Incidental Mutation 'R1137:Lrwd1'
ID 95148
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 039210-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R1137 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 136151920-136164928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136162273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 162 (I162M)
Ref Sequence ENSEMBL: ENSMUSP00000121513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041100] [ENSMUST00000125923] [ENSMUST00000136634] [ENSMUST00000150406] [ENSMUST00000143229]
AlphaFold Q8BUI3
Predicted Effect probably benign
Transcript: ENSMUST00000006301
AA Change: I153M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: I153M

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: ENSMUST00000125923
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 probably benign
Transcript: ENSMUST00000136634
Predicted Effect probably benign
Transcript: ENSMUST00000150406
AA Change: I162M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000121513
Gene: ENSMUSG00000029703
AA Change: I162M

DomainStartEndE-ValueType
LRR_TYP 55 78 3.16e-3 SMART
LRR 99 122 1.58e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139908
Predicted Effect probably benign
Transcript: ENSMUST00000143229
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,256 (GRCm39) S54T probably benign Het
Ahdc1 A G 4: 132,789,424 (GRCm39) T222A possibly damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Cep250 A G 2: 155,832,760 (GRCm39) K1561E probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Clca4a A G 3: 144,676,446 (GRCm39) V78A probably damaging Het
Clec4n G A 6: 123,223,526 (GRCm39) M170I possibly damaging Het
Cp G T 3: 20,033,116 (GRCm39) A648S probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dnah8 A G 17: 31,074,910 (GRCm39) D4543G probably damaging Het
Elp3 A G 14: 65,785,370 (GRCm39) V477A probably damaging Het
Exoc6b A G 6: 84,885,205 (GRCm39) S245P probably benign Het
Fkbp9 G T 6: 56,837,682 (GRCm39) G312V probably damaging Het
Htr4 A G 18: 62,570,624 (GRCm39) I226M probably damaging Het
Impa2 G A 18: 67,451,497 (GRCm39) V264I probably benign Het
Kif20b T C 19: 34,914,486 (GRCm39) probably null Het
Kmt2c C A 5: 25,515,981 (GRCm39) V2621F possibly damaging Het
Lif A G 11: 4,219,237 (GRCm39) D172G probably damaging Het
Llgl1 C A 11: 60,595,559 (GRCm39) H82N probably benign Het
Mdn1 T A 4: 32,694,511 (GRCm39) I1078N probably damaging Het
Muc1 A T 3: 89,137,745 (GRCm39) T196S probably benign Het
Myh7b T C 2: 155,464,634 (GRCm39) L657P probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Ppp1cb T C 5: 32,645,015 (GRCm39) M55T probably damaging Het
Ppp1r9a T C 6: 5,159,697 (GRCm39) M1078T possibly damaging Het
Rarg T C 15: 102,149,595 (GRCm39) T125A probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Slc5a7 G A 17: 54,600,039 (GRCm39) R125C probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tigit G T 16: 43,469,485 (GRCm39) T202N probably benign Het
Tmem132b C T 5: 125,860,606 (GRCm39) A617V possibly damaging Het
Tpm1 T C 9: 66,938,400 (GRCm39) probably null Het
Ubr3 A G 2: 69,768,659 (GRCm39) probably benign Het
Vcan T A 13: 89,852,422 (GRCm39) D846V probably damaging Het
Vmn1r16 T G 6: 57,300,221 (GRCm39) N134H 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
R0882:Lrwd1 UTSW 5 136,152,254 (GRCm39) splice site probably null
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'- TCTCCAGGACAACTGAGAGTCAGG -3'
(R):5'- TATGCAGCAAGCACAGCAGGAC -3'

Sequencing Primer
(F):5'- TGAGAGTCAGGAAAACCAAACC -3'
(R):5'- gactcttctgcctcagcc -3'
Posted On 2014-01-05