Incidental Mutation 'R7449:Wdr83'
ID 577568
Institutional Source Beutler Lab
Gene Symbol Wdr83
Ensembl Gene ENSMUSG00000005150
Gene Name WD repeat domain containing 83
Synonyms 1500041N16Rik, Morg1
MMRRC Submission 045524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 85075035-85081306 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85079681 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 136 (W136R)
Ref Sequence ENSEMBL: ENSMUSP00000091048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034121] [ENSMUST00000078665] [ENSMUST00000079764] [ENSMUST00000093357] [ENSMUST00000140621] [ENSMUST00000149050] [ENSMUST00000152785] [ENSMUST00000152871] [ENSMUST00000209264] [ENSMUST00000209361]
AlphaFold Q9DAJ4
Predicted Effect probably benign
Transcript: ENSMUST00000034121
SMART Domains Protein: ENSMUSP00000034121
Gene: ENSMUSG00000005142

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: ENSMUST00000078665
SMART Domains Protein: ENSMUSP00000077733
Gene: ENSMUSG00000060038

low complexity region 5 16 N/A INTRINSIC
Pfam:DS 44 354 7.1e-136 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079764
SMART Domains Protein: ENSMUSP00000078697
Gene: ENSMUSG00000059355

low complexity region 7 21 N/A INTRINSIC
Pfam:UPF0139 85 183 6.8e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093357
AA Change: W136R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091048
Gene: ENSMUSG00000005150
AA Change: W136R

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

Pfam:UPF0139 5 88 1.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142201
Predicted Effect probably benign
Transcript: ENSMUST00000149050
SMART Domains Protein: ENSMUSP00000121568
Gene: ENSMUSG00000005150

WD40 14 53 1.05e-7 SMART
WD40 56 95 8.42e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152785
AA Change: W134R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122127
Gene: ENSMUSG00000005150
AA Change: W134R

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 probably benign
Transcript: ENSMUST00000152871
SMART Domains Protein: ENSMUSP00000120308
Gene: ENSMUSG00000060038

low complexity region 22 33 N/A INTRINSIC
Pfam:DS 59 142 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209264
Predicted Effect probably benign
Transcript: ENSMUST00000209361
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 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.] 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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,435,908 (GRCm38) Y306N possibly damaging Het
Adgrv1 A T 13: 81,499,073 (GRCm38) V3116D probably damaging Het
Adssl1 A T 12: 112,634,151 (GRCm38) T185S probably damaging Het
Ago2 G A 15: 73,146,499 (GRCm38) P30L probably damaging Het
Atp5j C T 16: 84,831,363 (GRCm38) V44M probably benign Het
Atp7b T A 8: 22,011,849 (GRCm38) I833F probably damaging Het
Birc6 T A 17: 74,702,341 (GRCm38) N4869K probably benign Het
Cacna1c C T 6: 118,602,349 (GRCm38) D1796N Het
Ccng2 C G 5: 93,273,343 (GRCm38) S237R probably benign Het
Cnga1 A G 5: 72,605,304 (GRCm38) I289T probably benign Het
Crybg1 C A 10: 44,004,519 (GRCm38) E224D probably benign Het
Dysf T C 6: 84,137,380 (GRCm38) L1217P possibly damaging Het
Ebf2 T A 14: 67,410,020 (GRCm38) N339K probably damaging Het
Eva1c T C 16: 90,876,193 (GRCm38) probably null Het
Fam172a A G 13: 77,759,442 (GRCm38) I41V probably damaging Het
Fam184a T C 10: 53,698,634 (GRCm38) E293G probably damaging Het
Folh1 G A 7: 86,731,748 (GRCm38) P506S probably benign Het
Ftcd A T 10: 76,580,163 (GRCm38) K210N probably benign Het
Gdf6 T A 4: 9,844,494 (GRCm38) V6D possibly damaging Het
Ghitm C A 14: 37,131,581 (GRCm38) G101C probably damaging Het
Gimap5 T A 6: 48,752,904 (GRCm38) V136D probably damaging Het
Gm9745 T A 13: 8,943,304 (GRCm38) H51L probably damaging Het
Grm4 C T 17: 27,435,371 (GRCm38) G535D probably damaging Het
Gse1 T C 8: 120,229,711 (GRCm38) S314P unknown Het
Hnrnpdl A G 5: 100,037,155 (GRCm38) I279T probably damaging Het
Itpr1 T C 6: 108,389,384 (GRCm38) S923P probably damaging Het
Krt39 C A 11: 99,518,061 (GRCm38) C303F probably benign Het
Lrrn1 T C 6: 107,568,521 (GRCm38) S427P possibly damaging Het
Lrrn3 T A 12: 41,453,488 (GRCm38) R277W probably damaging Het
Ltb4r1 T C 14: 55,767,918 (GRCm38) L226P probably damaging Het
Map1b C T 13: 99,508,140 (GRCm38) R85Q probably damaging Het
Mcoln1 T C 8: 3,507,285 (GRCm38) L125P probably damaging Het
Nid1 T G 13: 13,482,051 (GRCm38) V589G probably damaging Het
Nlrp5 T G 7: 23,417,526 (GRCm38) F225C probably benign Het
Notch3 C T 17: 32,157,966 (GRCm38) A322T probably damaging Het
Olfr299 A G 7: 86,465,855 (GRCm38) H148R probably benign Het
Olfr69 G T 7: 103,767,819 (GRCm38) Q193K probably benign Het
Olfr854 T A 9: 19,566,866 (GRCm38) T173S probably benign Het
Otogl A G 10: 107,803,663 (GRCm38) C1363R probably damaging Het
Ovol1 T A 19: 5,553,597 (GRCm38) D92V probably benign Het
Pigt T C 2: 164,502,499 (GRCm38) L356P probably damaging Het
Plekhg3 A G 12: 76,566,222 (GRCm38) Q434R probably damaging Het
Plekhh1 T C 12: 79,079,552 (GRCm38) F1344L probably benign Het
Psmd3 T A 11: 98,695,551 (GRCm38) L515Q probably damaging Het
Pus1 A G 5: 110,774,586 (GRCm38) L405P probably damaging Het
Qtrt2 T A 16: 43,881,032 (GRCm38) H55L probably benign Het
Rasgrp1 T C 2: 117,287,943 (GRCm38) I522V probably damaging Het
Raver2 T A 4: 101,102,663 (GRCm38) H113Q probably damaging Het
Recql4 T C 15: 76,705,565 (GRCm38) D760G unknown Het
Rhobtb3 C T 13: 75,910,741 (GRCm38) V313M probably benign Het
Rhox4d G A X: 37,518,992 (GRCm38) G191E unknown Het
Rictor C T 15: 6,772,154 (GRCm38) S441L probably benign Het
Rnf185 T C 11: 3,426,578 (GRCm38) Q135R probably benign Het
Sema3f T C 9: 107,684,036 (GRCm38) S584G probably damaging Het
Sh3pxd2a T A 19: 47,267,652 (GRCm38) T904S probably benign Het
Slc4a10 T C 2: 62,303,946 (GRCm38) V1002A probably benign Het
Taf1b T C 12: 24,504,993 (GRCm38) I55T probably benign Het
Tenm4 A T 7: 96,874,213 (GRCm38) D1654V possibly damaging Het
Tgfb1 G A 7: 25,704,838 (GRCm38) V357M probably damaging Het
Tnxb C T 17: 34,703,361 (GRCm38) P2383S possibly damaging Het
Trpm1 A T 7: 64,208,975 (GRCm38) M382L probably benign Het
Trrap A G 5: 144,851,209 (GRCm38) Y3516C probably damaging Het
Txnrd1 T A 10: 82,885,233 (GRCm38) Y494* probably null Het
Ubr2 C T 17: 46,964,788 (GRCm38) E811K probably damaging Het
Ubxn4 T A 1: 128,244,543 (GRCm38) F25I possibly damaging Het
Vmn2r117 A G 17: 23,459,895 (GRCm38) M785T probably damaging Het
Vmn2r99 G A 17: 19,379,145 (GRCm38) D364N probably benign Het
Vps45 C A 3: 96,047,136 (GRCm38) probably null Het
Wdr25 A C 12: 109,026,441 (GRCm38) H426P probably damaging Het
Xylt1 A C 7: 117,592,005 (GRCm38) I343L possibly damaging Het
Znrd1as A G 17: 36,964,383 (GRCm38) D16G probably damaging Het
Zscan4b T C 7: 10,904,058 (GRCm38) Q53R possibly damaging Het
Other mutations in Wdr83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Wdr83 APN 8 85,079,814 (GRCm38) missense probably damaging 1.00
IGL01671:Wdr83 APN 8 85,075,819 (GRCm38) unclassified probably benign
IGL02081:Wdr83 APN 8 85,075,843 (GRCm38) missense probably benign 0.08
IGL03293:Wdr83 APN 8 85,080,587 (GRCm38) missense probably benign 0.09
R0062:Wdr83 UTSW 8 85,079,827 (GRCm38) missense possibly damaging 0.67
R0062:Wdr83 UTSW 8 85,079,827 (GRCm38) missense possibly damaging 0.67
R3729:Wdr83 UTSW 8 85,080,339 (GRCm38) missense probably damaging 1.00
R4664:Wdr83 UTSW 8 85,080,051 (GRCm38) unclassified probably benign
R4758:Wdr83 UTSW 8 85,075,238 (GRCm38) missense probably benign 0.25
R5456:Wdr83 UTSW 8 85,080,208 (GRCm38) missense probably benign 0.00
R6687:Wdr83 UTSW 8 85,080,149 (GRCm38) missense probably benign 0.00
R7078:Wdr83 UTSW 8 85,076,051 (GRCm38) missense probably damaging 1.00
R7172:Wdr83 UTSW 8 85,079,824 (GRCm38) missense probably damaging 0.98
R7311:Wdr83 UTSW 8 85,076,261 (GRCm38) missense probably benign 0.21
R7349:Wdr83 UTSW 8 85,079,831 (GRCm38) missense possibly damaging 0.59
R7570:Wdr83 UTSW 8 85,079,834 (GRCm38) missense probably damaging 1.00
R9157:Wdr83 UTSW 8 85,079,803 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-07