Incidental Mutation 'IGL01593:Lrwd1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrwd1
Ensembl Gene ENSMUSG00000029703
Gene Nameleucine-rich repeats and WD repeat domain containing 1
Synonyms1200011O22Rik, Orca
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.824) question?
Stock #IGL01593
Quality Score
Chromosomal Location136122772-136136074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 136134629 bp
Amino Acid Change Leucine to Glutamine at position 71 (L71Q)
Ref Sequence ENSEMBL: ENSMUSP00000121513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041100] [ENSMUST00000100568] [ENSMUST00000125923] [ENSMUST00000136634] [ENSMUST00000143229] [ENSMUST00000150406]
Predicted Effect probably damaging
Transcript: ENSMUST00000006301
AA Change: L62Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: L62Q

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

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

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 probably benign
Transcript: ENSMUST00000128255
SMART Domains Protein: ENSMUSP00000119546
Gene: ENSMUSG00000029703

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 probably benign
Transcript: ENSMUST00000143229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149673
Predicted Effect probably damaging
Transcript: ENSMUST00000150406
AA Change: L71Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121513
Gene: ENSMUSG00000029703
AA Change: L71Q

LRR_TYP 55 78 3.16e-3 SMART
LRR 99 122 1.58e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199786
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,650 I310N probably damaging Het
Ackr4 C T 9: 104,085,931 probably benign Het
Ankib1 A T 5: 3,732,590 D346E probably benign Het
Armc4 T C 18: 7,127,345 K956R probably benign Het
Asap2 G T 12: 21,213,202 A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 R219L probably damaging Het
Atp6v1e2 A T 17: 86,944,299 F224I probably damaging Het
Bnc2 T C 4: 84,276,241 probably null Het
Btbd11 T A 10: 85,654,475 probably benign Het
Cd33 A G 7: 43,530,281 L241P possibly damaging Het
Clec4g A T 8: 3,719,474 probably null Het
Dym C T 18: 75,114,781 probably benign Het
Enpp5 A G 17: 44,080,721 T14A probably benign Het
Ggt1 T C 10: 75,585,287 probably null Het
Gm17541 T A 12: 4,689,868 probably benign Het
Gpr39 A T 1: 125,677,451 I39F probably benign Het
Kcnb1 G T 2: 167,106,207 F240L probably damaging Het
Kcnt1 T A 2: 25,898,754 V400E probably damaging Het
Klhdc7a A G 4: 139,966,814 I274T probably damaging Het
Mycbp2 A T 14: 103,291,287 probably null Het
Nckap1 A T 2: 80,520,570 M725K probably benign Het
Olfr1535 T A 13: 21,555,219 I268F probably damaging Het
Pole2 C T 12: 69,223,099 probably null Het
Prss32 A G 17: 23,856,008 T111A probably benign Het
Rgs9 A G 11: 109,249,049 probably benign Het
Slc2a4 A G 11: 69,944,828 C361R probably damaging Het
Ston1 G A 17: 88,637,010 G615R probably null Het
Tas2r139 T G 6: 42,140,957 W8G probably benign Het
Tmem101 A T 11: 102,155,878 L55Q probably damaging Het
Tnni3k T C 3: 154,941,029 probably null Het
Uba2 A G 7: 34,146,264 V478A probably damaging Het
Vps13a T C 19: 16,762,181 D52G probably damaging Het
Other mutations in Lrwd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01827:Lrwd1 APN 5 136131518 nonsense probably null
IGL01919:Lrwd1 APN 5 136135875 nonsense probably null
IGL02327:Lrwd1 APN 5 136123464 missense probably damaging 1.00
R0614:Lrwd1 UTSW 5 136123500 missense probably damaging 0.99
R0882:Lrwd1 UTSW 5 136123400 splice site probably null
R1137:Lrwd1 UTSW 5 136133419 missense probably benign 0.01
R1164:Lrwd1 UTSW 5 136130990 missense probably benign 0.00
R1302:Lrwd1 UTSW 5 136132413 missense probably benign 0.05
R1838:Lrwd1 UTSW 5 136132388 missense probably benign 0.00
R2114:Lrwd1 UTSW 5 136130478 missense probably damaging 1.00
R2116:Lrwd1 UTSW 5 136130478 missense probably damaging 1.00
R2117:Lrwd1 UTSW 5 136130478 missense probably damaging 1.00
R4514:Lrwd1 UTSW 5 136131548 missense probably benign 0.00
R4595:Lrwd1 UTSW 5 136123956 missense probably benign
R5304:Lrwd1 UTSW 5 136131150 missense possibly damaging 0.49
R5384:Lrwd1 UTSW 5 136123874 missense possibly damaging 0.84
R5719:Lrwd1 UTSW 5 136132239 splice site probably null
R5771:Lrwd1 UTSW 5 136123662 missense possibly damaging 0.95
R5791:Lrwd1 UTSW 5 136131033 missense probably benign 0.44
R6431:Lrwd1 UTSW 5 136133034 missense possibly damaging 0.90
R7074:Lrwd1 UTSW 5 136123657 missense probably benign 0.01
R7132:Lrwd1 UTSW 5 136123275 missense possibly damaging 0.71
R7838:Lrwd1 UTSW 5 136132129 missense probably damaging 1.00
R7873:Lrwd1 UTSW 5 136123938 missense probably benign 0.00
R8033:Lrwd1 UTSW 5 136123225 missense probably damaging 1.00
Z1176:Lrwd1 UTSW 5 136134008 missense probably damaging 1.00
Z1177:Lrwd1 UTSW 5 136131541 missense possibly damaging 0.92
Posted On2013-12-09