Incidental Mutation 'R8229:Nedd4'
ID 640951
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 067645-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8229 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 72638670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 485 (K485N)
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 benign
Transcript: ENSMUST00000034740
AA Change: K485N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: K485N

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 25,201,754 (GRCm39) M203K probably damaging Het
Arhgap23 G A 11: 97,344,732 (GRCm39) V565I probably benign Het
D6Wsu163e G T 6: 126,943,966 (GRCm39) R454L probably benign Het
Def6 A G 17: 28,436,729 (GRCm39) D131G probably damaging Het
Erc1 T C 6: 119,730,249 (GRCm39) T616A probably benign Het
Ermard T A 17: 15,279,596 (GRCm39) probably benign Het
Fsip2 T C 2: 82,808,487 (GRCm39) L1602P possibly damaging Het
Gli1 C T 10: 127,168,317 (GRCm39) R512Q possibly damaging Het
Gm6034 A G 17: 36,367,268 (GRCm39) T38A unknown Het
H2-M10.1 T C 17: 36,634,931 (GRCm39) I325V probably benign Het
Inf2 A G 12: 112,578,030 (GRCm39) D1107G unknown Het
Iws1 A G 18: 32,217,740 (GRCm39) N448S probably benign Het
Klhl24 T C 16: 19,933,321 (GRCm39) Y311H possibly damaging Het
Lama3 C T 18: 12,540,608 (GRCm39) A304V probably benign Het
Limch1 A G 5: 67,186,138 (GRCm39) E646G probably damaging Het
Lrrc8c T A 5: 105,754,402 (GRCm39) V59E probably benign Het
Lrrn4 G A 2: 132,711,807 (GRCm39) T672I probably damaging Het
Magi3 C A 3: 103,923,017 (GRCm39) E1233D possibly damaging Het
Magi3 T C 3: 103,923,018 (GRCm39) E1233G probably benign Het
Mgat5b A T 11: 116,838,213 (GRCm39) K284M probably benign Het
Or4c114 T A 2: 88,905,382 (GRCm39) N18Y possibly damaging Het
Or5b101 A G 19: 13,005,561 (GRCm39) I44T possibly damaging Het
Or5p57 C T 7: 107,665,794 (GRCm39) M70I probably benign Het
Or5w17 A T 2: 87,583,408 (GRCm39) C310S probably benign Het
Otud4 A G 8: 80,400,604 (GRCm39) H1106R unknown Het
Pcdha7 C A 18: 37,107,776 (GRCm39) S267* probably null Het
Pcdhb11 A G 18: 37,555,671 (GRCm39) I334V probably benign Het
Phf11b A T 14: 59,568,730 (GRCm39) L61Q probably damaging Het
Prepl T C 17: 85,388,689 (GRCm39) D138G probably benign Het
Sipa1l1 T C 12: 82,484,622 (GRCm39) V1592A probably damaging Het
Smc6 T A 12: 11,341,673 (GRCm39) S564T probably benign Het
Spty2d1 A G 7: 46,647,522 (GRCm39) V469A probably benign Het
Trim11 G A 11: 58,872,167 (GRCm39) probably benign Het
Ttll7 T A 3: 146,607,204 (GRCm39) I158K probably damaging Het
Ugt3a1 A G 15: 9,367,463 (GRCm39) E402G probably damaging Het
Usp33 T C 3: 152,075,929 (GRCm39) V383A probably benign Het
Ythdc1 A G 5: 86,957,167 (GRCm39) probably benign Het
Ywhab T G 2: 163,856,015 (GRCm39) Y130* probably null Het
Zfp609 T C 9: 65,610,782 (GRCm39) K727R possibly damaging Het
Zscan30 A C 18: 24,104,737 (GRCm39) L37R noncoding transcript 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
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'- GAATGTTTCCTTACAGCCAGGC -3'
(R):5'- ACTTTAGCCTGCCTGGACTG -3'

Sequencing Primer
(F):5'- CAGGCTGGGAAGAAAGAACCC -3'
(R):5'- AGCCCTGACTGCTTCTGG -3'
Posted On 2020-07-28