Incidental Mutation 'R5304:Lrwd1'
ID 404419
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 042887-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.862) question?
Stock # R5304 (G1)
Quality Score 94
Status Validated
Chromosome 5
Chromosomal Location 136151920-136164928 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 136160004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 353 (T353K)
Ref Sequence ENSEMBL: ENSMUSP00000006301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006301] [ENSMUST00000136634] [ENSMUST00000150406]
AlphaFold Q8BUI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000006301
AA Change: T353K

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006301
Gene: ENSMUSG00000029703
AA Change: T353K

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: 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 noncoding transcript
Transcript: ENSMUST00000139908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149673
Predicted Effect probably benign
Transcript: ENSMUST00000150406
SMART Domains Protein: ENSMUSP00000121513
Gene: ENSMUSG00000029703

DomainStartEndE-ValueType
LRR_TYP 55 78 3.16e-3 SMART
LRR 99 122 1.58e2 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (87/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 C T 11: 7,014,198 (GRCm39) A200V probably benign Het
Adgrv1 T C 13: 81,726,372 (GRCm39) D551G possibly damaging Het
Aldh3a2 A G 11: 61,144,538 (GRCm39) V340A probably damaging Het
Amy1 C A 3: 113,352,013 (GRCm39) C393F probably damaging Het
Ankrd16 T C 2: 11,794,545 (GRCm39) V310A probably benign Het
Arhgef15 T C 11: 68,838,063 (GRCm39) S686G probably null Het
Arid4b T A 13: 14,361,514 (GRCm39) N659K probably benign Het
Asz1 C T 6: 18,076,619 (GRCm39) R191Q probably benign Het
Atp2a3 A G 11: 72,879,383 (GRCm39) I947V probably damaging Het
AW011738 G A 4: 156,287,969 (GRCm39) probably benign Het
Bfsp1 G T 2: 143,669,211 (GRCm39) T456K probably benign Het
Cdc25c T C 18: 34,883,864 (GRCm39) T40A possibly damaging Het
Cdh20 G A 1: 110,036,569 (GRCm39) C583Y probably damaging Het
Ceacam23 A C 7: 17,636,617 (GRCm39) E231D probably benign Het
Cfap54 A T 10: 92,656,968 (GRCm39) L3028Q probably damaging Het
Chd1 A G 17: 15,975,213 (GRCm39) S1088G probably benign Het
Chd1 A T 17: 15,990,530 (GRCm39) H1694L possibly damaging Het
Cstf3 G T 2: 104,493,735 (GRCm39) E580* probably null Het
Dip2a A T 10: 76,130,357 (GRCm39) M622K possibly damaging Het
Dlgap1 A T 17: 71,122,202 (GRCm39) H877L probably damaging Het
Egfr G T 11: 16,834,260 (GRCm39) M122I probably benign Het
Etfbkmt T A 6: 149,048,704 (GRCm39) D114E probably damaging Het
Eva1c T C 16: 90,666,551 (GRCm39) L158P probably damaging Het
Exo1 G A 1: 175,720,542 (GRCm39) V287M probably damaging Het
Fam171a1 T C 2: 3,226,654 (GRCm39) Y471H probably damaging Het
Fermt1 T A 2: 132,783,986 (GRCm39) T8S probably benign Het
Fgfr2 G T 7: 129,769,504 (GRCm39) P630T probably damaging Het
Fmo5 G A 3: 97,558,938 (GRCm39) G466E probably damaging Het
Hcn4 A G 9: 58,751,215 (GRCm39) I280M probably benign Het
Ifi208 A C 1: 173,511,174 (GRCm39) K443T probably benign Het
Irs3 A G 5: 137,643,003 (GRCm39) F145S probably benign Het
Kirrel1 T A 3: 86,996,902 (GRCm39) H300L probably benign Het
Krit1 A G 5: 3,869,326 (GRCm39) Q340R probably damaging Het
Lipo5 T C 19: 33,445,149 (GRCm39) D140G unknown Het
Lrrtm4 A T 6: 79,999,683 (GRCm39) Q365L probably benign Het
Lsm14a A T 7: 34,053,154 (GRCm39) S240R possibly damaging Het
Map3k5 A G 10: 19,983,984 (GRCm39) I870V probably benign Het
Matcap2 A T 9: 22,335,528 (GRCm39) T49S probably benign Het
Mmp17 A T 5: 129,671,678 (GRCm39) E76V probably null Het
Mphosph10 A G 7: 64,038,732 (GRCm39) F272L probably damaging Het
Mtcl2 G A 2: 156,865,737 (GRCm39) Q1127* probably null Het
Myh10 A G 11: 68,655,071 (GRCm39) K380R probably damaging Het
Myo3b C T 2: 70,257,232 (GRCm39) P1282L probably damaging Het
Nemp2 T C 1: 52,682,238 (GRCm39) probably benign Het
Ola1 T C 2: 73,029,778 (GRCm39) I114V probably damaging Het
Or4c3d T A 2: 89,882,257 (GRCm39) H137L probably benign Het
Or8k28 T A 2: 86,285,779 (GRCm39) T279S probably damaging Het
Pabpc4 T G 4: 123,184,100 (GRCm39) D204E probably benign Het
Pigr A T 1: 130,777,230 (GRCm39) M679L probably benign Het
Pik3c2b A T 1: 132,998,146 (GRCm39) M341L possibly damaging Het
Plin4 T A 17: 56,413,132 (GRCm39) T498S probably benign Het
Ppp2r5e A G 12: 75,562,459 (GRCm39) S15P possibly damaging Het
Prdm13 T C 4: 21,678,984 (GRCm39) Y502C probably damaging Het
Ptprk T C 10: 28,468,050 (GRCm39) probably null Het
Rapgef6 T C 11: 54,548,200 (GRCm39) S505P probably benign Het
Rgmb G T 17: 16,040,990 (GRCm39) S199* probably null Het
Rgsl1 T C 1: 153,703,238 (GRCm39) T173A probably damaging Het
Rhobtb1 G T 10: 69,105,742 (GRCm39) K102N probably damaging Het
Ripor2 A T 13: 24,858,649 (GRCm39) D147V probably damaging Het
Rsad2 A T 12: 26,500,681 (GRCm39) V202E probably damaging Het
Slc1a6 A G 10: 78,629,141 (GRCm39) N186S probably damaging Het
Sorbs3 G A 14: 70,422,345 (GRCm39) R622* probably null Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Srgap3 T C 6: 112,743,900 (GRCm39) Y446C probably damaging Het
Thsd7b C T 1: 129,605,980 (GRCm39) R574* probably null Het
Tmem74 A T 15: 43,730,217 (GRCm39) Y275* probably null Het
Topors A T 4: 40,262,541 (GRCm39) S248T possibly damaging Het
Trpm1 A T 7: 63,858,694 (GRCm39) Y239F probably benign Het
Ttn T A 2: 76,548,527 (GRCm39) Y30179F possibly damaging Het
Ugt2b34 A T 5: 87,040,724 (GRCm39) F399L probably damaging Het
Ush2a A T 1: 188,088,995 (GRCm39) I317F probably damaging Het
Usp1 T C 4: 98,822,855 (GRCm39) V723A probably benign Het
Usp34 T G 11: 23,293,616 (GRCm39) L237V probably damaging Het
Vgf A T 5: 137,061,140 (GRCm39) D434V probably damaging Het
Vmn1r179 A G 7: 23,628,100 (GRCm39) N97S probably benign Het
Vps13a A G 19: 16,687,751 (GRCm39) L899P possibly damaging Het
Vps33b A T 7: 79,924,001 (GRCm39) I41F probably damaging Het
Zap70 A T 1: 36,817,299 (GRCm39) H210L probably damaging Het
Zc3h8 T C 2: 128,770,835 (GRCm39) D300G probably benign Het
Zfp958 C A 8: 4,676,196 (GRCm39) H55N possibly 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
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
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'- AAGAGGTGAGTCTCATGGCTG -3'
(R):5'- AACTATTTTGGTGGGGATAGGACC -3'

Sequencing Primer
(F):5'- CTCATGGCTGGGGCTGAAG -3'
(R):5'- GCTTCTCTGTGTTCCAGA -3'
Posted On 2016-07-22