Incidental Mutation 'IGL01399:Wdr53'
ID 79566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr53
Ensembl Gene ENSMUSG00000022787
Gene Name WD repeat domain 53
Synonyms 1500002B03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL01399
Quality Score
Status
Chromosome 16
Chromosomal Location 32066047-32075901 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32070718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 21 (D21G)
Ref Sequence ENSEMBL: ENSMUSP00000135908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023474] [ENSMUST00000042732] [ENSMUST00000135289] [ENSMUST00000141820] [ENSMUST00000178573]
AlphaFold Q9DB94
Predicted Effect possibly damaging
Transcript: ENSMUST00000023474
AA Change: D21G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023474
Gene: ENSMUSG00000022787
AA Change: D21G

DomainStartEndE-ValueType
WD40 1 37 1.14e2 SMART
WD40 83 122 9.94e-1 SMART
WD40 125 165 3.09e-5 SMART
WD40 188 225 1.65e1 SMART
WD40 228 269 1.86e-8 SMART
Blast:WD40 314 354 4e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000042732
SMART Domains Protein: ENSMUSP00000040168
Gene: ENSMUSG00000035764

DomainStartEndE-ValueType
low complexity region 2 37 N/A INTRINSIC
FBOX 39 82 4e-4 SMART
SPRY 152 284 1.87e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135289
AA Change: D21G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000141820
AA Change: D21G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000178573
AA Change: D21G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135908
Gene: ENSMUSG00000022787
AA Change: D21G

DomainStartEndE-ValueType
WD40 1 37 1.14e2 SMART
WD40 83 122 9.94e-1 SMART
WD40 125 165 3.09e-5 SMART
WD40 188 225 1.65e1 SMART
WD40 228 269 1.86e-8 SMART
Blast:WD40 314 354 4e-11 BLAST
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 protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Asic4 T A 1: 75,445,790 (GRCm39) N206K possibly damaging Het
Bsn A G 9: 107,984,386 (GRCm39) Y3223H unknown Het
Btaf1 C T 19: 36,977,570 (GRCm39) R1463* probably null Het
Ccdc146 A G 5: 21,499,611 (GRCm39) I857T possibly damaging Het
Ccnf G A 17: 24,443,986 (GRCm39) S594L probably damaging Het
Chd5 T C 4: 152,441,144 (GRCm39) W195R probably damaging Het
Cntn1 A G 15: 92,203,025 (GRCm39) Y769C probably damaging Het
Cwc22 T C 2: 77,747,408 (GRCm39) E435G probably benign Het
Dct A G 14: 118,273,890 (GRCm39) F339S probably damaging Het
Ddx54 G T 5: 120,761,968 (GRCm39) E554* probably null Het
Dock3 G T 9: 106,870,670 (GRCm39) S581R probably benign Het
Dst A G 1: 34,156,598 (GRCm39) H176R probably benign Het
Emc8 A G 8: 121,385,745 (GRCm39) M123T probably damaging Het
Evc T A 5: 37,490,357 (GRCm39) D55V probably damaging Het
Gm5424 A G 10: 61,907,272 (GRCm39) noncoding transcript Het
Gpr149 A T 3: 62,511,852 (GRCm39) L49Q probably damaging Het
Hcfc1 C T X: 72,993,515 (GRCm39) V1217I possibly damaging Het
Hoxa4 G T 6: 52,167,393 (GRCm39) Q263K probably damaging Het
Ift172 T C 5: 31,423,592 (GRCm39) E790G probably benign Het
Ipp A G 4: 116,372,384 (GRCm39) N138D probably damaging Het
Isg20 A T 7: 78,569,836 (GRCm39) T158S possibly damaging Het
Klf17 A G 4: 117,616,356 (GRCm39) F325S probably damaging Het
Lilrb4a T C 10: 51,370,161 (GRCm39) L233P probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Myh9 A T 15: 77,651,470 (GRCm39) L1544Q probably damaging Het
Nexmif T A X: 103,130,786 (GRCm39) D377V probably damaging Het
Nobox T C 6: 43,280,972 (GRCm39) T501A probably benign Het
Noc3l T C 19: 38,804,099 (GRCm39) D93G possibly damaging Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nup205 T C 6: 35,196,624 (GRCm39) I1120T possibly damaging Het
Or5b96 A T 19: 12,867,803 (GRCm39) M46K probably benign Het
Or5h18 C T 16: 58,847,629 (GRCm39) V214I probably benign Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Selenof C T 3: 144,302,669 (GRCm39) T148I probably damaging Het
Sgce C A 6: 4,746,997 (GRCm39) G31V probably damaging Het
Slc35e1 C A 8: 73,238,534 (GRCm39) A325S probably damaging Het
Slc4a4 A G 5: 89,376,794 (GRCm39) D1016G probably damaging Het
Synj2 T G 17: 6,060,046 (GRCm39) C149W probably damaging Het
Tecpr1 A G 5: 144,145,411 (GRCm39) probably null Het
Utp20 A G 10: 88,594,164 (GRCm39) probably null Het
Vmn2r63 T A 7: 42,553,543 (GRCm39) K571M probably damaging Het
Zbtb3 T C 19: 8,780,819 (GRCm39) L144S probably damaging Het
Zfp185 T A X: 72,043,654 (GRCm39) S154T probably damaging Het
Other mutations in Wdr53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Wdr53 APN 16 32,075,315 (GRCm39) nonsense probably null
R0041:Wdr53 UTSW 16 32,075,473 (GRCm39) missense probably damaging 1.00
R0582:Wdr53 UTSW 16 32,070,726 (GRCm39) missense probably damaging 0.96
R1750:Wdr53 UTSW 16 32,070,935 (GRCm39) missense probably damaging 1.00
R1883:Wdr53 UTSW 16 32,075,316 (GRCm39) missense possibly damaging 0.93
R2428:Wdr53 UTSW 16 32,071,008 (GRCm39) missense probably benign 0.19
R3726:Wdr53 UTSW 16 32,075,538 (GRCm39) missense probably benign 0.01
R4495:Wdr53 UTSW 16 32,070,969 (GRCm39) missense probably benign 0.04
R4883:Wdr53 UTSW 16 32,075,796 (GRCm39) nonsense probably null
R4884:Wdr53 UTSW 16 32,075,796 (GRCm39) nonsense probably null
R4905:Wdr53 UTSW 16 32,075,476 (GRCm39) missense probably benign 0.03
R6031:Wdr53 UTSW 16 32,075,536 (GRCm39) missense probably damaging 1.00
R6031:Wdr53 UTSW 16 32,075,536 (GRCm39) missense probably damaging 1.00
R6222:Wdr53 UTSW 16 32,075,482 (GRCm39) missense probably benign 0.01
R8903:Wdr53 UTSW 16 32,071,130 (GRCm39) missense probably damaging 1.00
R8954:Wdr53 UTSW 16 32,075,473 (GRCm39) missense probably damaging 1.00
R9013:Wdr53 UTSW 16 32,075,413 (GRCm39) missense probably damaging 0.98
R9587:Wdr53 UTSW 16 32,075,830 (GRCm39) missense probably damaging 1.00
Z1088:Wdr53 UTSW 16 32,071,116 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05