Incidental Mutation 'IGL03082:Nedd4'
ID 417926
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 # IGL03082
Quality Score
Status
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 72584676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034740] [ENSMUST00000183375] [ENSMUST00000184333] [ENSMUST00000184450]
AlphaFold P46935
Predicted Effect probably null
Transcript: ENSMUST00000034740
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216

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 null
Transcript: ENSMUST00000183375
SMART Domains Protein: ENSMUSP00000138852
Gene: ENSMUSG00000032216

DomainStartEndE-ValueType
C2 79 163 1.12e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184333
SMART Domains Protein: ENSMUSP00000139190
Gene: ENSMUSG00000032216

DomainStartEndE-ValueType
C2 4 71 3.38e-4 SMART
WW 140 172 2.32e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000184450
SMART Domains Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216

DomainStartEndE-ValueType
C2 79 181 5.38e-21 SMART
WW 250 282 2.32e-13 SMART
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,594,428 (GRCm39) N324K probably benign Het
Atpaf2 T C 11: 60,294,670 (GRCm39) E251G probably damaging Het
Cacna1d T C 14: 29,821,190 (GRCm39) K1109E probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chst1 C T 2: 92,444,278 (GRCm39) T250I possibly damaging Het
Cpne6 T C 14: 55,753,760 (GRCm39) L406P probably damaging Het
Cryz A G 3: 154,310,563 (GRCm39) M8V probably damaging Het
Dpysl2 T C 14: 67,045,459 (GRCm39) E438G probably damaging Het
Elovl1 T C 4: 118,288,077 (GRCm39) I71T probably benign Het
Eml2 T A 7: 18,935,802 (GRCm39) Y679N probably damaging Het
Fam185a G A 5: 21,660,836 (GRCm39) V284I possibly damaging Het
Fpgs C T 2: 32,575,769 (GRCm39) W391* probably null Het
Hdac11 C T 6: 91,150,085 (GRCm39) P295S probably damaging Het
Herc2 A T 7: 55,835,671 (GRCm39) I3260F probably benign Het
Hltf G A 3: 20,118,723 (GRCm39) probably benign Het
Immp2l T G 12: 41,160,900 (GRCm39) V66G possibly damaging Het
Lrrc4c T C 2: 97,460,931 (GRCm39) I519T probably benign Het
Megf8 A G 7: 25,029,661 (GRCm39) T402A probably benign Het
Mttp T G 3: 137,829,556 (GRCm39) I111L probably benign Het
Mycbp2 T A 14: 103,441,805 (GRCm39) I1987F probably benign Het
Ncr1 T A 7: 4,344,241 (GRCm39) probably benign Het
Nherf4 A T 9: 44,162,083 (GRCm39) S39T possibly damaging Het
Nnt A G 13: 119,533,404 (GRCm39) F87S probably damaging Het
Nol6 A G 4: 41,115,878 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,635,857 (GRCm39) I491N probably damaging Het
Plcxd2 T C 16: 45,785,473 (GRCm39) I311V probably damaging Het
Pou2f3 C A 9: 43,058,212 (GRCm39) probably null Het
Rgsl1 G A 1: 153,675,693 (GRCm39) T836I possibly damaging Het
Rttn G A 18: 89,002,072 (GRCm39) G328D probably damaging Het
Serpina11 T C 12: 103,952,560 (GRCm39) E77G probably benign Het
Slc35f1 G A 10: 52,809,234 (GRCm39) V74I probably benign Het
Slc7a6 A G 8: 106,919,854 (GRCm39) probably null Het
Smco2 A G 6: 146,761,542 (GRCm39) T154A possibly damaging Het
Tcerg1 A G 18: 42,706,422 (GRCm39) Y1033C probably damaging Het
Tmem87a A G 2: 120,227,847 (GRCm39) F100S possibly damaging Het
Tssk4 T C 14: 55,888,518 (GRCm39) F129S probably damaging Het
Wdr43 C T 17: 71,945,336 (GRCm39) T315I probably damaging Het
Other mutations in Nedd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Nedd4 APN 9 72,642,371 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02