Incidental Mutation 'R7132:Lrwd1'
ID 552740
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 045217-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R7132 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 136151920-136164928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136152129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 616 (V616A)
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: V616A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: V616A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 C T 10: 69,825,744 (GRCm39) A1471V Het
Ankrd12 C A 17: 66,290,242 (GRCm39) M1730I probably benign Het
Ap2a2 T C 7: 141,199,478 (GRCm39) Y462H probably benign Het
Ap5b1 T A 19: 5,619,412 (GRCm39) Y277* probably null Het
App T C 16: 84,853,370 (GRCm39) D236G unknown Het
Arid2 A T 15: 96,247,894 (GRCm39) K102I possibly damaging Het
Asl A G 5: 130,043,543 (GRCm39) V211A possibly damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cbx2 A G 11: 118,913,947 (GRCm39) S5G probably benign Het
Ccdc183 A G 2: 25,506,542 (GRCm39) probably null Het
Cd72 T C 4: 43,452,444 (GRCm39) Q183R possibly damaging Het
Cdh26 T A 2: 178,128,555 (GRCm39) D702E possibly damaging Het
Cfap61 A T 2: 145,951,870 (GRCm39) N784I probably damaging Het
Cgrrf1 G A 14: 47,091,321 (GRCm39) V282M probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cobll1 T G 2: 64,964,112 (GRCm39) K170Q probably damaging Het
Copg2 A T 6: 30,792,931 (GRCm39) V468D probably benign Het
Cracr2b C T 7: 141,043,651 (GRCm39) A84V probably benign Het
Cyp2f2 A T 7: 26,831,993 (GRCm39) D416V probably benign Het
Dcaf10 T C 4: 45,342,391 (GRCm39) F75S probably benign Het
Eml3 G T 19: 8,918,392 (GRCm39) A829S probably benign Het
Entpd3 A G 9: 120,390,086 (GRCm39) T402A probably benign Het
Fer1l4 A T 2: 155,887,546 (GRCm39) V550E probably damaging Het
Fgb G A 3: 82,954,053 (GRCm39) R62* probably null Het
Fubp1 T A 3: 151,937,661 (GRCm39) probably null Het
Gdf3 A C 6: 122,583,283 (GRCm39) D361E probably damaging Het
Gm6685 A T 11: 28,289,330 (GRCm39) I162N probably damaging Het
Hmx2 A G 7: 131,157,645 (GRCm39) Y253C probably damaging Het
Ints2 G T 11: 86,108,580 (GRCm39) N922K probably benign Het
Ipo7 C T 7: 109,653,254 (GRCm39) L984F probably benign Het
Itgae A T 11: 73,002,184 (GRCm39) Y96F possibly damaging Het
Kalrn A G 16: 34,076,597 (GRCm39) V697A unknown Het
Kctd18 G A 1: 58,006,737 (GRCm39) R38* probably null Het
Kdm5b A G 1: 134,526,844 (GRCm39) D322G probably damaging Het
Ldb3 A G 14: 34,298,992 (GRCm39) Y211H probably benign Het
Limch1 T C 5: 67,111,028 (GRCm39) F85S probably damaging Het
Lrrn4 A T 2: 132,721,613 (GRCm39) L68* probably null Het
Nars1 A G 18: 64,640,841 (GRCm39) probably null Het
Nradd T C 9: 110,451,329 (GRCm39) D13G probably benign Het
Oacyl A T 18: 65,831,480 (GRCm39) N39I probably damaging Het
Onecut2 A T 18: 64,473,983 (GRCm39) H178L possibly damaging Het
Or9i14 T A 19: 13,792,786 (GRCm39) Q56L probably benign Het
Pcdhga4 A C 18: 37,820,430 (GRCm39) T660P probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,942,102 (GRCm39) I902F possibly damaging Het
Plod3 T C 5: 137,023,971 (GRCm39) L180S Het
Prrc2c A T 1: 162,508,850 (GRCm39) H2354Q possibly damaging Het
Pth2r A G 1: 65,361,225 (GRCm39) E58G probably benign Het
Rev1 G T 1: 38,110,530 (GRCm39) D573E possibly damaging Het
Sec24a A T 11: 51,605,963 (GRCm39) L696* probably null Het
Serpinb3c A G 1: 107,204,681 (GRCm39) S22P probably damaging Het
St18 A T 1: 6,929,351 (GRCm39) H81L Het
Stard9 A T 2: 120,509,859 (GRCm39) K266* probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Tcp10a C T 17: 7,612,351 (GRCm39) T381I probably benign Het
Tecpr2 T A 12: 110,881,806 (GRCm39) V125D probably damaging Het
Tmc2 T C 2: 130,074,329 (GRCm39) S341P possibly damaging Het
Tmem190 G A 7: 4,787,224 (GRCm39) V143I probably benign Het
Trap1 A G 16: 3,873,693 (GRCm39) Y288H probably benign Het
Trim39 T C 17: 36,571,547 (GRCm39) T404A probably benign Het
Ttn T A 2: 76,576,043 (GRCm39) K24950I probably damaging Het
Ttn G T 2: 76,774,696 (GRCm39) N2161K unknown Het
Unc13b T C 4: 43,215,757 (GRCm39) S19P probably benign Het
Uqcrc1 T A 9: 108,778,536 (GRCm39) I471N probably damaging Het
Wbp11 T C 6: 136,798,540 (GRCm39) T170A probably benign Het
Wnk4 A G 11: 101,152,026 (GRCm39) I177V probably benign Het
Zfp455 C A 13: 67,347,230 (GRCm39) P51T probably damaging Het
Zfp946 T C 17: 22,673,644 (GRCm39) Y133H probably benign Het
Zfp955a A T 17: 33,460,589 (GRCm39) Y514* probably null Het
Zzef1 T C 11: 72,808,697 (GRCm39) probably null 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
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
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'- ACTGGCCTCCACTCTACAATAG -3'
(R):5'- TTGAACACCTCCTGAAAGAGC -3'

Sequencing Primer
(F):5'- AAATACTCACTGGTACAAAGCCCTC -3'
(R):5'- TCCTGAAAGAGCCTCCACAGG -3'
Posted On 2019-05-15