Incidental Mutation 'IGL00722:Wdr44'
ID 14839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr44
Ensembl Gene ENSMUSG00000036769
Gene Name WD repeat domain 44
Synonyms RAB11BP, DKFZp686L20145, RPH11, 2610034K17Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.594) question?
Stock # IGL00722
Quality Score
Status
Chromosome X
Chromosomal Location 23559290-23672264 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 23598548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035766] [ENSMUST00000101670] [ENSMUST00000149483]
AlphaFold Q6NVE8
Predicted Effect probably benign
Transcript: ENSMUST00000035766
SMART Domains Protein: ENSMUSP00000044616
Gene: ENSMUSG00000036769

DomainStartEndE-ValueType
low complexity region 60 73 N/A INTRINSIC
coiled coil region 114 139 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 231 263 N/A INTRINSIC
low complexity region 423 432 N/A INTRINSIC
WD40 501 541 1.93e-6 SMART
low complexity region 563 576 N/A INTRINSIC
WD40 598 636 8.42e-7 SMART
WD40 639 678 9.3e-9 SMART
WD40 680 722 8.29e-1 SMART
WD40 730 772 8.56e0 SMART
WD40 775 816 2.49e-1 SMART
Blast:WD40 831 908 2e-34 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000101670
SMART Domains Protein: ENSMUSP00000099193
Gene: ENSMUSG00000036769

DomainStartEndE-ValueType
low complexity region 60 73 N/A INTRINSIC
coiled coil region 114 139 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 231 263 N/A INTRINSIC
low complexity region 423 432 N/A INTRINSIC
WD40 501 541 1.93e-6 SMART
low complexity region 563 576 N/A INTRINSIC
WD40 598 636 8.42e-7 SMART
WD40 639 678 9.3e-9 SMART
WD40 680 722 8.29e-1 SMART
WD40 730 772 8.56e0 SMART
WD40 775 816 2.49e-1 SMART
Blast:WD40 831 908 2e-34 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142600
Predicted Effect probably benign
Transcript: ENSMUST00000149483
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein containing multiple WD repeats. The encoded protein may play a role in vesicle trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 T C 12: 30,947,792 (GRCm39) D82G probably damaging Het
Alpk1 A G 3: 127,473,862 (GRCm39) S714P probably benign Het
Atp11b T C 3: 35,874,084 (GRCm39) I491T probably damaging Het
Frg2f1 C T 4: 119,388,307 (GRCm39) R64K possibly damaging Het
Hibch T C 1: 52,940,479 (GRCm39) V216A probably damaging Het
Mttp C A 3: 137,814,776 (GRCm39) V500F possibly damaging Het
Osbpl9 T C 4: 108,929,207 (GRCm39) I397V probably damaging Het
Rpusd4 T A 9: 35,179,714 (GRCm39) V69D possibly damaging Het
Setd2 T C 9: 110,380,204 (GRCm39) S1340P possibly damaging Het
Stk17b T C 1: 53,803,299 (GRCm39) S167G probably damaging Het
Strn T C 17: 78,999,849 (GRCm39) D129G possibly damaging Het
Zfp558 G T 9: 18,367,817 (GRCm39) P324T probably damaging Het
Other mutations in Wdr44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Wdr44 APN X 23,666,783 (GRCm39) missense possibly damaging 0.47
R1394:Wdr44 UTSW X 23,662,298 (GRCm39) missense probably damaging 1.00
R1395:Wdr44 UTSW X 23,662,298 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06