Incidental Mutation 'R4475:Nedd4'
ID 330522
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 041732-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4475 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 72578521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 78 (R78*)
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
AA Change: R78*
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: R78*

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
AA Change: R78*
SMART Domains Protein: ENSMUSP00000138852
Gene: ENSMUSG00000032216
AA Change: R78*

DomainStartEndE-ValueType
C2 79 163 1.12e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184180
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
AA Change: R78*
SMART Domains Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216
AA Change: R78*

DomainStartEndE-ValueType
C2 79 181 5.38e-21 SMART
WW 250 282 2.32e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184737
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 97% (38/39)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,407,227 (GRCm39) I52N possibly damaging Het
Adgra3 A T 5: 50,159,240 (GRCm39) Y337N probably damaging Het
Aga T C 8: 53,964,871 (GRCm39) L11P probably damaging Het
Akap6 T C 12: 53,188,426 (GRCm39) F1947L probably benign Het
Atp6v1c1 T C 15: 38,677,817 (GRCm39) I114T probably benign Het
Bltp1 A G 3: 37,094,544 (GRCm39) T904A probably damaging Het
Dbh T A 2: 27,070,984 (GRCm39) probably null Het
Dgkh T C 14: 78,827,318 (GRCm39) D858G possibly damaging Het
Dlx5 T C 6: 6,881,663 (GRCm39) Y75C probably damaging Het
Dnah8 T C 17: 30,875,959 (GRCm39) F529L probably benign Het
Epg5 A C 18: 77,991,723 (GRCm39) D140A probably benign Het
Esr2 C T 12: 76,180,716 (GRCm39) D402N probably benign Het
Hells A G 19: 38,933,973 (GRCm39) T265A probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspa8 T A 9: 40,715,442 (GRCm39) probably benign Het
Ighm A G 12: 113,384,513 (GRCm39) probably benign Het
Nrxn1 G T 17: 91,009,410 (GRCm39) N388K probably damaging Het
Oprk1 T A 1: 5,672,824 (GRCm39) Y320* probably null Het
Or10j2 T C 1: 173,098,480 (GRCm39) V246A probably damaging Het
Or9s27 T C 1: 92,516,301 (GRCm39) V83A probably benign Het
Parn A G 16: 13,482,549 (GRCm39) S100P probably benign Het
Piezo2 A G 18: 63,235,170 (GRCm39) L809P probably damaging Het
Plek C T 11: 16,935,528 (GRCm39) probably null Het
Prg4 T C 1: 150,330,610 (GRCm39) probably benign Het
Rrs1 T C 1: 9,615,810 (GRCm39) L21P probably damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Sim2 T C 16: 93,926,650 (GRCm39) S625P probably benign Het
Smpd5 T C 15: 76,178,926 (GRCm39) L98P probably damaging Het
Srpra A G 9: 35,124,155 (GRCm39) K34E possibly damaging Het
Tbc1d2 A G 4: 46,609,080 (GRCm39) V719A possibly damaging Het
Tmem52b C T 6: 129,491,219 (GRCm39) H37Y probably benign Het
Tnip1 A G 11: 54,830,422 (GRCm39) probably null Het
Trim3 A G 7: 105,267,009 (GRCm39) Y457H probably damaging Het
Usp34 T C 11: 23,407,975 (GRCm39) I2600T possibly damaging Het
Vmn2r129 T G 4: 156,691,085 (GRCm39) noncoding transcript Het
Zfp365 C A 10: 67,724,750 (GRCm39) K379N possibly 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
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'- CACAGCAACAGTGGTAACTTCC -3'
(R):5'- GGATCTCACTGTGTACCAAAATTTG -3'

Sequencing Primer
(F):5'- ATGGTGGCTCACAACCATCTG -3'
(R):5'- ACCAAAATTTGCTACTATCACTCAG -3'
Posted On 2015-07-21