Incidental Mutation 'R3884:Nedd4'
ID |
310593 |
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 |
040797-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3884 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
72569628-72657134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72632359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 398
(P398S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034740
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034740]
[ENSMUST00000184333]
[ENSMUST00000184450]
|
AlphaFold |
P46935 |
PDB Structure |
Crystal structure of the Nedd4 C2/Grb10 SH2 complex [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034740
AA Change: P398S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000034740 Gene: ENSMUSG00000032216 AA Change: P398S
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: 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 benign
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: ENSMUST00000194508
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
G |
A |
15: 98,495,055 (GRCm39) |
S719F |
probably benign |
Het |
Als2 |
A |
G |
1: 59,224,727 (GRCm39) |
V998A |
probably damaging |
Het |
Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,224,824 (GRCm39) |
E820G |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp6v0d2 |
T |
A |
4: 19,910,677 (GRCm39) |
D71V |
probably damaging |
Het |
C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
Cnot7 |
A |
T |
8: 40,963,171 (GRCm39) |
M1K |
probably null |
Het |
Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
Depdc5 |
G |
A |
5: 33,101,421 (GRCm39) |
E904K |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,601,894 (GRCm39) |
L284F |
probably damaging |
Het |
Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
Gabra4 |
T |
C |
5: 71,814,600 (GRCm39) |
D40G |
probably benign |
Het |
Gm9925 |
T |
C |
18: 74,198,399 (GRCm39) |
|
probably benign |
Het |
Igf2r |
T |
A |
17: 12,928,355 (GRCm39) |
Q996L |
probably benign |
Het |
Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
Lin9 |
G |
T |
1: 180,515,630 (GRCm39) |
G427* |
probably null |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Lyg2 |
C |
G |
1: 37,949,150 (GRCm39) |
A71P |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
Myl3 |
A |
G |
9: 110,597,027 (GRCm39) |
H129R |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,580,702 (GRCm39) |
K604R |
probably damaging |
Het |
Neurl1a |
T |
C |
19: 47,241,885 (GRCm39) |
V309A |
probably benign |
Het |
Or10a2 |
A |
T |
7: 106,673,110 (GRCm39) |
Q25L |
possibly damaging |
Het |
Or6c210 |
T |
C |
10: 129,496,407 (GRCm39) |
V244A |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,205,787 (GRCm39) |
Y301C |
probably damaging |
Het |
Parl |
A |
T |
16: 20,101,762 (GRCm39) |
M90K |
probably damaging |
Het |
Plxnc1 |
A |
T |
10: 94,746,549 (GRCm39) |
|
probably null |
Het |
Prkd2 |
C |
A |
7: 16,587,180 (GRCm39) |
S375R |
probably benign |
Het |
Prss44 |
T |
C |
9: 110,643,764 (GRCm39) |
I136T |
possibly damaging |
Het |
Rock1 |
G |
A |
18: 10,122,768 (GRCm39) |
T351I |
probably damaging |
Het |
Selenon |
T |
C |
4: 134,267,081 (GRCm39) |
N507S |
possibly damaging |
Het |
Slc38a7 |
C |
T |
8: 96,572,809 (GRCm39) |
G141R |
probably damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,560,705 (GRCm39) |
N27486I |
probably damaging |
Het |
Xylb |
T |
C |
9: 119,209,753 (GRCm39) |
M346T |
probably damaging |
Het |
Zbtb17 |
T |
C |
4: 141,191,886 (GRCm39) |
F306L |
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 |
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 |
|
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 |
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 |
PCR Primer
(F):5'- CAGTCGTGTCTACAACTACATTGG -3'
(R):5'- GACAGTTCTCTTGAGGCTTGAC -3'
Sequencing Primer
(F):5'- AGAGAAGGCATCCCCCGTTTTAG -3'
(R):5'- GACTTCCAAGGTTGTGCCC -3'
|
Posted On |
2015-04-17 |