Incidental Mutation 'IGL00722:Wdr44'
ID14839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr44
Ensembl Gene ENSMUSG00000036769
Gene NameWD repeat domain 44
SynonymsRAB11BP, 2610034K17Rik, DKFZp686L20145, RPH11
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.594) question?
Stock #IGL00722
Quality Score
Status
ChromosomeX
Chromosomal Location23693051-23806025 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 23732309 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035766] [ENSMUST00000101670] [ENSMUST00000149483]
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: 30,897,793 D82G probably damaging Het
Alpk1 A G 3: 127,680,213 S714P probably benign Het
Atp11b T C 3: 35,819,935 I491T probably damaging Het
Frg2f1 C T 4: 119,531,110 R64K possibly damaging Het
Hibch T C 1: 52,901,320 V216A probably damaging Het
Mttp C A 3: 138,109,015 V500F possibly damaging Het
Osbpl9 T C 4: 109,072,010 I397V probably damaging Het
Rpusd4 T A 9: 35,268,418 V69D possibly damaging Het
Setd2 T C 9: 110,551,136 S1340P possibly damaging Het
Stk17b T C 1: 53,764,140 S167G probably damaging Het
Strn T C 17: 78,692,420 D129G possibly damaging Het
Zfp558 G T 9: 18,456,521 P324T probably damaging Het
Other mutations in Wdr44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Wdr44 APN X 23800544 missense possibly damaging 0.47
R1394:Wdr44 UTSW X 23796059 missense probably damaging 1.00
R1395:Wdr44 UTSW X 23796059 missense probably damaging 1.00
Posted On2012-12-06