Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Lrwd1'

205481

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

039865-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R1838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136151920-136164928 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136161242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 240 (V240A)

Ref Sequence

ENSEMBL: ENSMUSP00000006301 (fasta)

Gene Model

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

AlphaFold

Q8BUI3

Predicted Effect

probably benign
Transcript: ENSMUST00000006301
AA Change: V240A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: V240A

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

noncoding transcript
Transcript: ENSMUST00000149673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148475

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

probably benign
Transcript: ENSMUST00000143229

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,690 (GRCm39)	D22G	unknown	Het
Abca4	G	A	3: 121,921,954 (GRCm39)	R1170K	probably benign	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,142,581 (GRCm39)	R267L	probably damaging	Het
Adgrb2	A	T	4: 129,904,024 (GRCm39)	T717S	probably benign	Het
Adgrb3	A	G	1: 25,123,351 (GRCm39)	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,547,242 (GRCm39)	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Btnl6	T	A	17: 34,734,516 (GRCm39)	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,200,695 (GRCm39)	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,799,702 (GRCm39)		probably null	Het
Cdhr5	C	T	7: 140,852,516 (GRCm39)	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,822,525 (GRCm39)	D26G	probably damaging	Het
Ctr9	G	T	7: 110,651,510 (GRCm39)	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 26,857,841 (GRCm39)	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,909,894 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,436,949 (GRCm39)	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,743,415 (GRCm39)	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,155,337 (GRCm39)	V295A	probably benign	Het
Dnah7b	C	A	1: 46,316,265 (GRCm39)	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,767,719 (GRCm39)	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,830,660 (GRCm39)	I447L	probably benign	Het
Glt1d1	G	A	5: 127,755,193 (GRCm39)	V202I	probably benign	Het
Grk1	T	C	8: 13,466,155 (GRCm39)	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Gzma	T	A	13: 113,232,518 (GRCm39)	I131F	probably damaging	Het
Helq	A	T	5: 100,919,745 (GRCm39)	L35*	probably null	Het
Hnrnpll	T	C	17: 80,346,052 (GRCm39)	N403S	probably damaging	Het
Hsf5	A	G	11: 87,526,881 (GRCm39)	K518E	probably benign	Het
Ighe	T	A	12: 113,235,470 (GRCm39)	H258L	unknown	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Ints13	C	T	6: 146,468,109 (GRCm39)	A129T	possibly damaging	Het
Ipo7	T	A	7: 109,641,316 (GRCm39)	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,011,828 (GRCm39)	E136D	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,676,222 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,815,594 (GRCm39)	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,299,481 (GRCm39)	N114K	probably benign	Het
Lrfn1	A	T	7: 28,159,193 (GRCm39)	I371L	probably damaging	Het
Lypd1	A	T	1: 125,801,108 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Man2c1	A	G	9: 57,044,621 (GRCm39)	N354S	probably benign	Het
Map3k13	T	C	16: 21,732,939 (GRCm39)	Y514H	possibly damaging	Het
Med15	T	C	16: 17,471,426 (GRCm39)	D577G	probably benign	Het
Mroh4	A	T	15: 74,487,962 (GRCm39)	M320K	probably benign	Het
Ms4a10	T	A	19: 10,941,411 (GRCm39)	D186V	possibly damaging	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,180,835 (GRCm39)	R741S	probably damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Naip6	T	C	13: 100,452,644 (GRCm39)	D139G	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or2p2	A	T	13: 21,256,595 (GRCm39)	L292*	probably null	Het
Or4a79	A	T	2: 89,552,053 (GRCm39)	M134K	probably damaging	Het
Or8g2	A	T	9: 39,821,137 (GRCm39)	I13F	possibly damaging	Het
Pcdhb3	A	G	18: 37,434,370 (GRCm39)	D112G	probably benign	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Pgm3	C	T	9: 86,451,286 (GRCm39)	V123I	probably benign	Het
Pms1	A	C	1: 53,231,257 (GRCm39)		probably null	Het
Prl2b1	A	G	13: 27,572,549 (GRCm39)	S14P	possibly damaging	Het
Prune2	T	A	19: 17,177,242 (GRCm39)	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,241,862 (GRCm39)	E422G	probably benign	Het
Ralyl	A	G	3: 14,208,472 (GRCm39)	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,558,962 (GRCm39)		probably benign	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,067,067 (GRCm39)	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,215,778 (GRCm39)	H63L	probably benign	Het
Smpd4	G	A	16: 17,460,166 (GRCm39)		probably null	Het
Sp3	A	G	2: 72,768,520 (GRCm39)	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,863,671 (GRCm39)	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,865,279 (GRCm39)	R809K	probably benign	Het
Tmco5	A	T	2: 116,711,360 (GRCm39)	E90V	probably damaging	Het
Tnxb	A	T	17: 34,897,884 (GRCm39)	D844V	probably damaging	Het
Tpi1	T	C	6: 124,791,115 (GRCm39)	T41A	probably benign	Het
Ttn	T	C	2: 76,557,536 (GRCm39)	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,001,730 (GRCm39)	T5I	probably benign	Het
Wdr95	A	G	5: 149,522,831 (GRCm39)	D663G	probably benign	Het
Zbtb39	T	C	10: 127,578,569 (GRCm39)	F381S	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp646	T	A	7: 127,478,911 (GRCm39)	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,190,111 (GRCm39)	C139G	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	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
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'- TTTCTGCTATGACACTGCAGG -3'
(R):5'- TTTAAGTGCCCAGCCCTAAC -3'

Sequencing Primer
(F):5'- CAGGAAGTGCAGGGGTTCC -3'
(R):5'- TAACACGGAGCAAGGTCCC -3'

Posted On

2014-06-23