Ints14	T	C	9: 64,871,715 (GRCm39)	S18P	probably benign	Het
Kalrn	A	T	16: 33,814,040 (GRCm39)		probably benign	Het
Llgl2	T	A	11: 115,741,093 (GRCm39)	D502E	probably damaging	Het
Mga	C	G	2: 119,794,947 (GRCm39)	P2877R	probably damaging	Het
Mvd	T	C	8: 123,163,292 (GRCm39)	I313V	probably benign	Het
Myo15b	C	A	11: 115,773,739 (GRCm39)	P270T	probably damaging	Het
Naip1	C	A	13: 100,580,708 (GRCm39)	V180L	probably benign	Het
Ofd1	T	C	X: 165,218,536 (GRCm39)		probably benign	Het
Or1j19	T	A	2: 36,676,705 (GRCm39)	L56H	probably damaging	Het
Or4c125	T	A	2: 89,170,329 (GRCm39)	I106F	probably damaging	Het
Or4d11	A	T	19: 12,013,929 (GRCm39)	M59K	possibly damaging	Het
Otogl	G	A	10: 107,634,216 (GRCm39)	P1420S	probably benign	Het
Pakap	C	A	4: 57,856,720 (GRCm39)	A926E	probably benign	Het
Pcnt	C	T	10: 76,256,150 (GRCm39)	V697M	probably damaging	Het
Plekha7	A	T	7: 115,753,880 (GRCm39)	Y702*	probably null	Het
Plxnb3	A	G	X: 72,807,964 (GRCm39)		probably benign	Het
Ptgis	A	G	2: 167,048,802 (GRCm39)	F405L	probably damaging	Het
Ptprk	C	T	10: 27,951,132 (GRCm39)	P19L	probably damaging	Het
Ptprt	A	G	2: 161,654,040 (GRCm39)	V530A	possibly damaging	Het
Rasgrp4	A	T	7: 28,845,276 (GRCm39)	Y299F	probably damaging	Het
Slc39a11	T	A	11: 113,414,452 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,240,213 (GRCm39)	L312*	probably null	Het
Slf1	T	A	13: 77,197,233 (GRCm39)	M794L	probably benign	Het
Sntg2	G	A	12: 30,307,977 (GRCm39)	T236I	possibly damaging	Het
Stau1	T	C	2: 166,792,726 (GRCm39)	Y413C	probably damaging	Het
Syne2	T	G	12: 75,959,127 (GRCm39)		probably null	Het
Tas2r104	A	T	6: 131,662,165 (GRCm39)	N181K	probably damaging	Het
Tmem81	G	A	1: 132,435,469 (GRCm39)	V92I	probably benign	Het
Trap1	A	G	16: 3,878,615 (GRCm39)		probably benign	Het
Trip12	T	C	1: 84,735,482 (GRCm39)	E905G	probably damaging	Het
Usp2	C	T	9: 44,003,789 (GRCm39)	R494*	probably null	Het
Vps13a	G	T	19: 16,630,058 (GRCm39)	R2692S	probably damaging	Het
Zfhx3	T	C	8: 109,675,171 (GRCm39)	S2074P	probably benign	Het
Zfhx3	C	G	8: 109,675,599 (GRCm39)	Y2216*	probably null	Het
Zfp423	A	G	8: 88,508,742 (GRCm39)	F409S	probably damaging	Het
Zfp472	G	A	17: 33,196,908 (GRCm39)	E328K	possibly damaging	Het
Zfp619	T	A	7: 39,187,099 (GRCm39)	M1043K	possibly damaging	Het
Zfp940	T	C	7: 29,545,671 (GRCm39)	I79V	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
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
R5771:Lrwd1	UTSW	5	136,152,516 (GRCm39)	missense	possibly damaging	0.95
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'- GGTACAAAGCCCTCTCCCATTAGC -3'
(R):5'- AGTCTGTGTTGCCCGTAGTCATCC -3'

Sequencing Primer
(F):5'- TTGTGCAGGCAGACTAGCATC -3'
(R):5'- TAGTCATCCTGGTCCGGC -3'

Posted On

2013-07-11