Incidental Mutation 'IGL00573:Nedd4'
ID332671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nedd4
Ensembl Gene ENSMUSG00000032216
Gene Nameneural precursor cell expressed, developmentally down-regulated 4
SynonymsNedd4, Nedd4-1, Nedd4a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00573
Quality Score
Status
Chromosome9
Chromosomal Location72662346-72749852 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 72686056 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034740] [ENSMUST00000183375] [ENSMUST00000184333] [ENSMUST00000184450]
Predicted Effect probably null
Transcript: ENSMUST00000034740
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216

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
SMART Domains Protein: ENSMUSP00000138852
Gene: ENSMUSG00000032216

DomainStartEndE-ValueType
C2 79 163 1.12e-9 SMART
Predicted Effect probably null
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
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: ENSMUST00000195338
Coding Region Coverage
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,827,704 D687G probably benign Het
Cd69 C A 6: 129,268,320 V140F probably damaging Het
Cep290 C T 10: 100,540,361 P1437L probably damaging Het
Chd4 T C 6: 125,109,897 Y1023H probably damaging Het
Col6a4 T A 9: 106,022,896 Y1676F probably benign Het
Ctnna2 A C 6: 76,902,281 probably benign Het
Cwf19l2 T C 9: 3,450,161 probably benign Het
Fbln1 A T 15: 85,227,037 M131L probably benign Het
Flcn A G 11: 59,795,823 V368A probably damaging Het
Marveld2 A T 13: 100,597,859 probably benign Het
Mcm8 A G 2: 132,832,812 Y400C possibly damaging Het
Mdn1 T C 4: 32,666,619 probably null Het
Nlrp3 C T 11: 59,565,116 H913Y possibly damaging Het
Pkd1 G T 17: 24,594,530 E4015* probably null Het
Plscr1 C T 9: 92,264,679 L125F probably benign Het
Trim30c T A 7: 104,382,631 I326L possibly damaging Het
Tsga10 T C 1: 37,807,070 D325G probably damaging Het
Tubgcp4 A G 2: 121,178,701 Y158C probably damaging Het
Zbtb40 G A 4: 137,018,078 P215S probably benign Het
Zfp568 A T 7: 30,022,440 H269L possibly damaging Het
Zmynd11 T G 13: 9,689,226 E510A probably damaging Het
Other mutations in Nedd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Nedd4 APN 9 72735089 missense probably damaging 1.00
IGL01973:Nedd4 APN 9 72736934 missense possibly damaging 0.81
IGL02177:Nedd4 APN 9 72747157 missense probably damaging 1.00
IGL03082:Nedd4 APN 9 72677394 critical splice donor site probably null
Evaporation UTSW 9 72686095 missense probably damaging 1.00
reduction UTSW 9 72731271 missense possibly damaging 0.49
R0194:Nedd4 UTSW 9 72670053 missense possibly damaging 0.72
R0714:Nedd4 UTSW 9 72731446 splice site probably benign
R1331:Nedd4 UTSW 9 72677386 missense probably damaging 1.00
R1633:Nedd4 UTSW 9 72671257 missense possibly damaging 0.50
R1764:Nedd4 UTSW 9 72730907 missense probably damaging 0.99
R2192:Nedd4 UTSW 9 72742718 missense probably damaging 0.99
R2196:Nedd4 UTSW 9 72725074 missense possibly damaging 0.77
R2220:Nedd4 UTSW 9 72736707 missense probably damaging 1.00
R2850:Nedd4 UTSW 9 72725074 missense possibly damaging 0.77
R2994:Nedd4 UTSW 9 72730903 missense probably benign 0.04
R3040:Nedd4 UTSW 9 72669961 missense probably benign
R3697:Nedd4 UTSW 9 72740187 missense probably damaging 1.00
R3884:Nedd4 UTSW 9 72725077 missense probably benign 0.16
R4475:Nedd4 UTSW 9 72671239 nonsense probably null
R4476:Nedd4 UTSW 9 72671239 nonsense probably null
R4883:Nedd4 UTSW 9 72740233 splice site probably null
R5066:Nedd4 UTSW 9 72710519 missense probably damaging 1.00
R5947:Nedd4 UTSW 9 72730850 intron probably benign
R5974:Nedd4 UTSW 9 72743638 critical splice donor site probably null
R6247:Nedd4 UTSW 9 72726438 missense probably damaging 1.00
R6651:Nedd4 UTSW 9 72731271 missense possibly damaging 0.49
R6661:Nedd4 UTSW 9 72686095 missense probably damaging 1.00
R7170:Nedd4 UTSW 9 72670099 missense probably benign 0.00
R7237:Nedd4 UTSW 9 72725064 missense probably benign 0.04
R7653:Nedd4 UTSW 9 72743628 missense probably damaging 1.00
R7772:Nedd4 UTSW 9 72677326 missense possibly damaging 0.77
R7905:Nedd4 UTSW 9 72677379 nonsense probably null
R8194:Nedd4 UTSW 9 72686107 missense probably damaging 1.00
R8229:Nedd4 UTSW 9 72731388 missense probably benign 0.00
Z1088:Nedd4 UTSW 9 72670078 missense probably benign 0.22
Posted On2015-08-05