Incidental Mutation 'R1331:Nedd4'
ID 156199
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 039396-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1331 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72584668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 123 (I123N)
Ref Sequence ENSEMBL: ENSMUSP00000138983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034740] [ENSMUST00000183375] [ENSMUST00000184333] [ENSMUST00000184450]
AlphaFold P46935
Predicted Effect probably damaging
Transcript: ENSMUST00000034740
AA Change: I123N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: I123N

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: I123N

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138852
Gene: ENSMUSG00000032216
AA Change: I123N

DomainStartEndE-ValueType
C2 79 163 1.12e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184333
AA Change: I13N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139190
Gene: ENSMUSG00000032216
AA Change: I13N

DomainStartEndE-ValueType
C2 4 71 3.38e-4 SMART
WW 140 172 2.32e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184450
AA Change: I123N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138983
Gene: ENSMUSG00000032216
AA Change: I123N

DomainStartEndE-ValueType
C2 79 181 5.38e-21 SMART
WW 250 282 2.32e-13 SMART
Meta Mutation Damage Score 0.3026 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 93.0%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,773,202 (GRCm39) probably null Het
Acat1 T C 9: 53,496,183 (GRCm39) D318G probably benign Het
Ahdc1 T C 4: 132,791,002 (GRCm39) F748L probably benign Het
Alkbh8 T A 9: 3,347,916 (GRCm39) probably null Het
Arhgef26 A G 3: 62,247,449 (GRCm39) T178A probably benign Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Ccdc180 T C 4: 45,909,359 (GRCm39) V509A possibly damaging Het
Ccdc39 T C 3: 33,869,634 (GRCm39) E731G probably benign Het
Cenpf A G 1: 189,374,998 (GRCm39) V2931A probably damaging Het
Cobl A T 11: 12,325,853 (GRCm39) N207K probably damaging Het
Col14a1 T A 15: 55,273,584 (GRCm39) W718R unknown Het
Dnah7a A G 1: 53,507,828 (GRCm39) I3081T probably damaging Het
Dync1h1 T C 12: 110,615,698 (GRCm39) V2977A probably damaging Het
Ephb4 A G 5: 137,364,796 (GRCm39) probably benign Het
Eri3 T C 4: 117,422,104 (GRCm39) probably benign Het
Fbxo24 A G 5: 137,617,891 (GRCm39) V291A probably damaging Het
Glra1 A C 11: 55,405,896 (GRCm39) S282A probably benign Het
Gm7589 C A 9: 59,053,325 (GRCm39) noncoding transcript Het
H6pd T C 4: 150,066,872 (GRCm39) N505D probably benign Het
Hdlbp T A 1: 93,348,853 (GRCm39) N566Y probably damaging Het
Hsp90aa1 C A 12: 110,659,254 (GRCm39) K514N probably damaging Het
Impdh1 A T 6: 29,206,477 (GRCm39) V120D probably damaging Het
Katnip A G 7: 125,465,627 (GRCm39) T1360A probably benign Het
Loxhd1 C T 18: 77,490,632 (GRCm39) P1411S possibly damaging Het
Lpl A G 8: 69,349,281 (GRCm39) E269G probably damaging Het
Map1a G T 2: 121,136,701 (GRCm39) E2268* probably null Het
Mark1 T C 1: 184,660,245 (GRCm39) E137G probably damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Mogat2 T C 7: 98,872,722 (GRCm39) Y154C possibly damaging Het
Myo18a C G 11: 77,732,405 (GRCm39) I859M probably benign Het
Myo7a A G 7: 97,756,215 (GRCm39) V39A probably benign Het
Obscn A G 11: 58,977,754 (GRCm39) V1966A probably benign Het
Or7g33 T C 9: 19,448,842 (GRCm39) N128S probably benign Het
Orc3 T G 4: 34,599,748 (GRCm39) N77T probably benign Het
Penk A G 4: 4,134,287 (GRCm39) M120T probably benign Het
Phf7 G A 14: 30,962,362 (GRCm39) Q148* probably null Het
Pkhd1l1 G A 15: 44,368,943 (GRCm39) V863I probably damaging Het
Pkhd1l1 C T 15: 44,452,993 (GRCm39) R3973C probably damaging Het
Polq C T 16: 36,862,109 (GRCm39) T264M probably damaging Het
Ptprb A T 10: 116,203,437 (GRCm39) T2070S probably damaging Het
Ralgapb T C 2: 158,272,453 (GRCm39) F169S probably damaging Het
Rapgef5 G T 12: 117,685,084 (GRCm39) A278S probably benign Het
Ripor2 G T 13: 24,861,824 (GRCm39) E203* probably null Het
Setx T C 2: 29,069,698 (GRCm39) L2501P probably benign Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slc35b1 T A 11: 95,276,689 (GRCm39) V56D probably damaging Het
Slc45a4 C T 15: 73,458,596 (GRCm39) D326N probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Stat4 T A 1: 52,053,086 (GRCm39) V89D probably benign Het
Tek T A 4: 94,627,943 (GRCm39) probably benign Het
Tert T A 13: 73,796,473 (GRCm39) F1068Y probably damaging Het
Trim33 T A 3: 103,217,670 (GRCm39) I205K probably damaging Het
Vmn1r212 A T 13: 23,067,562 (GRCm39) I257K 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
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
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
Posted On 2014-02-11