Incidental Mutation 'IGL00508:Wdr44'
ID 3139
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 # IGL00508
Quality Score
Status
Chromosome X
Chromosomal Location 23559290-23672264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23666783 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q6NVE8
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: 81,654,306 (GRCm39) D2188E probably damaging Het
Atrx A G X: 104,867,405 (GRCm39) S2026P probably damaging Het
Cacna1b A C 2: 24,547,301 (GRCm39) probably null Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cfap57 C T 4: 118,438,367 (GRCm39) probably null Het
Ckap5 T G 2: 91,436,601 (GRCm39) V1567G probably damaging Het
Cyp2c38 A T 19: 39,449,169 (GRCm39) Y61* probably null Het
D130052B06Rik A G 11: 33,549,402 (GRCm39) E7G unknown Het
Dhx38 A G 8: 110,283,566 (GRCm39) L527P possibly damaging Het
Dnaaf5 A G 5: 139,163,701 (GRCm39) N653D probably benign Het
Dnah8 T G 17: 31,074,904 (GRCm39) M4541R probably damaging Het
Dpyd A T 3: 118,858,636 (GRCm39) T617S probably benign Het
Fpr2 A T 17: 18,113,034 (GRCm39) N10I probably damaging Het
Frmd4a A T 2: 4,599,545 (GRCm39) K524* probably null Het
Gpr45 C T 1: 43,071,452 (GRCm39) P32S possibly damaging Het
H2-Eb2 A T 17: 34,553,341 (GRCm39) I176F probably damaging Het
Hcrtr1 T A 4: 130,031,062 (GRCm39) N74I probably damaging Het
Ifi47 C T 11: 48,986,241 (GRCm39) Q3* probably null Het
Krt8 T A 15: 101,906,460 (GRCm39) M350L probably benign Het
Lilra6 A G 7: 3,914,553 (GRCm39) S533P probably benign Het
Map1b A T 13: 99,565,741 (GRCm39) S2327T unknown Het
Mcoln3 T A 3: 145,839,683 (GRCm39) I345N probably damaging Het
Mettl3 C A 14: 52,532,436 (GRCm39) probably benign Het
Mgat4a G A 1: 37,488,204 (GRCm39) R472* probably null Het
Micall1 A G 15: 79,014,768 (GRCm39) K715E probably damaging Het
Pak1 G T 7: 97,503,775 (GRCm39) G37C probably benign Het
Pomt2 T G 12: 87,166,401 (GRCm39) H426P probably damaging Het
Pou2f3 G A 9: 43,051,258 (GRCm39) P155S probably benign Het
Psg25 A G 7: 18,263,656 (GRCm39) Y56H probably benign Het
Rab9 G T X: 165,240,860 (GRCm39) Y150* probably null Het
Rhox2g T A X: 36,824,463 (GRCm39) N152I probably damaging Het
Sema6d T C 2: 124,498,844 (GRCm39) probably benign Het
Simc1 C A 13: 54,672,989 (GRCm39) Q446K probably benign Het
Svs5 G T 2: 164,078,962 (GRCm39) T315K possibly damaging Het
Syt9 C T 7: 107,024,574 (GRCm39) R156* probably null Het
Tmem260 A T 14: 48,746,578 (GRCm39) Y618F probably damaging Het
Zfp518a T G 19: 40,901,914 (GRCm39) I614M probably damaging Het
Other mutations in Wdr44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Wdr44 APN X 23,598,548 (GRCm39) intron probably benign
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 2012-04-20