Incidental Mutation 'R8733:Nedd4'
ID 662865
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 068581-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8733 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72633766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 424 (V424A)
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 possibly damaging
Transcript: ENSMUST00000034740
AA Change: V424A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: V424A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,249,627 (GRCm39) L1106P probably damaging Het
Alx3 C G 3: 107,512,135 (GRCm39) P258A probably damaging Het
Bbs9 A G 9: 22,582,128 (GRCm39) T607A probably benign Het
Catsperg1 A T 7: 28,891,111 (GRCm39) V644E possibly damaging Het
Cep85 T C 4: 133,875,472 (GRCm39) K499E possibly damaging Het
Chd5 A T 4: 152,463,923 (GRCm39) H1464L probably damaging Het
Chrne A G 11: 70,507,856 (GRCm39) L281P probably damaging Het
Col3a1 A G 1: 45,379,472 (GRCm39) probably benign Het
Cpsf4l A G 11: 113,600,279 (GRCm39) F13L possibly damaging Het
Dgcr8 T C 16: 18,077,825 (GRCm39) I603V probably benign Het
Dhx16 A G 17: 36,192,267 (GRCm39) D102G probably benign Het
Dnm1 G T 2: 32,206,987 (GRCm39) D564E probably benign Het
Dync1li1 T A 9: 114,534,178 (GRCm39) Y93N probably damaging Het
Esp31 A G 17: 38,955,509 (GRCm39) I51V probably benign Het
Grap G T 11: 61,562,517 (GRCm39) A163S possibly damaging Het
Hgs G A 11: 120,360,954 (GRCm39) probably null Het
Icosl A T 10: 77,909,697 (GRCm39) N214I probably damaging Het
Ints6 G A 14: 62,934,297 (GRCm39) P737S probably benign Het
Irag1 C T 7: 110,477,425 (GRCm39) V564M probably benign Het
Lima1 A G 15: 99,678,699 (GRCm39) S581P probably damaging Het
Lrfn2 G A 17: 49,403,824 (GRCm39) R649H probably damaging Het
Muc5b A G 7: 141,417,532 (GRCm39) T3493A possibly damaging Het
Mup4 A T 4: 59,958,587 (GRCm39) N104K probably damaging Het
Or10ag55-ps1 A T 2: 87,115,116 (GRCm39) I161F probably benign Het
Or6c88 T A 10: 129,406,579 (GRCm39) D18E possibly damaging Het
Or8d23 A G 9: 38,841,985 (GRCm39) I173V probably benign Het
Otop1 G A 5: 38,457,117 (GRCm39) R292H probably damaging Het
Otop1 T A 5: 38,457,796 (GRCm39) C518* probably null Het
Parp3 C T 9: 106,353,150 (GRCm39) V9M probably benign Het
Pcdhb20 C T 18: 37,638,437 (GRCm39) A321V probably damaging Het
Pik3c2g C T 6: 139,714,426 (GRCm39) Q311* probably null Het
Pkd1l1 A T 11: 8,883,657 (GRCm39) V855D Het
Polr2k T A 15: 36,176,913 (GRCm39) D97E probably benign Het
Psmd11 A G 11: 80,325,342 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,266,683 (GRCm39) T631M probably damaging Het
Ralgps1 C A 2: 33,174,836 (GRCm39) probably null Het
Rbm18 A G 2: 36,024,211 (GRCm39) S17P probably damaging Het
Rcc1 C A 4: 132,065,515 (GRCm39) L49F probably benign Het
Rgma T C 7: 73,059,036 (GRCm39) S63P possibly damaging Het
Scn1a T A 2: 66,154,944 (GRCm39) I672L probably benign Het
Sema4c T C 1: 36,591,954 (GRCm39) T270A probably damaging Het
Serac1 A G 17: 6,100,303 (GRCm39) L479P probably damaging Het
Slc22a16 A G 10: 40,450,061 (GRCm39) M187V probably benign Het
Slc41a3 A T 6: 90,610,710 (GRCm39) T191S possibly damaging Het
Slu7 G A 11: 43,334,167 (GRCm39) V398M probably damaging Het
Sphk1 A G 11: 116,426,451 (GRCm39) T136A probably benign Het
Sqstm1 G T 11: 50,101,493 (GRCm39) P31Q possibly damaging Het
Trappc11 A T 8: 47,954,883 (GRCm39) V885D probably damaging Het
Trav6-1 T A 14: 52,876,213 (GRCm39) Y44* probably null Het
Trav9-2 T A 14: 53,828,755 (GRCm39) C42S probably damaging Het
Zc2hc1a A G 3: 7,593,168 (GRCm39) T194A probably benign Het
Zfp729a A G 13: 67,769,104 (GRCm39) V375A 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
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
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'- TGTTTCAGAGCACCAGCAG -3'
(R):5'- CGTGTACATACCCACTTGTACATACAC -3'

Sequencing Primer
(F):5'- ACCAGCAGTGAAGAAAGGC -3'
(R):5'- CATACATGTGCGCACGC -3'
Posted On 2021-03-08