Incidental Mutation 'IGL01112:Wdr55'
ID53185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr55
Ensembl Gene ENSMUSG00000042660
Gene NameWD repeat domain 55
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01112
Quality Score
Status
Chromosome18
Chromosomal Location36760239-36763708 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 36762079 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001416] [ENSMUST00000007042] [ENSMUST00000049323] [ENSMUST00000061522]
Predicted Effect probably benign
Transcript: ENSMUST00000001416
SMART Domains Protein: ENSMUSP00000001416
Gene: ENSMUSG00000001380

DomainStartEndE-ValueType
WHEP-TRS 7 60 5.37e-11 SMART
Pfam:tRNA-synt_His 61 389 1.9e-41 PFAM
Pfam:HGTP_anticodon2 404 507 3.3e-12 PFAM
Pfam:HGTP_anticodon 410 501 4.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000007042
SMART Domains Protein: ENSMUSP00000007042
Gene: ENSMUSG00000024474

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
Pfam:RED_N 76 302 1.6e-105 PFAM
low complexity region 334 380 N/A INTRINSIC
Pfam:RED_C 445 554 1.1e-52 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000049323
SMART Domains Protein: ENSMUSP00000039010
Gene: ENSMUSG00000042660

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
WD40 31 67 4.6e0 SMART
WD40 74 113 1.12e-2 SMART
WD40 116 155 2.4e-2 SMART
WD40 158 197 2.76e-2 SMART
WD40 202 239 1.72e0 SMART
WD40 284 324 2.01e-4 SMART
low complexity region 380 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061522
SMART Domains Protein: ENSMUSP00000054412
Gene: ENSMUSG00000044595

DomainStartEndE-ValueType
low complexity region 43 58 N/A INTRINSIC
RRM 59 132 2.49e-10 SMART
RRM 139 214 3.01e-1 SMART
Pfam:DND1_DSRM 253 333 1.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224284
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,637,145 I401V possibly damaging Het
Ap2a2 A T 7: 141,605,019 probably benign Het
Apol7c T A 15: 77,526,437 D103V probably damaging Het
Arid4a T C 12: 71,072,733 probably null Het
Atp2a1 A G 7: 126,450,307 V521A probably benign Het
Ccdc88c G T 12: 100,916,803 D1603E probably benign Het
Clec4f T C 6: 83,653,200 I125M probably benign Het
Dsc1 T C 18: 20,094,622 I520V probably benign Het
Eomes G A 9: 118,482,266 A386T probably damaging Het
Gldc C T 19: 30,158,513 probably null Het
Hectd4 G T 5: 121,306,950 M1420I probably benign Het
Hmcn1 A T 1: 150,632,552 probably benign Het
Ighv6-3 G A 12: 114,391,715 T118I possibly damaging Het
Krt82 A G 15: 101,545,523 F250S probably damaging Het
Ltb A G 17: 35,194,600 T27A probably benign Het
Mex3b T A 7: 82,869,703 S409T probably benign Het
Mki67 A T 7: 135,714,016 I39N probably damaging Het
Olfr576 A G 7: 102,966,028 probably benign Het
Palmd A G 3: 116,924,273 S192P probably damaging Het
Pcdh20 A T 14: 88,467,200 M888K probably benign Het
Pclo A T 5: 14,681,069 H3195L unknown Het
Pgm1 A T 5: 64,102,882 I137F possibly damaging Het
Polq T A 16: 37,017,309 N194K probably damaging Het
Rmnd1 T C 10: 4,410,793 probably null Het
Rnf114 T C 2: 167,512,539 M180T probably damaging Het
Sap30 A G 8: 57,485,089 F165L possibly damaging Het
Scgb3a2 T A 18: 43,766,994 probably benign Het
Sftpa1 A T 14: 41,132,570 N38I probably benign Het
Sumf1 A G 6: 108,176,016 F137S probably damaging Het
Tln2 C A 9: 67,311,811 R284L probably damaging Het
Ttn T A 2: 76,710,464 R25732S probably damaging Het
Ttn C T 2: 76,740,359 R26730Q probably damaging Het
Tubgcp4 T C 2: 121,173,601 V41A probably benign Het
Usp53 T A 3: 122,957,718 Q230L probably damaging Het
Vmn2r57 T C 7: 41,425,043 E532G probably damaging Het
Vps9d1 G T 8: 123,246,030 N454K probably damaging Het
Zfp263 T A 16: 3,748,912 C76S probably benign Het
Other mutations in Wdr55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02720:Wdr55 APN 18 36763382 missense probably benign 0.12
IGL02723:Wdr55 APN 18 36763382 missense probably benign 0.12
IGL02726:Wdr55 APN 18 36763382 missense probably benign 0.12
IGL02728:Wdr55 APN 18 36763382 missense probably benign 0.12
IGL02729:Wdr55 APN 18 36763382 missense probably benign 0.12
IGL02731:Wdr55 APN 18 36763382 missense probably benign 0.12
R1420:Wdr55 UTSW 18 36760339 missense probably benign 0.00
R1952:Wdr55 UTSW 18 36760384 missense probably damaging 1.00
R2143:Wdr55 UTSW 18 36762366 missense possibly damaging 0.95
R2144:Wdr55 UTSW 18 36762366 missense possibly damaging 0.95
R4323:Wdr55 UTSW 18 36763100 missense probably benign 0.00
R4497:Wdr55 UTSW 18 36760395 missense possibly damaging 0.85
R4937:Wdr55 UTSW 18 36762398 missense probably benign 0.00
R5662:Wdr55 UTSW 18 36760395 missense possibly damaging 0.85
R6315:Wdr55 UTSW 18 36762069 missense probably damaging 1.00
R6499:Wdr55 UTSW 18 36762178 missense probably benign 0.00
R6679:Wdr55 UTSW 18 36763124 missense probably damaging 1.00
R7038:Wdr55 UTSW 18 36760420 missense probably damaging 1.00
R7151:Wdr55 UTSW 18 36762936 missense possibly damaging 0.48
R7687:Wdr55 UTSW 18 36762023 missense probably damaging 1.00
R7808:Wdr55 UTSW 18 36760416 missense probably benign 0.04
Posted On2013-06-21