Incidental Mutation 'IGL00332:Nedd4'
ID 332290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nedd4
Ensembl Gene ENSMUSG00000032216
Gene Name neural precursor cell expressed, developmentally down-regulated 4
Synonyms E430025J12Rik, Nedd4a, Nedd4, Nedd4-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00332
Quality Score
Status
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72642371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 550 (V550E)
Ref Sequence ENSEMBL: ENSMUSP00000034740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034740]
AlphaFold P46935
PDB Structure Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000034740
AA Change: V550E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: V550E

DomainStartEndE-ValueType
C2 79 181 5.38e-21 SMART
WW 250 282 2.32e-13 SMART
low complexity region 283 293 N/A INTRINSIC
WW 406 438 1.31e-12 SMART
WW 461 493 1.26e-14 SMART
HECTc 550 886 2.37e-194 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194508
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in neonatal lethality and heterozygous mice have decreased body weights. Mice homozygous for a knockout allele exhibit impaired neurite development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,083,737 (GRCm39) Y404H possibly damaging Het
Adgrv1 T A 13: 81,620,996 (GRCm39) probably benign Het
Akap13 A G 7: 75,378,667 (GRCm39) K2107E probably damaging Het
Ankrd42 A G 7: 92,233,662 (GRCm39) probably benign Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Aplnr A G 2: 84,967,985 (GRCm39) S337G probably benign Het
Arhgef40 A G 14: 52,226,417 (GRCm39) N154D probably damaging Het
Asb14 A G 14: 26,633,998 (GRCm39) K401R probably benign Het
Aspn C A 13: 49,719,968 (GRCm39) T328K probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brca2 T A 5: 150,463,363 (GRCm39) H1042Q probably benign Het
C3 A G 17: 57,533,004 (GRCm39) L167P probably benign Het
Ccdc33 A G 9: 57,977,257 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,063 (GRCm39) M222K possibly damaging Het
Cfap45 C T 1: 172,362,912 (GRCm39) probably benign Het
Chil3 T A 3: 106,056,017 (GRCm39) N352I probably damaging Het
Chn2 G T 6: 54,272,907 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cpt1b T C 15: 89,305,066 (GRCm39) E394G probably benign Het
Fcgr2b T A 1: 170,788,799 (GRCm39) N273I possibly damaging Het
Fpr-rs7 G A 17: 20,333,480 (GRCm39) Q337* probably null Het
Fras1 T A 5: 96,887,217 (GRCm39) N2666K possibly damaging Het
Gfra3 C T 18: 34,824,601 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr75 C T 11: 30,841,590 (GRCm39) T165I probably damaging Het
Gzmd A T 14: 56,367,737 (GRCm39) C179S probably damaging Het
Hand1 T G 11: 57,722,575 (GRCm39) H13P probably damaging Het
Irak3 C T 10: 120,013,972 (GRCm39) probably null Het
Isl2 T A 9: 55,452,253 (GRCm39) L275Q possibly damaging Het
Itgb2 T C 10: 77,393,240 (GRCm39) V367A probably damaging Het
Katna1 T C 10: 7,638,758 (GRCm39) probably benign Het
Myh6 A G 14: 55,184,450 (GRCm39) M1627T probably benign Het
Naprt A G 15: 75,765,164 (GRCm39) Y187H probably damaging Het
Nt5c2 A G 19: 46,884,954 (GRCm39) V252A possibly damaging Het
Or8k39 T C 2: 86,563,579 (GRCm39) I126V possibly damaging Het
Or9i16 C T 19: 13,864,945 (GRCm39) V210I probably benign Het
P2ry2 A G 7: 100,647,393 (GRCm39) V304A probably damaging Het
Pde4dip T C 3: 97,674,593 (GRCm39) N108D probably benign Het
Pdgfrl A G 8: 41,438,660 (GRCm39) T199A probably damaging Het
Plaa A G 4: 94,470,844 (GRCm39) Y431H probably benign Het
Pls1 A T 9: 95,664,472 (GRCm39) I177N possibly damaging Het
Plxna2 T C 1: 194,472,138 (GRCm39) F1035L probably damaging Het
Ppp6r3 A T 19: 3,564,729 (GRCm39) probably null Het
Prpf4b T C 13: 35,067,890 (GRCm39) S240P probably benign Het
Reg2 T A 6: 78,383,204 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,682,965 (GRCm39) T361I probably benign Het
Rps4l A G 6: 148,256,383 (GRCm39) probably benign Het
Scn11a A T 9: 119,598,982 (GRCm39) F1183I probably damaging Het
Sh2b2 T C 5: 136,253,273 (GRCm39) E327G probably damaging Het
Shank2 A G 7: 143,965,584 (GRCm39) K1057R probably damaging Het
Sim2 T A 16: 93,915,803 (GRCm39) Y255* probably null Het
Snx9 A G 17: 5,949,636 (GRCm39) N112S probably benign Het
Sphkap T A 1: 83,258,237 (GRCm39) I169F probably damaging Het
Spink5 A G 18: 44,100,111 (GRCm39) T43A probably benign Het
Stac2 C T 11: 97,932,005 (GRCm39) S265N probably benign Het
Tbx20 A G 9: 24,670,044 (GRCm39) V91A probably damaging Het
Tgfbr2 C T 9: 115,939,257 (GRCm39) R190H probably damaging Het
Ubr2 A G 17: 47,301,916 (GRCm39) probably null Het
Wdfy3 C T 5: 102,063,204 (GRCm39) probably null Het
Wdr82 T C 9: 106,061,449 (GRCm39) V166A probably benign Het
Zfhx4 C T 3: 5,307,401 (GRCm39) A209V probably damaging Het
Zfp518b T A 5: 38,831,109 (GRCm39) T299S possibly damaging Het
Other mutations in Nedd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Nedd4 APN 9 72,593,338 (GRCm39) splice site probably null
IGL01973:Nedd4 APN 9 72,644,216 (GRCm39) missense possibly damaging 0.81
IGL02177:Nedd4 APN 9 72,654,439 (GRCm39) missense probably damaging 1.00
IGL03082:Nedd4 APN 9 72,584,676 (GRCm39) critical splice donor site probably null
Evaporation UTSW 9 72,593,377 (GRCm39) missense probably damaging 1.00
Reduction UTSW 9 72,638,553 (GRCm39) missense possibly damaging 0.49
Snookie UTSW 9 72,632,346 (GRCm39) missense probably benign 0.04
Sublimation UTSW 9 72,584,661 (GRCm39) nonsense probably null
R0194:Nedd4 UTSW 9 72,577,335 (GRCm39) missense possibly damaging 0.72
R0714:Nedd4 UTSW 9 72,638,728 (GRCm39) splice site probably benign
R1331:Nedd4 UTSW 9 72,584,668 (GRCm39) missense probably damaging 1.00
R1633:Nedd4 UTSW 9 72,578,539 (GRCm39) missense possibly damaging 0.50
R1764:Nedd4 UTSW 9 72,638,189 (GRCm39) missense probably damaging 0.99
R2192:Nedd4 UTSW 9 72,650,000 (GRCm39) missense probably damaging 0.99
R2196:Nedd4 UTSW 9 72,632,356 (GRCm39) missense possibly damaging 0.77
R2220:Nedd4 UTSW 9 72,643,989 (GRCm39) missense probably damaging 1.00
R2850:Nedd4 UTSW 9 72,632,356 (GRCm39) missense possibly damaging 0.77
R2994:Nedd4 UTSW 9 72,638,185 (GRCm39) missense probably benign 0.04
R3040:Nedd4 UTSW 9 72,577,243 (GRCm39) missense probably benign
R3697:Nedd4 UTSW 9 72,647,469 (GRCm39) missense probably damaging 1.00
R3884:Nedd4 UTSW 9 72,632,359 (GRCm39) missense probably benign 0.16
R4475:Nedd4 UTSW 9 72,578,521 (GRCm39) nonsense probably null
R4476:Nedd4 UTSW 9 72,578,521 (GRCm39) nonsense probably null
R4883:Nedd4 UTSW 9 72,647,515 (GRCm39) splice site probably null
R5066:Nedd4 UTSW 9 72,617,801 (GRCm39) missense probably damaging 1.00
R5947:Nedd4 UTSW 9 72,638,132 (GRCm39) intron probably benign
R5974:Nedd4 UTSW 9 72,650,920 (GRCm39) critical splice donor site probably null
R6247:Nedd4 UTSW 9 72,633,720 (GRCm39) missense probably damaging 1.00
R6651:Nedd4 UTSW 9 72,638,553 (GRCm39) missense possibly damaging 0.49
R6661:Nedd4 UTSW 9 72,593,377 (GRCm39) missense probably damaging 1.00
R7170:Nedd4 UTSW 9 72,577,381 (GRCm39) missense probably benign 0.00
R7237:Nedd4 UTSW 9 72,632,346 (GRCm39) missense probably benign 0.04
R7653:Nedd4 UTSW 9 72,650,910 (GRCm39) missense probably damaging 1.00
R7772:Nedd4 UTSW 9 72,584,608 (GRCm39) missense possibly damaging 0.77
R7905:Nedd4 UTSW 9 72,584,661 (GRCm39) nonsense probably null
R8194:Nedd4 UTSW 9 72,593,389 (GRCm39) missense probably damaging 1.00
R8229:Nedd4 UTSW 9 72,638,670 (GRCm39) missense probably benign 0.00
R8422:Nedd4 UTSW 9 72,649,964 (GRCm39) missense probably damaging 0.99
R8487:Nedd4 UTSW 9 72,577,321 (GRCm39) missense probably damaging 0.98
R8733:Nedd4 UTSW 9 72,633,766 (GRCm39) missense possibly damaging 0.80
R8956:Nedd4 UTSW 9 72,633,708 (GRCm39) missense probably benign 0.03
R9261:Nedd4 UTSW 9 72,584,656 (GRCm39) missense possibly damaging 0.93
R9447:Nedd4 UTSW 9 72,577,381 (GRCm39) missense probably benign
Z1088:Nedd4 UTSW 9 72,577,360 (GRCm39) missense probably benign 0.22
Posted On 2015-08-05