Incidental Mutation 'R3040:Nedd4'
ID 264923
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 040556-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3040 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72577243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 23 (F23L)
Ref Sequence ENSEMBL: ENSMUSP00000138983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034740] [ENSMUST00000183375] [ENSMUST00000184333] [ENSMUST00000184450]
AlphaFold P46935
Predicted Effect probably benign
Transcript: ENSMUST00000034740
AA Change: F23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: F23L

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: ENSMUST00000183375
AA Change: F23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138852
Gene: ENSMUSG00000032216
AA Change: F23L

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 benign
Transcript: ENSMUST00000184450
AA Change: F23L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216
AA Change: F23L

DomainStartEndE-ValueType
C2 79 181 5.38e-21 SMART
WW 250 282 2.32e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184737
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 A C 9: 14,484,069 (GRCm39) V498G probably benign Het
Ampd2 A G 3: 107,983,732 (GRCm39) Y602H probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Ccar1 G T 10: 62,592,273 (GRCm39) H760N possibly damaging Het
Cyp2c50 A G 19: 40,086,570 (GRCm39) N319S probably benign Het
Dcdc2c G C 12: 28,602,181 (GRCm39) A41G probably damaging Het
Dzip3 G A 16: 48,748,687 (GRCm39) S1083F probably damaging Het
Etfdh C T 3: 79,512,226 (GRCm39) R498Q probably damaging Het
Fbn2 A T 18: 58,226,459 (GRCm39) C772S probably damaging Het
Gask1b T A 3: 79,794,432 (GRCm39) I300N possibly damaging Het
Gdap2 T C 3: 100,095,351 (GRCm39) probably null Het
Iqcj T C 3: 67,962,675 (GRCm39) S79P probably damaging Het
Isg20l2 T C 3: 87,839,302 (GRCm39) V171A probably benign Het
Kcna7 GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC GGCTGC 7: 45,056,212 (GRCm39) probably null Het
Luc7l A T 17: 26,496,593 (GRCm39) probably benign Het
Mepe T G 5: 104,485,988 (GRCm39) L376R probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Neurl1a T C 19: 47,228,270 (GRCm39) S22P probably benign Het
Pramel51 A T 12: 88,145,118 (GRCm39) S69R probably benign Het
Psmd2 T C 16: 20,476,317 (GRCm39) V470A probably benign Het
Pyroxd2 G T 19: 42,723,957 (GRCm39) Q323K probably benign Het
Slf2 A G 19: 44,969,008 (GRCm39) D1157G probably damaging Het
Styxl1 C T 5: 135,785,887 (GRCm39) A197T probably damaging Het
Tmem70 C T 1: 16,737,989 (GRCm39) T100M possibly damaging Het
Trip12 A G 1: 84,719,966 (GRCm39) V309A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn1r122 G C 7: 20,867,371 (GRCm39) P228R probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATTACCTACATTTGCACAGACTCAC -3'
(R):5'- ACTTTAACCCCTTGGAGCCAG -3'

Sequencing Primer
(F):5'- ACATCCAACTTTTTATTTGCTGAGC -3'
(R):5'- CCAGCGTGGTTTACATAGCAAGTTC -3'
Posted On 2015-02-05