Incidental Mutation 'IGL02327:Lrwd1'
ID 288530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrwd1
Ensembl Gene ENSMUSG00000029703
Gene Name leucine-rich repeats and WD repeat domain containing 1
Synonyms Orca, 1200011O22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # IGL02327
Quality Score
Status
Chromosome 5
Chromosomal Location 136151920-136164928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136152318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 582 (Y582C)
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: Y582C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: Y582C

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: ENSMUST00000199799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142272
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,943,849 (GRCm39) C29S probably damaging Het
Ccdc66 G A 14: 27,215,343 (GRCm39) A399V probably damaging Het
Ccl12 A G 11: 81,993,948 (GRCm39) I68M possibly damaging Het
Cd244a T C 1: 171,386,909 (GRCm39) V6A probably benign Het
Cfap97 T A 8: 46,623,179 (GRCm39) S190T probably damaging Het
Chic2 G T 5: 75,187,741 (GRCm39) C106* probably null Het
Ctdsp2 G A 10: 126,832,251 (GRCm39) D237N probably benign Het
Cyp2a22 A T 7: 26,634,206 (GRCm39) M316K probably damaging Het
Cyp3a25 A G 5: 145,923,731 (GRCm39) F304S possibly damaging Het
Ddc A T 11: 11,813,739 (GRCm39) V209D probably damaging Het
Dhx16 A G 17: 36,194,717 (GRCm39) K446R probably benign Het
Fgd3 T C 13: 49,439,274 (GRCm39) K241E probably damaging Het
Hps1 G T 19: 42,744,784 (GRCm39) probably benign Het
Inpp4b C T 8: 82,768,591 (GRCm39) T700I probably benign Het
Kremen2 T A 17: 23,962,543 (GRCm39) M157L probably benign Het
Macf1 T A 4: 123,365,523 (GRCm39) R1514S probably benign Het
Mex3c T A 18: 73,723,781 (GRCm39) C625S probably damaging Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Ncf2 A T 1: 152,692,744 (GRCm39) Y87F possibly damaging Het
Neo1 T C 9: 58,810,371 (GRCm39) T1027A probably benign Het
Nfkbib G T 7: 28,458,568 (GRCm39) P347Q probably benign Het
Nr1h2 G A 7: 44,200,924 (GRCm39) probably benign Het
Or1e25 A T 11: 73,493,981 (GRCm39) T192S probably damaging Het
Or2t43 T A 11: 58,457,761 (GRCm39) R137W probably damaging Het
Or9m2 A T 2: 87,820,601 (GRCm39) I49F probably damaging Het
Oxct1 A G 15: 4,066,571 (GRCm39) probably null Het
Pak1ip1 T G 13: 41,165,893 (GRCm39) N308K probably benign Het
Prpf38a T C 4: 108,425,607 (GRCm39) R224G unknown Het
Scfd1 T C 12: 51,436,100 (GRCm39) V83A possibly damaging Het
Tmem131 C T 1: 36,838,103 (GRCm39) G1545D probably damaging Het
Trav13n-4 A T 14: 53,601,567 (GRCm39) probably benign Het
Ttc3 A G 16: 94,248,967 (GRCm39) D1155G probably damaging Het
Unc80 G A 1: 66,680,832 (GRCm39) V2143I probably benign Het
Vmn2r16 T C 5: 109,487,987 (GRCm39) Y287H probably benign Het
Vmn2r59 A G 7: 41,661,655 (GRCm39) V720A probably benign Het
Wars1 T A 12: 108,832,227 (GRCm39) probably null Het
Wdcp A G 12: 4,901,115 (GRCm39) K324E possibly damaging Het
Wdfy3 A T 5: 102,036,058 (GRCm39) L2105H probably damaging Het
Xirp2 A T 2: 67,340,444 (GRCm39) D895V probably damaging Het
Zscan10 A T 17: 23,826,546 (GRCm39) probably benign 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
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
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
Posted On 2015-04-16