Incidental Mutation 'IGL01919:Lrwd1'
ID 180040
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 # IGL01919
Quality Score
Status
Chromosome 5
Chromosomal Location 136151920-136164928 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 136164729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 26 (L26*)
Ref Sequence ENSEMBL: ENSMUSP00000121513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041100] [ENSMUST00000100568] [ENSMUST00000125923] [ENSMUST00000136634] [ENSMUST00000150406] [ENSMUST00000143229]
AlphaFold Q8BUI3
Predicted Effect probably null
Transcript: ENSMUST00000006301
AA Change: L26*
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: L26*

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: ENSMUST00000041100
SMART Domains Protein: ENSMUSP00000040403
Gene: ENSMUSG00000039754

DomainStartEndE-ValueType
low complexity region 252 263 N/A INTRINSIC
low complexity region 281 293 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100568
SMART Domains Protein: ENSMUSP00000098134
Gene: ENSMUSG00000039754

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy 61 186 2.1e-8 PFAM
low complexity region 196 208 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125923
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132976
Predicted Effect probably benign
Transcript: ENSMUST00000136634
Predicted Effect probably null
Transcript: ENSMUST00000150406
AA Change: L26*
SMART Domains Protein: ENSMUSP00000121513
Gene: ENSMUSG00000029703
AA Change: L26*

DomainStartEndE-ValueType
LRR_TYP 55 78 3.16e-3 SMART
LRR 99 122 1.58e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149673
Predicted Effect probably benign
Transcript: ENSMUST00000143229
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,608,580 (GRCm39) probably null Het
Alms1 T C 6: 85,604,986 (GRCm39) F2212S possibly damaging Het
Anpep T C 7: 79,475,098 (GRCm39) I155V possibly damaging Het
Aoc1 G A 6: 48,885,223 (GRCm39) V653M probably damaging Het
Arl8b T C 6: 108,798,518 (GRCm39) probably benign Het
Bax A C 7: 45,115,552 (GRCm39) probably null Het
Cpne7 G A 8: 123,852,382 (GRCm39) E195K probably damaging Het
Csmd3 A G 15: 47,539,168 (GRCm39) I2330T possibly damaging Het
Dnajc16 A G 4: 141,501,940 (GRCm39) S297P probably benign Het
Farp2 A G 1: 93,504,155 (GRCm39) K311E probably damaging Het
Fhad1 A G 4: 141,691,906 (GRCm39) L410P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm12185 T C 11: 48,798,886 (GRCm39) T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hydin C T 8: 111,245,806 (GRCm39) T2173I possibly damaging Het
Kpnb1 A G 11: 97,055,556 (GRCm39) V783A probably benign Het
Krt1 A G 15: 101,754,811 (GRCm39) V509A unknown Het
Mal2 T A 15: 54,451,728 (GRCm39) W50R probably damaging Het
Map3k21 A T 8: 126,668,871 (GRCm39) E819V probably damaging Het
Mrgprx3-ps T C 7: 46,959,959 (GRCm39) T11A probably benign Het
Mroh2b T C 15: 4,953,170 (GRCm39) F635L probably benign Het
Mylip G A 13: 45,562,178 (GRCm39) E327K probably damaging Het
Nfix T C 8: 85,453,103 (GRCm39) D308G probably damaging Het
Or1l8 G A 2: 36,817,824 (GRCm39) Q101* probably null Het
Or7e166 G A 9: 19,624,638 (GRCm39) V172I probably benign Het
Psma6 A G 12: 55,454,254 (GRCm39) E26G probably damaging Het
Rgs16 T A 1: 153,617,804 (GRCm39) S105T probably damaging Het
Slc25a23 T A 17: 57,354,291 (GRCm39) N372Y possibly damaging Het
Slc35e2 A G 4: 155,697,187 (GRCm39) M234V probably benign Het
Tbc1d8 A G 1: 39,431,334 (GRCm39) V346A probably damaging Het
Tgfb1i1 C T 7: 127,847,654 (GRCm39) probably benign Het
Triml2 A C 8: 43,643,349 (GRCm39) T177P probably damaging Het
Uba6 T C 5: 86,267,245 (GRCm39) T959A probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript 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
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
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 2014-05-07