Incidental Mutation 'IGL01973:Nedd4'
ID 182587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nedd4
Ensembl Gene ENSMUSG00000032216
Gene Name neural precursor cell expressed, developmentally down-regulated 4
Synonyms E430025J12Rik, Nedd4a, Nedd4, Nedd4-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01973
Quality Score
Status
Chromosome 9
Chromosomal Location 72569628-72657134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72644216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 661 (M661K)
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 possibly damaging
Transcript: ENSMUST00000034740
AA Change: M661K

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034740
Gene: ENSMUSG00000032216
AA Change: M661K

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 noncoding transcript
Transcript: ENSMUST00000183451
Predicted Effect probably benign
Transcript: ENSMUST00000184020
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik A G 12: 17,061,172 (GRCm39) W59R probably damaging Het
Adam17 C T 12: 21,399,944 (GRCm39) R154K probably damaging Het
Ajm1 G T 2: 25,469,584 (GRCm39) S109* probably null Het
Atp9b A T 18: 80,801,518 (GRCm39) F791I probably benign Het
Atr T G 9: 95,753,727 (GRCm39) S776R probably damaging Het
AW554918 A T 18: 25,553,056 (GRCm39) T487S probably damaging Het
Bckdhb T A 9: 83,873,789 (GRCm39) F217Y probably benign Het
Cacna1i G A 15: 80,266,234 (GRCm39) A1574T probably damaging Het
Ccdc150 G A 1: 54,339,647 (GRCm39) probably null Het
Clca4c-ps A T 3: 144,585,593 (GRCm39) noncoding transcript Het
Clec4a1 T C 6: 122,907,680 (GRCm39) S123P probably damaging Het
Col6a4 T C 9: 105,940,093 (GRCm39) Y1279C probably damaging Het
Cox8c T A 12: 102,865,626 (GRCm39) M1K probably null Het
Crat G T 2: 30,295,493 (GRCm39) S370Y probably damaging Het
Cts7 A T 13: 61,503,414 (GRCm39) D183E probably benign Het
Cyp1a2 C A 9: 57,589,678 (GRCm39) W45C probably damaging Het
Eml5 T A 12: 98,829,539 (GRCm39) I492L probably benign Het
Fbxl4 T G 4: 22,422,766 (GRCm39) L456R probably damaging Het
Flt1 G T 5: 147,620,699 (GRCm39) H148Q probably benign Het
Galnt3 T C 2: 65,914,606 (GRCm39) M604V probably benign Het
Gatb T C 3: 85,518,731 (GRCm39) V279A probably damaging Het
Heatr1 C A 13: 12,444,680 (GRCm39) H1543Q probably benign Het
Ighg2b C T 12: 113,271,305 (GRCm39) V83I unknown Het
Jcad A G 18: 4,675,514 (GRCm39) Q1092R probably benign Het
Kirrel3 A G 9: 34,927,764 (GRCm39) E6G probably damaging Het
Klhl22 A G 16: 17,610,575 (GRCm39) S609G probably benign Het
Kntc1 A G 5: 123,904,021 (GRCm39) Y346C probably damaging Het
Maneal T C 4: 124,752,948 (GRCm39) D233G probably benign Het
Mcm3ap T C 10: 76,306,951 (GRCm39) S355P probably benign Het
Mtus2 C T 5: 148,240,286 (GRCm39) probably benign Het
Muc4 A G 16: 32,575,383 (GRCm39) T1380A probably benign Het
Nomo1 T C 7: 45,732,651 (GRCm39) probably benign Het
Ntmt2 A G 1: 163,544,689 (GRCm39) I98T probably benign Het
Ntsr2 T A 12: 16,706,775 (GRCm39) W268R probably benign Het
Nup188 A C 2: 30,229,862 (GRCm39) Q1360P possibly damaging Het
Or2c1 A T 16: 3,657,641 (GRCm39) Q268L probably damaging Het
Or6k6 A G 1: 173,945,099 (GRCm39) F161S probably damaging Het
Pabpc1 A T 15: 36,599,519 (GRCm39) V392E probably benign Het
Pcdhb11 C A 18: 37,556,565 (GRCm39) R632S probably damaging Het
Phf11 A G 14: 59,488,578 (GRCm39) V73A probably benign Het
Pnpla6 T A 8: 3,567,619 (GRCm39) M87K probably damaging Het
Prkd1 C T 12: 50,413,162 (GRCm39) G670R probably damaging Het
Raf1 G A 6: 115,653,530 (GRCm39) probably benign Het
Rapgef2 T A 3: 78,999,116 (GRCm39) probably null Het
Rnf215 A T 11: 4,086,615 (GRCm39) H164L probably damaging Het
Slc24a3 T C 2: 145,086,947 (GRCm39) V19A probably benign Het
Tbc1d16 A T 11: 119,047,533 (GRCm39) V396E probably benign Het
Tecpr1 T C 5: 144,134,806 (GRCm39) probably benign Het
Thap12 T A 7: 98,365,706 (GRCm39) Y625N possibly damaging Het
Tshz2 A T 2: 169,726,603 (GRCm39) M400L probably damaging Het
Ttc28 A G 5: 111,372,101 (GRCm39) Y850C possibly damaging Het
Ugt1a7c A G 1: 88,022,856 (GRCm39) D5G probably benign Het
Vmn2r10 C T 5: 109,143,543 (GRCm39) M802I probably damaging Het
Washc4 T C 10: 83,391,973 (GRCm39) Y220H probably damaging Het
Zfhx3 T A 8: 109,673,825 (GRCm39) M1625K probably damaging Het
Zfp677 T A 17: 21,617,169 (GRCm39) N75K probably damaging Het
Zzz3 T C 3: 152,134,007 (GRCm39) V355A 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
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
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
Posted On 2014-05-07