Incidental Mutation 'IGL01090:Wdr83os'
ID 51746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr83os
Ensembl Gene ENSMUSG00000059355
Gene Name WD repeat domain 83 opposite strand
Synonyms BC056474
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.500) question?
Stock # IGL01090
Quality Score
Status
Chromosome 8
Chromosomal Location 85807592-85808968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85808476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 76 (D76V)
Ref Sequence ENSEMBL: ENSMUSP00000117962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000079764] [ENSMUST00000093357] [ENSMUST00000140621] [ENSMUST00000209361] [ENSMUST00000209264] [ENSMUST00000149050] [ENSMUST00000152785]
AlphaFold Q6ZWX0
Predicted Effect probably benign
Transcript: ENSMUST00000034121
SMART Domains Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142

DomainStartEndE-ValueType
low complexity region 40 51 N/A INTRINSIC
Pfam:Glyco_hydro_38 64 381 2.7e-96 PFAM
Alpha-mann_mid 386 465 4.25e-23 SMART
Pfam:Glyco_hydro_38C 510 1002 6.2e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079764
AA Change: D76V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078697
Gene: ENSMUSG00000059355
AA Change: D76V

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
Pfam:UPF0139 85 183 6.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093357
SMART Domains Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150

DomainStartEndE-ValueType
WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
WD40 98 137 8.1e-9 SMART
WD40 142 179 5.52e-2 SMART
WD40 182 219 1.66e0 SMART
WD40 222 263 7e-4 SMART
WD40 266 304 4.75e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135463
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136696
Predicted Effect probably damaging
Transcript: ENSMUST00000140621
AA Change: D76V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117962
Gene: ENSMUSG00000059355
AA Change: D76V

DomainStartEndE-ValueType
Pfam:UPF0139 5 88 1.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209361
Predicted Effect probably benign
Transcript: ENSMUST00000209264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152186
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211379
Predicted Effect probably benign
Transcript: ENSMUST00000149050
SMART Domains Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150

DomainStartEndE-ValueType
WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152785
SMART Domains Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150

DomainStartEndE-ValueType
WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
WD40 140 177 5.52e-2 SMART
WD40 180 217 1.66e0 SMART
WD40 220 261 7e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,896,099 (GRCm39) S316P possibly damaging Het
Actn1 A T 12: 80,245,846 (GRCm39) probably null Het
Agbl3 T C 6: 34,776,822 (GRCm39) Y443H probably benign Het
Akap13 T A 7: 75,316,279 (GRCm39) D578E probably benign Het
Aldoa A T 7: 126,395,207 (GRCm39) H292Q probably benign Het
Als2 T C 1: 59,254,775 (GRCm39) K194R possibly damaging Het
Bivm C A 1: 44,168,451 (GRCm39) H244N probably damaging Het
Cabp5 G A 7: 13,139,412 (GRCm39) E146K probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap251 A C 5: 123,418,052 (GRCm39) probably benign Het
Clcn4 A G 7: 7,297,035 (GRCm39) V129A probably benign Het
Clec4g A G 8: 3,769,482 (GRCm39) S54P probably damaging Het
Crim1 G T 17: 78,654,658 (GRCm39) V645L probably damaging Het
Csta1 T C 16: 35,945,421 (GRCm39) T31A probably damaging Het
D930048N14Rik T C 11: 51,544,610 (GRCm39) probably benign Het
Dhx34 G T 7: 15,950,181 (GRCm39) P329Q probably damaging Het
Dusp16 T C 6: 134,702,912 (GRCm39) N193S probably benign Het
Fbn1 A G 2: 125,236,696 (GRCm39) probably benign Het
Fbxo46 A G 7: 18,870,728 (GRCm39) Y449C probably damaging Het
Fmo4 C A 1: 162,637,354 (GRCm39) probably null Het
Foxi3 C A 6: 70,937,729 (GRCm39) N320K probably damaging Het
Gm9964 A G 11: 79,187,210 (GRCm39) L79P unknown Het
Gpr161 T C 1: 165,134,149 (GRCm39) I137T probably damaging Het
Herc1 C T 9: 66,376,457 (GRCm39) Q3426* probably null Het
Hps5 C T 7: 46,437,751 (GRCm39) R108H probably benign Het
Itch T A 2: 155,048,256 (GRCm39) V540E probably damaging Het
L3mbtl1 C A 2: 162,807,925 (GRCm39) P520H probably damaging Het
Mvp A G 7: 126,588,859 (GRCm39) V636A probably benign Het
Odf4 A G 11: 68,812,778 (GRCm39) probably benign Het
Or7g18 A G 9: 18,787,538 (GRCm39) K305R probably benign Het
Pld1 T C 3: 28,142,816 (GRCm39) S675P probably benign Het
Plod3 A G 5: 137,019,090 (GRCm39) D325G probably benign Het
Prss12 T C 3: 123,276,388 (GRCm39) V339A possibly damaging Het
Ptpn13 T A 5: 103,689,180 (GRCm39) L991Q probably null Het
Ptpn3 T A 4: 57,240,833 (GRCm39) I261F probably damaging Het
Rab3gap1 T C 1: 127,858,124 (GRCm39) probably benign Het
Rasa4 A G 5: 136,130,847 (GRCm39) R373G possibly damaging Het
Rmi1 T C 13: 58,557,208 (GRCm39) S486P probably damaging Het
Slc25a23 A G 17: 57,354,233 (GRCm39) I139T probably benign Het
Sspo T A 6: 48,467,059 (GRCm39) S4017T probably benign Het
Tcaf1 C A 6: 42,663,556 (GRCm39) C108F probably benign Het
Tnc T C 4: 63,918,317 (GRCm39) Q1198R probably damaging Het
Tnni3k G T 3: 154,645,320 (GRCm39) Q522K possibly damaging Het
Trio T A 15: 27,773,093 (GRCm39) E713V probably damaging Het
Ugt2b34 C A 5: 87,041,679 (GRCm39) V338F probably damaging Het
Usp40 T A 1: 87,890,187 (GRCm39) M892L probably benign Het
Usp54 A T 14: 20,636,225 (GRCm39) probably benign Het
Vmn2r53 T C 7: 12,334,835 (GRCm39) E275G possibly damaging Het
Vmn2r87 A G 10: 130,333,247 (GRCm39) M1T probably null Het
Other mutations in Wdr83os
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03178:Wdr83os APN 8 85,807,870 (GRCm39) missense probably damaging 1.00
R4569:Wdr83os UTSW 8 85,808,495 (GRCm39) missense probably damaging 1.00
R4760:Wdr83os UTSW 8 85,808,496 (GRCm39) missense probably damaging 1.00
R4773:Wdr83os UTSW 8 85,807,410 (GRCm39) unclassified probably benign
R9453:Wdr83os UTSW 8 85,808,638 (GRCm39) missense probably damaging 1.00
Z1176:Wdr83os UTSW 8 85,807,843 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21