Incidental Mutation 'R0882:Lrwd1'
ID 80633
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 039049-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R0882 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 136151920-136164928 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 136152254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041366] [ENSMUST00000111127] [ENSMUST00000111129]
AlphaFold Q8BUI3
Predicted Effect probably null
Transcript: ENSMUST00000006301
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Adh1 A T 3: 137,992,558 (GRCm39) I225F possibly damaging Het
Agap2 A G 10: 126,923,319 (GRCm39) K691E unknown Het
Alcam T C 16: 52,073,573 (GRCm39) D564G possibly damaging Het
Apbb2 T A 5: 66,557,598 (GRCm39) T289S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cep68 T C 11: 20,189,393 (GRCm39) I540V probably benign Het
Ctla4 T C 1: 60,948,397 (GRCm39) V23A probably benign Het
Dnah7b T A 1: 46,379,292 (GRCm39) D3675E probably benign Het
Fam209 G T 2: 172,314,555 (GRCm39) V15F probably benign Het
Fat3 A G 9: 15,942,664 (GRCm39) V1236A possibly damaging Het
Gabbr2 A G 4: 46,718,904 (GRCm39) I38T probably damaging Het
Gdpd4 T C 7: 97,615,505 (GRCm39) I110T probably damaging Het
Gm4841 C T 18: 60,402,852 (GRCm39) A414T possibly damaging Het
Gtf3c4 A T 2: 28,724,782 (GRCm39) Y176N probably damaging Het
H2bc18 G A 3: 96,177,060 (GRCm39) probably null Het
Igsf9b T C 9: 27,230,612 (GRCm39) Y264H probably damaging Het
Itih4 A T 14: 30,614,231 (GRCm39) N394Y probably damaging Het
Kmt2c T C 5: 25,500,605 (GRCm39) T3815A possibly damaging Het
Mc3r A G 2: 172,091,711 (GRCm39) K311R probably benign Het
Myb T C 10: 21,032,259 (GRCm39) T41A possibly damaging Het
Nfix T C 8: 85,454,554 (GRCm39) D201G probably damaging Het
Nos1 T C 5: 118,085,512 (GRCm39) V1280A probably damaging Het
Or51a5 A C 7: 102,771,782 (GRCm39) S66A probably benign Het
Or8a1b T C 9: 37,623,168 (GRCm39) M136V probably benign Het
Pcdh15 A G 10: 74,178,488 (GRCm39) T582A probably damaging Het
Pcdhb12 C A 18: 37,570,375 (GRCm39) A507E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pkp2 C A 16: 16,087,575 (GRCm39) A753E probably damaging Het
Plekha3 G A 2: 76,513,142 (GRCm39) V76I possibly damaging Het
Pnpla6 T C 8: 3,567,081 (GRCm39) L33P probably damaging Het
Pot1b C T 17: 55,973,400 (GRCm39) probably benign Het
Prr5l T C 2: 101,588,886 (GRCm39) E88G possibly damaging Het
Prss57 G A 10: 79,621,699 (GRCm39) H97Y probably damaging Het
Rttn C T 18: 88,991,813 (GRCm39) Q131* probably null Het
Scaf11 G T 15: 96,316,176 (GRCm39) S1129R possibly damaging Het
Slc25a20 T A 9: 108,559,189 (GRCm39) M185K possibly damaging Het
Sorbs3 T A 14: 70,445,021 (GRCm39) E19V probably damaging Het
Srgap2 A T 1: 131,217,253 (GRCm39) C1020S probably benign Het
Thoc2l T C 5: 104,666,875 (GRCm39) S466P probably benign Het
Tmem109 T C 19: 10,849,205 (GRCm39) R217G possibly damaging Het
Trio A T 15: 27,732,980 (GRCm39) I2967N probably damaging Het
Vars2 T C 17: 35,968,191 (GRCm39) E899G probably benign Het
Vmn2r109 A G 17: 20,774,842 (GRCm39) probably benign Het
Vps53 A G 11: 75,973,485 (GRCm39) F170L probably damaging Het
Zc2hc1a G A 3: 7,591,422 (GRCm39) S149N possibly damaging Het
Zfp820 A G 17: 22,042,817 (GRCm39) probably benign Het
Zhx3 A C 2: 160,622,629 (GRCm39) F513V probably damaging Het
Other mutations in Lrwd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGTCTGTGTTGCCCGTAGTCATC -3'

Sequencing Primer
(F):5'- TTGTGCAGGCAGACTAGCATC -3'
(R):5'- TAGTCATCCTGGTCCGGC -3'
Posted On 2013-11-07