Incidental Mutation 'IGL00508:Wdr44'
ID3139
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 #IGL00508
Quality Score
Status
ChromosomeX
Chromosomal Location23693051-23806025 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23800544 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 719 (I719V)
Ref Sequence ENSEMBL: ENSMUSP00000099193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035766] [ENSMUST00000101670]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035766
AA Change: I719V

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044616
Gene: ENSMUSG00000036769
AA Change: I719V

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 possibly damaging
Transcript: ENSMUST00000101670
AA Change: I719V

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099193
Gene: ENSMUSG00000036769
AA Change: I719V

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A C 13: 81,506,187 D2188E probably damaging Het
Atrx A G X: 105,823,799 S2026P probably damaging Het
Cacna1b A C 2: 24,657,289 probably null Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cfap57 C T 4: 118,581,170 probably null Het
Ckap5 T G 2: 91,606,256 V1567G probably damaging Het
Cyp2c38 A T 19: 39,460,725 Y61* probably null Het
D130052B06Rik A G 11: 33,599,402 E7G unknown Het
Dhx38 A G 8: 109,556,934 L527P possibly damaging Het
Dnaaf5 A G 5: 139,177,946 N653D probably benign Het
Dnah8 T G 17: 30,855,930 M4541R probably damaging Het
Dpyd A T 3: 119,064,987 T617S probably benign Het
Fpr2 A T 17: 17,892,772 N10I probably damaging Het
Frmd4a A T 2: 4,594,734 K524* probably null Het
Gpr45 C T 1: 43,032,292 P32S possibly damaging Het
H2-Eb2 A T 17: 34,334,367 I176F probably damaging Het
Hcrtr1 T A 4: 130,137,269 N74I probably damaging Het
Ifi47 C T 11: 49,095,414 Q3* probably null Het
Krt8 T A 15: 101,998,025 M350L probably benign Het
Lilra6 A G 7: 3,911,554 S533P probably benign Het
Map1b A T 13: 99,429,233 S2327T unknown Het
Mcoln3 T A 3: 146,133,928 I345N probably damaging Het
Mettl3 C A 14: 52,294,979 probably benign Het
Mgat4a G A 1: 37,449,123 R472* probably null Het
Micall1 A G 15: 79,130,568 K715E probably damaging Het
Pak1 G T 7: 97,854,568 G37C probably benign Het
Pomt2 T G 12: 87,119,627 H426P probably damaging Het
Pou2f3 G A 9: 43,139,963 P155S probably benign Het
Psg25 A G 7: 18,529,731 Y56H probably benign Het
Rab9 G T X: 166,457,864 Y150* probably null Het
Rhox2g T A X: 37,642,810 N152I probably damaging Het
Sema6d T C 2: 124,656,924 probably benign Het
Simc1 C A 13: 54,525,176 Q446K probably benign Het
Svs2 G T 2: 164,237,042 T315K possibly damaging Het
Syt9 C T 7: 107,425,367 R156* probably null Het
Tmem260 A T 14: 48,509,121 Y618F probably damaging Het
Zfp518a T G 19: 40,913,470 I614M probably damaging Het
Other mutations in Wdr44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Wdr44 APN X 23732309 intron probably benign
R1394:Wdr44 UTSW X 23796059 missense probably damaging 1.00
R1395:Wdr44 UTSW X 23796059 missense probably damaging 1.00
Posted On2012-04-20