Incidental Mutation 'IGL03293:Wdr83'
ID 415982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr83
Ensembl Gene ENSMUSG00000005150
Gene Name WD repeat domain containing 83
Synonyms Morg1, 1500041N16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03293
Quality Score
Status
Chromosome 8
Chromosomal Location 85801664-85807375 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85807216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 10 (A10E)
Ref Sequence ENSEMBL: ENSMUSP00000122127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000079764] [ENSMUST00000093357] [ENSMUST00000140621] [ENSMUST00000149050] [ENSMUST00000152785] [ENSMUST00000209264] [ENSMUST00000209361]
AlphaFold Q9DAJ4
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 benign
Transcript: ENSMUST00000079764
SMART Domains Protein: ENSMUSP00000078697
Gene: ENSMUSG00000059355

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
Pfam:UPF0139 85 183 6.8e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093357
AA Change: A10E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150
AA Change: A10E

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 benign
Transcript: ENSMUST00000140621
SMART Domains Protein: ENSMUSP00000117962
Gene: ENSMUSG00000059355

DomainStartEndE-ValueType
Pfam:UPF0139 5 88 1.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149050
AA Change: A10E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150
AA Change: A10E

DomainStartEndE-ValueType
WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152785
AA Change: A10E

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150
AA Change: A10E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152186
Predicted Effect probably benign
Transcript: ENSMUST00000209264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145880
Predicted Effect probably benign
Transcript: ENSMUST00000209361
Predicted Effect probably benign
Transcript: ENSMUST00000142201
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a reporter allele exhibit embryonic lethality at E10.5 due to diffuse vascularization and placental insufficiency. Mice heterozygous for the same reporter allele exhibit decreased susceptibility to kidney reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,615,375 (GRCm39) probably null Het
Akr1c14 C T 13: 4,129,130 (GRCm39) R45* probably null Het
Ccdc62 T A 5: 124,089,288 (GRCm39) L309I possibly damaging Het
Ccdc66 T A 14: 27,212,628 (GRCm39) N565I probably damaging Het
Cerkl G T 2: 79,172,719 (GRCm39) A318E probably damaging Het
Clec4n A T 6: 123,209,105 (GRCm39) T57S probably benign Het
Cluh A G 11: 74,556,578 (GRCm39) E921G probably benign Het
Cnbd1 C T 4: 18,860,565 (GRCm39) E394K possibly damaging Het
Dmgdh G T 13: 93,843,209 (GRCm39) M348I probably benign Het
Dnajc13 G A 9: 104,051,625 (GRCm39) S1744L possibly damaging Het
Dspp A T 5: 104,325,427 (GRCm39) S597C unknown Het
Dync1h1 A T 12: 110,595,168 (GRCm39) N1360I probably benign Het
Eepd1 A G 9: 25,514,708 (GRCm39) H505R possibly damaging Het
Entr1 A T 2: 26,277,688 (GRCm39) probably benign Het
Gcnt7 T C 2: 172,296,303 (GRCm39) T174A possibly damaging Het
Gnb1 T C 4: 155,625,004 (GRCm39) probably benign Het
Gpam A G 19: 55,059,448 (GRCm39) S800P probably benign Het
Gsr T C 8: 34,185,024 (GRCm39) probably benign Het
Herc2 A G 7: 55,804,878 (GRCm39) K2302R probably benign Het
Hipk1 C A 3: 103,684,575 (GRCm39) A347S possibly damaging Het
Iqgap2 T C 13: 95,867,942 (GRCm39) N222S probably damaging Het
Marco T A 1: 120,422,524 (GRCm39) M46L probably benign Het
Morc2b A T 17: 33,357,337 (GRCm39) V145D probably damaging Het
Mprip C A 11: 59,586,989 (GRCm39) P54Q probably damaging Het
Ndufv2 A T 17: 66,390,444 (GRCm39) C175* probably null Het
Or13c25 A G 4: 52,910,835 (GRCm39) *320Q probably null Het
Or4p20 T C 2: 88,253,571 (GRCm39) D266G probably damaging Het
Orc3 A C 4: 34,595,210 (GRCm39) I195S probably damaging Het
Otos C A 1: 92,572,135 (GRCm39) E64* probably null Het
Plxna2 T C 1: 194,487,253 (GRCm39) S1603P probably damaging Het
Rlf A T 4: 121,005,527 (GRCm39) I1151N probably benign Het
Scaper A G 9: 55,782,107 (GRCm39) V283A probably benign Het
Slc25a43 A G X: 36,039,252 (GRCm39) T270A probably benign Het
Slc35a5 A G 16: 44,964,144 (GRCm39) V78A probably damaging Het
Smurf1 A T 5: 144,818,609 (GRCm39) D636E probably benign Het
Tchhl1 A T 3: 93,377,582 (GRCm39) E95D probably damaging Het
Tcp10a A G 17: 7,593,891 (GRCm39) E72G possibly damaging Het
Tmem232 A G 17: 65,757,369 (GRCm39) S275P probably damaging Het
Ugt1a5 T C 1: 88,094,540 (GRCm39) F256S probably damaging Het
Ulbp3 A G 10: 3,075,699 (GRCm39) noncoding transcript Het
Vmn2r5 A G 3: 64,398,747 (GRCm39) V744A probably benign Het
Vmn2r53 A T 7: 12,332,349 (GRCm39) S433R probably benign Het
Vmn2r9 A T 5: 108,995,997 (GRCm39) I217N probably damaging Het
Other mutations in Wdr83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Wdr83 APN 8 85,806,443 (GRCm39) missense probably damaging 1.00
IGL01671:Wdr83 APN 8 85,802,448 (GRCm39) unclassified probably benign
IGL02081:Wdr83 APN 8 85,802,472 (GRCm39) missense probably benign 0.08
R0062:Wdr83 UTSW 8 85,806,456 (GRCm39) missense possibly damaging 0.67
R0062:Wdr83 UTSW 8 85,806,456 (GRCm39) missense possibly damaging 0.67
R3729:Wdr83 UTSW 8 85,806,968 (GRCm39) missense probably damaging 1.00
R4664:Wdr83 UTSW 8 85,806,680 (GRCm39) unclassified probably benign
R4758:Wdr83 UTSW 8 85,801,867 (GRCm39) missense probably benign 0.25
R5456:Wdr83 UTSW 8 85,806,837 (GRCm39) missense probably benign 0.00
R6687:Wdr83 UTSW 8 85,806,778 (GRCm39) missense probably benign 0.00
R7078:Wdr83 UTSW 8 85,802,680 (GRCm39) missense probably damaging 1.00
R7172:Wdr83 UTSW 8 85,806,453 (GRCm39) missense probably damaging 0.98
R7311:Wdr83 UTSW 8 85,802,890 (GRCm39) missense probably benign 0.21
R7349:Wdr83 UTSW 8 85,806,460 (GRCm39) missense possibly damaging 0.59
R7449:Wdr83 UTSW 8 85,806,310 (GRCm39) missense probably damaging 1.00
R7570:Wdr83 UTSW 8 85,806,463 (GRCm39) missense probably damaging 1.00
R9157:Wdr83 UTSW 8 85,806,432 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02