Incidental Mutation 'IGL01553:Wdfy3'
ID 90637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdfy3
Ensembl Gene ENSMUSG00000043940
Gene Name WD repeat and FYVE domain containing 3
Synonyms D5Ertd66e, Bwf1, Bchs, 2610509D04Rik, Ggtb3
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # IGL01553
Quality Score
Status
Chromosome 5
Chromosomal Location 101832956-102069921 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101900031 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1803 (C1803S)
Ref Sequence ENSEMBL: ENSMUSP00000134244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053177] [ENSMUST00000174598] [ENSMUST00000212024]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053177
AA Change: C1803S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052607
Gene: ENSMUSG00000043940
AA Change: C1803S

DomainStartEndE-ValueType
low complexity region 463 481 N/A INTRINSIC
low complexity region 1408 1417 N/A INTRINSIC
low complexity region 1629 1644 N/A INTRINSIC
Pfam:PH_BEACH 2517 2638 3.1e-17 PFAM
Beach 2677 2958 2.54e-217 SMART
WD40 3054 3088 1.28e1 SMART
WD40 3098 3137 7.73e-6 SMART
WD40 3140 3178 8.29e-1 SMART
WD40 3183 3227 3.09e-1 SMART
low complexity region 3253 3274 N/A INTRINSIC
low complexity region 3307 3318 N/A INTRINSIC
WD40 3381 3420 1.33e1 SMART
FYVE 3428 3497 3.18e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174598
AA Change: C1803S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134244
Gene: ENSMUSG00000043940
AA Change: C1803S

DomainStartEndE-ValueType
low complexity region 463 481 N/A INTRINSIC
Pfam:DUF4704 1392 1597 6.6e-11 PFAM
low complexity region 1629 1644 N/A INTRINSIC
Pfam:PH_BEACH 2588 2656 1.8e-14 PFAM
Beach 2695 2976 2.54e-217 SMART
WD40 3072 3106 1.28e1 SMART
WD40 3116 3155 7.73e-6 SMART
WD40 3158 3196 8.29e-1 SMART
WD40 3201 3245 3.09e-1 SMART
low complexity region 3271 3292 N/A INTRINSIC
low complexity region 3325 3336 N/A INTRINSIC
WD40 3399 3438 1.33e1 SMART
FYVE 3446 3515 3.18e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212024
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for hypomorphic mutations of this gene exhibit perinatal lethality, altered neural progenitor divisions and neuronal migration, a regionally enlarged cerebral cortex, and focal cortical dysplasias. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 T A 13: 4,194,775 (GRCm38) H117Q probably damaging Het
Arhgap44 T C 11: 65,053,118 (GRCm38) N188S probably damaging Het
Bach1 T A 16: 87,722,505 (GRCm38) I561N probably damaging Het
Bsph2 G T 7: 13,556,720 (GRCm38) T78K probably damaging Het
Ccdc178 A G 18: 21,915,006 (GRCm38) Y776H probably damaging Het
Ccdc7a T C 8: 129,026,591 (GRCm38) probably benign Het
Cenpp C T 13: 49,464,776 (GRCm38) V218M probably damaging Het
Dnmt3l A G 10: 78,063,248 (GRCm38) S94G probably benign Het
Dock7 A T 4: 98,945,566 (GRCm38) Y1839* probably null Het
Gabra6 T A 11: 42,315,196 (GRCm38) T278S probably damaging Het
Galnt11 G A 5: 25,247,720 (GRCm38) D77N probably benign Het
Gm17175 T C 14: 51,570,822 (GRCm38) D171G probably benign Het
Iqch T C 9: 63,500,917 (GRCm38) N655S probably benign Het
Kdm1b T A 13: 47,080,548 (GRCm38) I786N probably damaging Het
Macf1 G A 4: 123,493,163 (GRCm38) Q976* probably null Het
Mbtd1 T A 11: 93,923,214 (GRCm38) C228S probably benign Het
Myo10 T C 15: 25,776,329 (GRCm38) L46P probably damaging Het
Niban3 G T 8: 71,602,902 (GRCm38) A319S possibly damaging Het
Nup133 A G 8: 123,915,324 (GRCm38) V800A possibly damaging Het
Or5h23 G T 16: 59,086,322 (GRCm38) H54N probably benign Het
Prkca C T 11: 108,057,834 (GRCm38) G110R probably benign Het
Samd9l A T 6: 3,375,566 (GRCm38) M565K probably damaging Het
Scgn T C 13: 23,959,679 (GRCm38) Q77R probably benign Het
Serpinb6b T C 13: 32,974,948 (GRCm38) L44P probably damaging Het
Tfrc T C 16: 32,628,585 (GRCm38) V673A probably benign Het
Tsfm G A 10: 127,028,390 (GRCm38) T152M probably benign Het
Other mutations in Wdfy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Wdfy3 APN 5 101,915,338 (GRCm38) critical splice donor site probably null
IGL00567:Wdfy3 APN 5 101,912,030 (GRCm38) splice site probably benign
IGL01288:Wdfy3 APN 5 101,901,991 (GRCm38) splice site probably null
IGL01323:Wdfy3 APN 5 101,895,064 (GRCm38) missense probably damaging 1.00
IGL01352:Wdfy3 APN 5 101,944,120 (GRCm38) missense probably damaging 1.00
IGL01560:Wdfy3 APN 5 101,957,486 (GRCm38) nonsense probably null
IGL01566:Wdfy3 APN 5 101,896,588 (GRCm38) splice site probably benign
IGL01616:Wdfy3 APN 5 101,913,260 (GRCm38) missense probably damaging 0.97
IGL01630:Wdfy3 APN 5 101,907,488 (GRCm38) missense probably benign
IGL01791:Wdfy3 APN 5 101,937,412 (GRCm38) missense probably damaging 1.00
IGL01820:Wdfy3 APN 5 101,924,081 (GRCm38) missense probably benign 0.11
IGL01953:Wdfy3 APN 5 101,895,028 (GRCm38) nonsense probably null
IGL02121:Wdfy3 APN 5 101,898,510 (GRCm38) missense possibly damaging 0.85
IGL02167:Wdfy3 APN 5 101,961,157 (GRCm38) missense probably damaging 0.98
IGL02321:Wdfy3 APN 5 101,922,609 (GRCm38) missense probably damaging 0.99
IGL02327:Wdfy3 APN 5 101,888,192 (GRCm38) missense probably damaging 1.00
IGL02651:Wdfy3 APN 5 101,896,475 (GRCm38) missense probably benign 0.37
IGL02801:Wdfy3 APN 5 101,907,587 (GRCm38) missense probably damaging 1.00
IGL02839:Wdfy3 APN 5 101,968,920 (GRCm38) missense probably damaging 1.00
IGL02870:Wdfy3 APN 5 101,855,471 (GRCm38) missense probably damaging 1.00
IGL02997:Wdfy3 APN 5 101,894,912 (GRCm38) missense probably null 1.00
IGL03064:Wdfy3 APN 5 101,935,997 (GRCm38) missense probably damaging 0.99
IGL03090:Wdfy3 APN 5 101,866,276 (GRCm38) missense probably damaging 1.00
IGL03211:Wdfy3 APN 5 101,844,912 (GRCm38) splice site probably benign
IGL03237:Wdfy3 APN 5 101,844,599 (GRCm38) missense probably damaging 1.00
IGL03264:Wdfy3 APN 5 101,900,150 (GRCm38) missense probably damaging 1.00
Esurient UTSW 5 101,944,103 (GRCm38) missense probably damaging 1.00
IGL02988:Wdfy3 UTSW 5 101,929,981 (GRCm38) missense probably damaging 0.99
PIT4382001:Wdfy3 UTSW 5 101,882,961 (GRCm38) frame shift probably null
R0010:Wdfy3 UTSW 5 101,848,349 (GRCm38) missense probably damaging 1.00
R0010:Wdfy3 UTSW 5 101,848,349 (GRCm38) missense probably damaging 1.00
R0025:Wdfy3 UTSW 5 101,845,046 (GRCm38) missense probably damaging 0.98
R0031:Wdfy3 UTSW 5 101,889,295 (GRCm38) missense probably damaging 0.97
R0047:Wdfy3 UTSW 5 101,944,033 (GRCm38) missense probably damaging 1.00
R0047:Wdfy3 UTSW 5 101,944,033 (GRCm38) missense probably damaging 1.00
R0053:Wdfy3 UTSW 5 101,844,614 (GRCm38) missense probably damaging 0.97
R0078:Wdfy3 UTSW 5 101,888,105 (GRCm38) missense possibly damaging 0.57
R0147:Wdfy3 UTSW 5 101,917,411 (GRCm38) missense probably benign 0.05
R0148:Wdfy3 UTSW 5 101,917,411 (GRCm38) missense probably benign 0.05
R0279:Wdfy3 UTSW 5 101,868,092 (GRCm38) missense probably damaging 1.00
R0380:Wdfy3 UTSW 5 101,948,966 (GRCm38) missense probably damaging 0.99
R0472:Wdfy3 UTSW 5 101,957,443 (GRCm38) missense probably benign 0.13
R0513:Wdfy3 UTSW 5 101,890,789 (GRCm38) missense probably damaging 0.96
R0594:Wdfy3 UTSW 5 101,906,185 (GRCm38) missense possibly damaging 0.94
R0601:Wdfy3 UTSW 5 101,836,172 (GRCm38) missense probably benign
R0787:Wdfy3 UTSW 5 101,957,388 (GRCm38) missense probably damaging 1.00
R0825:Wdfy3 UTSW 5 101,870,051 (GRCm38) missense probably damaging 1.00
R1122:Wdfy3 UTSW 5 101,882,966 (GRCm38) missense possibly damaging 0.94
R1167:Wdfy3 UTSW 5 101,875,931 (GRCm38) missense probably benign
R1350:Wdfy3 UTSW 5 101,898,552 (GRCm38) missense probably damaging 1.00
R1422:Wdfy3 UTSW 5 101,884,214 (GRCm38) splice site probably benign
R1446:Wdfy3 UTSW 5 101,851,310 (GRCm38) missense possibly damaging 0.68
R1452:Wdfy3 UTSW 5 101,937,738 (GRCm38) missense possibly damaging 0.91
R1457:Wdfy3 UTSW 5 101,917,579 (GRCm38) missense possibly damaging 0.57
R1543:Wdfy3 UTSW 5 101,844,081 (GRCm38) missense probably benign
R1633:Wdfy3 UTSW 5 101,981,548 (GRCm38) missense probably damaging 1.00
R1643:Wdfy3 UTSW 5 101,875,915 (GRCm38) missense possibly damaging 0.62
R1656:Wdfy3 UTSW 5 101,941,447 (GRCm38) missense probably damaging 1.00
R1720:Wdfy3 UTSW 5 101,926,525 (GRCm38) frame shift probably null
R1743:Wdfy3 UTSW 5 101,844,065 (GRCm38) missense probably benign 0.12
R1745:Wdfy3 UTSW 5 101,948,929 (GRCm38) missense probably damaging 0.96
R1850:Wdfy3 UTSW 5 101,894,999 (GRCm38) missense probably damaging 1.00
R1852:Wdfy3 UTSW 5 101,915,376 (GRCm38) missense probably benign 0.00
R1854:Wdfy3 UTSW 5 101,888,186 (GRCm38) missense probably benign 0.05
R1880:Wdfy3 UTSW 5 101,917,435 (GRCm38) missense probably benign 0.05
R1930:Wdfy3 UTSW 5 101,941,492 (GRCm38) missense probably damaging 1.00
R1931:Wdfy3 UTSW 5 101,941,492 (GRCm38) missense probably damaging 1.00
R1956:Wdfy3 UTSW 5 101,919,409 (GRCm38) missense probably benign 0.30
R1965:Wdfy3 UTSW 5 101,951,312 (GRCm38) missense probably damaging 1.00
R1997:Wdfy3 UTSW 5 101,968,946 (GRCm38) missense probably damaging 1.00
R2015:Wdfy3 UTSW 5 101,860,486 (GRCm38) missense probably null 1.00
R2087:Wdfy3 UTSW 5 101,895,060 (GRCm38) missense probably damaging 1.00
R2156:Wdfy3 UTSW 5 101,898,425 (GRCm38) critical splice donor site probably null
R2192:Wdfy3 UTSW 5 101,907,542 (GRCm38) missense possibly damaging 0.55
R2313:Wdfy3 UTSW 5 101,889,284 (GRCm38) missense probably damaging 1.00
R2332:Wdfy3 UTSW 5 101,888,323 (GRCm38) splice site probably benign
R2406:Wdfy3 UTSW 5 101,888,259 (GRCm38) missense probably damaging 1.00
R2679:Wdfy3 UTSW 5 101,870,036 (GRCm38) missense probably damaging 1.00
R2857:Wdfy3 UTSW 5 101,875,930 (GRCm38) missense probably benign 0.04
R2937:Wdfy3 UTSW 5 101,944,122 (GRCm38) missense probably benign 0.07
R3765:Wdfy3 UTSW 5 101,861,400 (GRCm38) missense probably damaging 1.00
R3795:Wdfy3 UTSW 5 101,937,600 (GRCm38) missense probably damaging 1.00
R3937:Wdfy3 UTSW 5 101,944,239 (GRCm38) nonsense probably null
R3947:Wdfy3 UTSW 5 101,870,036 (GRCm38) missense probably damaging 1.00
R4024:Wdfy3 UTSW 5 101,924,095 (GRCm38) splice site probably benign
R4065:Wdfy3 UTSW 5 101,922,447 (GRCm38) missense probably benign 0.08
R4066:Wdfy3 UTSW 5 101,922,447 (GRCm38) missense probably benign 0.08
R4110:Wdfy3 UTSW 5 101,900,058 (GRCm38) critical splice donor site probably null
R4235:Wdfy3 UTSW 5 101,922,634 (GRCm38) critical splice acceptor site probably null
R4420:Wdfy3 UTSW 5 101,910,984 (GRCm38) missense probably damaging 0.97
R4620:Wdfy3 UTSW 5 101,906,145 (GRCm38) missense probably damaging 0.99
R4624:Wdfy3 UTSW 5 101,884,083 (GRCm38) missense possibly damaging 0.52
R4626:Wdfy3 UTSW 5 101,943,934 (GRCm38) missense probably damaging 1.00
R4727:Wdfy3 UTSW 5 101,930,028 (GRCm38) missense probably damaging 0.99
R4794:Wdfy3 UTSW 5 101,943,943 (GRCm38) missense probably damaging 1.00
R4869:Wdfy3 UTSW 5 101,894,921 (GRCm38) missense probably damaging 0.98
R4971:Wdfy3 UTSW 5 101,948,972 (GRCm38) nonsense probably null
R4973:Wdfy3 UTSW 5 101,943,119 (GRCm38) missense probably benign 0.00
R4976:Wdfy3 UTSW 5 101,943,119 (GRCm38) missense probably benign 0.00
R4984:Wdfy3 UTSW 5 101,943,119 (GRCm38) missense probably benign 0.00
R4986:Wdfy3 UTSW 5 101,943,119 (GRCm38) missense probably benign 0.00
R5068:Wdfy3 UTSW 5 101,894,937 (GRCm38) missense probably benign 0.15
R5105:Wdfy3 UTSW 5 101,855,549 (GRCm38) missense probably damaging 1.00
R5120:Wdfy3 UTSW 5 101,868,106 (GRCm38) missense possibly damaging 0.85
R5134:Wdfy3 UTSW 5 101,944,103 (GRCm38) missense probably damaging 1.00
R5139:Wdfy3 UTSW 5 101,849,267 (GRCm38) critical splice donor site probably null
R5235:Wdfy3 UTSW 5 101,847,106 (GRCm38) missense probably null 0.03
R5303:Wdfy3 UTSW 5 101,952,983 (GRCm38) missense probably damaging 1.00
R5368:Wdfy3 UTSW 5 101,872,858 (GRCm38) missense probably damaging 1.00
R5426:Wdfy3 UTSW 5 101,919,446 (GRCm38) missense probably damaging 0.97
R5442:Wdfy3 UTSW 5 101,896,559 (GRCm38) missense probably benign 0.04
R5487:Wdfy3 UTSW 5 101,836,274 (GRCm38) missense probably damaging 1.00
R5509:Wdfy3 UTSW 5 101,861,448 (GRCm38) missense possibly damaging 0.69
R5877:Wdfy3 UTSW 5 101,869,989 (GRCm38) missense probably damaging 1.00
R5988:Wdfy3 UTSW 5 101,884,138 (GRCm38) missense probably benign 0.00
R6017:Wdfy3 UTSW 5 101,851,359 (GRCm38) missense probably benign 0.01
R6019:Wdfy3 UTSW 5 101,849,423 (GRCm38) missense probably damaging 1.00
R6199:Wdfy3 UTSW 5 101,872,965 (GRCm38) missense possibly damaging 0.93
R6228:Wdfy3 UTSW 5 101,898,429 (GRCm38) missense possibly damaging 0.67
R6258:Wdfy3 UTSW 5 101,872,965 (GRCm38) missense possibly damaging 0.93
R6259:Wdfy3 UTSW 5 101,872,965 (GRCm38) missense possibly damaging 0.93
R6298:Wdfy3 UTSW 5 101,968,946 (GRCm38) missense probably damaging 1.00
R6479:Wdfy3 UTSW 5 101,913,179 (GRCm38) missense probably damaging 1.00
R6550:Wdfy3 UTSW 5 101,953,166 (GRCm38) missense probably benign 0.19
R6776:Wdfy3 UTSW 5 101,884,045 (GRCm38) missense possibly damaging 0.57
R6793:Wdfy3 UTSW 5 101,917,431 (GRCm38) nonsense probably null
R6809:Wdfy3 UTSW 5 101,923,947 (GRCm38) missense possibly damaging 0.63
R6836:Wdfy3 UTSW 5 101,952,999 (GRCm38) missense probably damaging 1.00
R6897:Wdfy3 UTSW 5 101,844,066 (GRCm38) missense probably benign 0.10
R7014:Wdfy3 UTSW 5 101,894,909 (GRCm38) critical splice donor site probably null
R7034:Wdfy3 UTSW 5 101,907,518 (GRCm38) missense probably damaging 1.00
R7035:Wdfy3 UTSW 5 101,855,549 (GRCm38) missense probably damaging 1.00
R7135:Wdfy3 UTSW 5 101,915,437 (GRCm38) missense probably damaging 1.00
R7182:Wdfy3 UTSW 5 101,943,892 (GRCm38) missense possibly damaging 0.51
R7217:Wdfy3 UTSW 5 101,901,919 (GRCm38) missense probably damaging 1.00
R7236:Wdfy3 UTSW 5 101,836,208 (GRCm38) missense probably damaging 0.99
R7264:Wdfy3 UTSW 5 101,855,523 (GRCm38) missense probably benign 0.02
R7418:Wdfy3 UTSW 5 101,957,500 (GRCm38) missense probably benign 0.08
R7533:Wdfy3 UTSW 5 101,882,488 (GRCm38) missense probably benign 0.27
R7543:Wdfy3 UTSW 5 101,936,059 (GRCm38) missense probably benign 0.00
R7625:Wdfy3 UTSW 5 101,855,386 (GRCm38) splice site probably null
R7788:Wdfy3 UTSW 5 101,848,357 (GRCm38) missense probably damaging 0.99
R7810:Wdfy3 UTSW 5 101,951,399 (GRCm38) nonsense probably null
R7810:Wdfy3 UTSW 5 101,895,074 (GRCm38) missense probably benign 0.01
R8204:Wdfy3 UTSW 5 101,852,585 (GRCm38) missense probably benign 0.00
R8268:Wdfy3 UTSW 5 101,941,610 (GRCm38) missense probably damaging 1.00
R8286:Wdfy3 UTSW 5 101,937,421 (GRCm38) missense probably benign
R8507:Wdfy3 UTSW 5 101,872,901 (GRCm38) missense probably benign 0.05
R8514:Wdfy3 UTSW 5 101,851,353 (GRCm38) missense possibly damaging 0.92
R8536:Wdfy3 UTSW 5 101,885,198 (GRCm38) missense probably benign
R8710:Wdfy3 UTSW 5 101,882,483 (GRCm38) missense probably damaging 1.00
R8735:Wdfy3 UTSW 5 101,930,085 (GRCm38) missense probably benign 0.00
R8749:Wdfy3 UTSW 5 101,882,580 (GRCm38) missense probably damaging 1.00
R8931:Wdfy3 UTSW 5 101,917,555 (GRCm38) missense probably benign 0.11
R8943:Wdfy3 UTSW 5 101,845,365 (GRCm38) intron probably benign
R8968:Wdfy3 UTSW 5 101,864,117 (GRCm38) missense probably benign 0.05
R8979:Wdfy3 UTSW 5 101,948,898 (GRCm38) missense probably damaging 1.00
R8998:Wdfy3 UTSW 5 101,845,192 (GRCm38) missense probably benign 0.05
R9045:Wdfy3 UTSW 5 101,847,174 (GRCm38) missense probably damaging 1.00
R9068:Wdfy3 UTSW 5 101,852,585 (GRCm38) missense probably benign 0.34
R9105:Wdfy3 UTSW 5 101,882,646 (GRCm38) missense probably benign 0.05
R9122:Wdfy3 UTSW 5 101,943,965 (GRCm38) missense probably damaging 1.00
R9209:Wdfy3 UTSW 5 101,930,964 (GRCm38) missense probably benign 0.01
R9249:Wdfy3 UTSW 5 101,848,493 (GRCm38) missense possibly damaging 0.82
R9348:Wdfy3 UTSW 5 101,941,492 (GRCm38) missense probably damaging 1.00
R9481:Wdfy3 UTSW 5 101,852,612 (GRCm38) missense probably benign 0.19
R9490:Wdfy3 UTSW 5 101,930,850 (GRCm38) missense probably benign 0.29
R9524:Wdfy3 UTSW 5 101,907,467 (GRCm38) missense probably benign 0.03
R9545:Wdfy3 UTSW 5 101,953,091 (GRCm38) missense
R9548:Wdfy3 UTSW 5 101,885,193 (GRCm38) missense probably damaging 0.99
R9636:Wdfy3 UTSW 5 101,900,033 (GRCm38) missense probably benign
R9750:Wdfy3 UTSW 5 101,930,094 (GRCm38) missense probably benign 0.00
R9766:Wdfy3 UTSW 5 101,895,000 (GRCm38) missense possibly damaging 0.90
R9771:Wdfy3 UTSW 5 101,852,329 (GRCm38) missense probably damaging 1.00
Z1177:Wdfy3 UTSW 5 101,900,241 (GRCm38) missense probably benign 0.39
Posted On 2013-12-09