Incidental Mutation 'R3884:Nedd4'
ID 310593
Institutional Source Beutler Lab
Gene Symbol Nedd4
Ensembl Gene ENSMUSG00000032216
Gene Name neural precursor cell expressed, developmentally down-regulated 4
Synonyms E430025J12Rik, Nedd4a, Nedd4, Nedd4-1
MMRRC Submission 040797-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3884 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72632359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 398 (P398S)
Ref Sequence ENSEMBL: ENSMUSP00000034740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034740] [ENSMUST00000184333] [ENSMUST00000184450]
AlphaFold P46935
PDB Structure Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034740
AA Change: P398S

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: P398S

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: 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 benign
Transcript: ENSMUST00000184450
SMART Domains Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216

DomainStartEndE-ValueType
C2 79 181 5.38e-21 SMART
WW 250 282 2.32e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194508
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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
Adcy6 G A 15: 98,495,055 (GRCm39) S719F probably benign Het
Als2 A G 1: 59,224,727 (GRCm39) V998A probably damaging Het
Ankmy1 T G 1: 92,813,874 (GRCm39) E435A probably damaging Het
Ankrd52 A G 10: 128,224,824 (GRCm39) E820G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp6v0d2 T A 4: 19,910,677 (GRCm39) D71V probably damaging Het
C3 T C 17: 57,524,173 (GRCm39) probably null Het
Cnot7 A T 8: 40,963,171 (GRCm39) M1K probably null Het
Cntn2 A G 1: 132,456,677 (GRCm39) V123A probably damaging Het
Depdc5 G A 5: 33,101,421 (GRCm39) E904K probably damaging Het
Dip2c G T 13: 9,601,894 (GRCm39) L284F probably damaging Het
Epb41l3 C T 17: 69,581,111 (GRCm39) R552* probably null Het
Gabra4 T C 5: 71,814,600 (GRCm39) D40G probably benign Het
Gm9925 T C 18: 74,198,399 (GRCm39) probably benign Het
Igf2r T A 17: 12,928,355 (GRCm39) Q996L probably benign Het
Klk1b16 T C 7: 43,788,887 (GRCm39) V40A possibly damaging Het
Lin9 G T 1: 180,515,630 (GRCm39) G427* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Lyg2 C G 1: 37,949,150 (GRCm39) A71P probably damaging Het
Mycbp2 A C 14: 103,532,686 (GRCm39) L390V probably damaging Het
Myl3 A G 9: 110,597,027 (GRCm39) H129R probably damaging Het
Naa16 T C 14: 79,580,702 (GRCm39) K604R probably damaging Het
Neurl1a T C 19: 47,241,885 (GRCm39) V309A probably benign Het
Or10a2 A T 7: 106,673,110 (GRCm39) Q25L possibly damaging Het
Or6c210 T C 10: 129,496,407 (GRCm39) V244A probably damaging Het
Pacs1 T C 19: 5,205,787 (GRCm39) Y301C probably damaging Het
Parl A T 16: 20,101,762 (GRCm39) M90K probably damaging Het
Plxnc1 A T 10: 94,746,549 (GRCm39) probably null Het
Prkd2 C A 7: 16,587,180 (GRCm39) S375R probably benign Het
Prss44 T C 9: 110,643,764 (GRCm39) I136T possibly damaging Het
Rock1 G A 18: 10,122,768 (GRCm39) T351I probably damaging Het
Selenon T C 4: 134,267,081 (GRCm39) N507S possibly damaging Het
Slc38a7 C T 8: 96,572,809 (GRCm39) G141R probably damaging Het
Trpm4 C T 7: 44,971,422 (GRCm39) probably null Het
Ttn T A 2: 76,560,705 (GRCm39) N27486I probably damaging Het
Xylb T C 9: 119,209,753 (GRCm39) M346T probably damaging Het
Zbtb17 T C 4: 141,191,886 (GRCm39) F306L 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGTCGTGTCTACAACTACATTGG -3'
(R):5'- GACAGTTCTCTTGAGGCTTGAC -3'

Sequencing Primer
(F):5'- AGAGAAGGCATCCCCCGTTTTAG -3'
(R):5'- GACTTCCAAGGTTGTGCCC -3'
Posted On 2015-04-17