Incidental Mutation 'R7074:Lrwd1'
ID 549095
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 045242-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R7074 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 136151920-136164928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136152511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 547 (V547I)
Ref Sequence ENSEMBL: ENSMUSP00000006301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000041366] [ENSMUST00000111127] [ENSMUST00000111129]
AlphaFold Q8BUI3
Predicted Effect probably benign
Transcript: ENSMUST00000006301
AA Change: V547I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: V547I

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,340,433 (GRCm39) I53L probably benign Het
Acss2 T C 2: 155,363,961 (GRCm39) L80P possibly damaging Het
Adam3 A T 8: 25,184,363 (GRCm39) F546I probably benign Het
Adtrp A T 13: 41,981,617 (GRCm39) probably null Het
Anapc1 G T 2: 128,520,194 (GRCm39) P208T probably damaging Het
Ankrd33 A G 15: 101,017,430 (GRCm39) K281R probably benign Het
Bcl11b A G 12: 107,955,766 (GRCm39) S128P probably benign Het
Ccdc57 T C 11: 120,794,200 (GRCm39) K265E possibly damaging Het
Cep72 A G 13: 74,199,699 (GRCm39) C244R probably benign Het
Cope A G 8: 70,765,537 (GRCm39) Q303R probably benign Het
Cpd T A 11: 76,704,420 (GRCm39) N398I probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Dixdc1 T A 9: 50,601,214 (GRCm39) E344D possibly damaging Het
Dock7 A T 4: 98,833,445 (GRCm39) F1951I unknown Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Faap24 A T 7: 35,094,527 (GRCm39) I91K possibly damaging Het
Fubp3 T C 2: 31,485,306 (GRCm39) S107P probably damaging Het
Gas2l2 T A 11: 83,313,893 (GRCm39) Q473L probably benign Het
Ghr A T 15: 3,362,873 (GRCm39) Y200N probably damaging Het
Gm4950 G A 18: 51,998,521 (GRCm39) Q145* probably null Het
Gm826 C T 2: 160,153,810 (GRCm39) V78I unknown Het
Gnas G A 2: 174,126,842 (GRCm39) E126K probably damaging Het
Grip2 A T 6: 91,761,689 (GRCm39) V235E probably benign Het
Hmgcl A G 4: 135,681,178 (GRCm39) H88R probably benign Het
Htr7 A G 19: 36,034,283 (GRCm39) V124A probably damaging Het
Igf2r T A 17: 12,933,003 (GRCm39) I840F possibly damaging Het
Ints8 T C 4: 11,204,574 (GRCm39) I961V possibly damaging Het
Jmy A T 13: 93,590,439 (GRCm39) S555T probably benign Het
Klk1b27 G A 7: 43,705,977 (GRCm39) G227S probably damaging Het
Lao1 A C 4: 118,825,382 (GRCm39) T401P probably damaging Het
Mttp C A 3: 137,813,034 (GRCm39) R532L possibly damaging Het
Muc16 T C 9: 18,566,946 (GRCm39) T1858A unknown Het
Myo18a T A 11: 77,733,387 (GRCm39) D1409E probably benign Het
Ncor2 T A 5: 125,126,430 (GRCm39) R554* probably null Het
Or14j6 T A 17: 38,214,718 (GRCm39) Y94N possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,975 (GRCm39) H153L probably benign Het
Or2b11 T C 11: 59,461,835 (GRCm39) T244A probably damaging Het
Or2l13b T A 16: 19,348,855 (GRCm39) I272F possibly damaging Het
Or52b1 A G 7: 104,978,475 (GRCm39) M308T probably benign Het
Prkar2b A G 12: 32,022,147 (GRCm39) Y213H probably damaging Het
Prkd3 T A 17: 79,282,236 (GRCm39) K306* probably null Het
Psd2 A G 18: 36,143,737 (GRCm39) E681G probably benign Het
Sel1l2 T A 2: 140,105,362 (GRCm39) N276I probably damaging Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Smyd1 A G 6: 71,214,359 (GRCm39) V214A probably damaging Het
Spag5 T C 11: 78,195,868 (GRCm39) probably null Het
Trem3 C T 17: 48,556,909 (GRCm39) R127W probably damaging Het
Ttn G A 2: 76,748,425 (GRCm39) T4208I probably benign Het
Tubgcp6 A G 15: 89,004,839 (GRCm39) F260S probably damaging Het
Vmn1r51 A T 6: 90,106,654 (GRCm39) D190V probably benign Het
Zc3h14 A G 12: 98,724,859 (GRCm39) I174V possibly damaging Het
Zfp423 G A 8: 88,509,060 (GRCm39) T428I probably benign Het
Zfp608 T A 18: 55,030,454 (GRCm39) N1162I possibly damaging Het
Zmym5 T C 14: 57,042,255 (GRCm39) M8V 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
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
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'- CTGTAGGGTGCCAACAGTAC -3'
(R):5'- AACGAGGAGGCTGTATTGAC -3'

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