Mutagenetix > Incidental Mutation

Incidental Mutation 'R6431:Lrwd1'

518530

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

044569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R6431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136151920-136164928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136161888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 207 (V207M)

Ref Sequence

ENSEMBL: ENSMUSP00000006301 (fasta)

Gene Model

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

AlphaFold

Q8BUI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006301
AA Change: V207M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: V207M

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: ENSMUST00000150406
AA Change: V216M

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000121513
Gene: ENSMUSG00000029703
AA Change: V216M

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: ENSMUST00000148475

Predicted Effect

probably benign
Transcript: ENSMUST00000143229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199786

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 93.9%

Validation Efficiency

100% (68/68)

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
Adcy5	A	G	16: 35,099,607 (GRCm39)	E719G	probably damaging	Het
Ankdd1a	A	G	9: 65,424,220 (GRCm39)	M31T	possibly damaging	Het
Atp13a5	T	C	16: 29,070,154 (GRCm39)	K911E	possibly damaging	Het
Bpifb3	G	T	2: 153,766,728 (GRCm39)	L210F	probably damaging	Het
Cacna1c	T	C	6: 118,728,334 (GRCm39)	Y211C	probably damaging	Het
Carm1	C	A	9: 21,494,373 (GRCm39)	P297T	probably damaging	Het
Cdh19	A	T	1: 110,852,787 (GRCm39)	Y383N	probably benign	Het
Cfap221	T	C	1: 119,860,583 (GRCm39)	H681R	probably damaging	Het
Cmya5	A	C	13: 93,210,972 (GRCm39)	S3274A	possibly damaging	Het
Cndp2	T	A	18: 84,693,203 (GRCm39)	K186*	probably null	Het
Ctdp1	G	T	18: 80,494,470 (GRCm39)	F310L	probably damaging	Het
Cyp2c55	A	T	19: 39,019,853 (GRCm39)	I264F	probably damaging	Het
Dhx40	A	T	11: 86,664,649 (GRCm39)	F628I	probably damaging	Het
Disc1	T	A	8: 125,862,128 (GRCm39)	M500K	possibly damaging	Het
Dnah5	A	C	15: 28,349,970 (GRCm39)	D2551A	possibly damaging	Het
Esyt1	A	G	10: 128,352,543 (GRCm39)		probably null	Het
Fam78a	T	C	2: 31,972,843 (GRCm39)	S26G	probably damaging	Het
Fn1	G	A	1: 71,687,003 (GRCm39)		probably null	Het
Gbx1	T	C	5: 24,709,916 (GRCm39)	T310A	probably benign	Het
Ggh	T	A	4: 20,042,219 (GRCm39)	C16S	unknown	Het
Gm11595	T	A	11: 99,663,600 (GRCm39)	T27S	unknown	Het
Gm17334	T	A	11: 53,663,564 (GRCm39)		probably benign	Het
Gsk3b	A	G	16: 38,014,311 (GRCm39)	I256M	probably damaging	Het
Hmcn1	A	T	1: 150,620,711 (GRCm39)	S1166R	probably benign	Het
Hyou1	T	C	9: 44,293,322 (GRCm39)		probably null	Het
Jup	G	T	11: 100,265,167 (GRCm39)	R637S	probably benign	Het
Lama2	T	A	10: 26,929,027 (GRCm39)	I2087F	possibly damaging	Het
Lamc1	T	G	1: 153,097,417 (GRCm39)	K1542N	probably benign	Het
Lgals4	G	T	7: 28,540,117 (GRCm39)			Het
Lrrc8d	A	G	5: 105,959,626 (GRCm39)	D12G	probably damaging	Het
Mbd1	T	A	18: 74,406,762 (GRCm39)		probably null	Het
Msi1	T	A	5: 115,588,984 (GRCm39)	I333N	probably damaging	Het
Neo1	C	T	9: 58,814,354 (GRCm39)	V871I	probably benign	Het
Nr2c1	T	C	10: 94,024,078 (GRCm39)	C428R	probably damaging	Het
Ntm	A	G	9: 29,322,978 (GRCm39)	L14P	probably damaging	Het
Nxpe4	A	T	9: 48,304,145 (GRCm39)	K77N	probably damaging	Het
Or1p1c	A	C	11: 74,160,235 (GRCm39)	T7P	possibly damaging	Het
Or4c119	T	A	2: 88,987,505 (GRCm39)	S5C	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,001 (GRCm39)	M132K	probably damaging	Het
Or8g30	T	C	9: 39,230,074 (GRCm39)	T279A	possibly damaging	Het
Or8k18	G	A	2: 86,085,702 (GRCm39)	L112F	probably benign	Het
Pappa	T	A	4: 65,074,701 (GRCm39)	D418E	probably damaging	Het
Pde4d	G	A	13: 109,738,320 (GRCm39)		probably null	Het
Pip	A	G	6: 41,828,391 (GRCm39)	N75S	possibly damaging	Het
Plcl1	G	C	1: 55,736,411 (GRCm39)	R584P	probably benign	Het
Pnp	A	T	14: 51,188,471 (GRCm39)	D237V	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,281 (GRCm39)	W857R	probably damaging	Het
Pramel13	T	C	4: 144,119,653 (GRCm39)	T305A	possibly damaging	Het
Ptchd3	A	T	11: 121,727,229 (GRCm39)	M368L	probably benign	Het
Pum1	T	A	4: 130,501,816 (GRCm39)	S868R	probably damaging	Het
R3hdml	A	T	2: 163,344,324 (GRCm39)	S238C	probably damaging	Het
Robo2	G	A	16: 73,843,697 (GRCm39)	R173*	probably null	Het
Sall3	A	G	18: 81,016,402 (GRCm39)	S509P	possibly damaging	Het
Sap130	T	G	18: 31,799,418 (GRCm39)	H298Q	possibly damaging	Het
Selenov	C	A	7: 27,987,458 (GRCm39)	G307C	probably damaging	Het
Setd2	T	A	9: 110,379,453 (GRCm39)	H1089Q	possibly damaging	Het
Setdb2	T	C	14: 59,656,505 (GRCm39)	N287D	probably damaging	Het
Sis	C	T	3: 72,865,507 (GRCm39)	V182I	probably benign	Het
Slc32a1	A	C	2: 158,453,457 (GRCm39)	D99A	probably benign	Het
Slk	A	G	19: 47,609,327 (GRCm39)	D760G	probably damaging	Het
Smg5	T	A	3: 88,258,527 (GRCm39)	D499E	probably benign	Het
Spata31e2	T	A	1: 26,723,111 (GRCm39)	N690Y	probably benign	Het
Stat3	T	C	11: 100,780,400 (GRCm39)	T720A	possibly damaging	Het
Trdn	T	G	10: 33,015,110 (GRCm39)	N21K	probably damaging	Het
Trpm4	A	T	7: 44,975,992 (GRCm39)	V118E	possibly damaging	Het
Vgll3	A	G	16: 65,612,640 (GRCm39)	Q41R	probably damaging	Het
Vmn1r189	A	G	13: 22,286,525 (GRCm39)	V104A	probably damaging	Het
Vmn1r46	A	T	6: 89,953,389 (GRCm39)	R79S	probably benign	Het
Zscan4c	T	C	7: 10,740,856 (GRCm39)	M125T	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
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
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'- ATGGGGCTACTCTGGAGTAC -3'
(R):5'- AGTTGTCCTGGAGAAGTTCCTG -3'

Sequencing Primer
(F):5'- GGTTCTTGATGGCCACAAGATTCAC -3'
(R):5'- CTGGAGAAGTTCCTGGTTGTGAG -3'

Posted On

2018-05-24