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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |