Incidental Mutation 'IGL00573:Nedd4'
ID |
332671 |
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 # |
IGL00573
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 72593338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034740]
[ENSMUST00000183375]
[ENSMUST00000184333]
[ENSMUST00000184450]
|
AlphaFold |
P46935 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034740
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216
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 |
probably benign
Transcript: ENSMUST00000183375
|
SMART Domains |
Protein: ENSMUSP00000138852 Gene: ENSMUSG00000032216
Domain | Start | End | E-Value | Type |
C2
|
79 |
163 |
1.12e-9 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184333
|
SMART Domains |
Protein: ENSMUSP00000139190 Gene: ENSMUSG00000032216
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,877,704 (GRCm39) |
D687G |
probably benign |
Het |
Cd69 |
C |
A |
6: 129,245,283 (GRCm39) |
V140F |
probably damaging |
Het |
Cep290 |
C |
T |
10: 100,376,223 (GRCm39) |
P1437L |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,086,860 (GRCm39) |
Y1023H |
probably damaging |
Het |
Col6a4 |
T |
A |
9: 105,900,095 (GRCm39) |
Y1676F |
probably benign |
Het |
Ctnna2 |
A |
C |
6: 76,879,264 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
T |
C |
9: 3,450,161 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
A |
T |
15: 85,111,238 (GRCm39) |
M131L |
probably benign |
Het |
Flcn |
A |
G |
11: 59,686,649 (GRCm39) |
V368A |
probably damaging |
Het |
Marveld2 |
A |
T |
13: 100,734,367 (GRCm39) |
|
probably benign |
Het |
Mcm8 |
A |
G |
2: 132,674,732 (GRCm39) |
Y400C |
possibly damaging |
Het |
Mdn1 |
T |
C |
4: 32,666,619 (GRCm39) |
|
probably null |
Het |
Nlrp3 |
C |
T |
11: 59,455,942 (GRCm39) |
H913Y |
possibly damaging |
Het |
Pkd1 |
G |
T |
17: 24,813,504 (GRCm39) |
E4015* |
probably null |
Het |
Plscr1 |
C |
T |
9: 92,146,732 (GRCm39) |
L125F |
probably benign |
Het |
Trim30c |
T |
A |
7: 104,031,838 (GRCm39) |
I326L |
possibly damaging |
Het |
Tsga10 |
T |
C |
1: 37,846,151 (GRCm39) |
D325G |
probably damaging |
Het |
Tubgcp4 |
A |
G |
2: 121,009,182 (GRCm39) |
Y158C |
probably damaging |
Het |
Zbtb40 |
G |
A |
4: 136,745,389 (GRCm39) |
P215S |
probably benign |
Het |
Zfp568 |
A |
T |
7: 29,721,865 (GRCm39) |
H269L |
possibly damaging |
Het |
Zmynd11 |
T |
G |
13: 9,739,262 (GRCm39) |
E510A |
probably damaging |
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 |
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 |
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 |
2015-08-05 |